Final Exam Epocrates Case Studies

Vestibular Schwannoma

A 40-year-old woman presents with a history of progressively decreased hearing in her left ear over the past few years. She noticed the hearing deficit when trying to use the phone with the left ear. She has recently complained of intermittent dizziness, tinnitus in the left ear, and vague left-sided headaches. A 45-year-old man has a routine hearing test for work and a sensorineural hearing loss is detected. He has no signs or symptoms.

Bacterial Meningitis

A 1-month-old girl presents to her primary care physician with a high fever, feeding difficulties, and irritability for the past 24 hours. Examination reveals altered mental status and a bulging fontanel. An 18-year-old male student presents with severe headache and fever that he has had for 3 days. Examination reveals fever, photophobia, and neck stiffness. Other Presentations Atypical clinical manifestations tend to occur in very young, older, or immunocompromised patients.[1] In infants the signs and symptoms can be nonspecific and may include fever, hypothermia, hypotonia, hypertonia, irritability, lethargy, poor feeding, seizures, apnea, bulging fontanel, and respiratory distress.[2] [3] [4] In older adults, often the only presenting sign is confusion or an altered mental status.

Disseminated Intravascular Coagulation (DIC)

A 1-year-old boy presents with sudden-onset fever and vomiting. Findings include irritability, tachycardia, pallor, cold extremities, diffuse skin rash with abdominal petechiae, and signs of meningeal irritation. Blood tests show leukocytosis, markedly decreased platelet count, increased prothrombin time (PT)/partial thromboplastin time (PTT), decreased fibrinogen, elevated fibrin degradation products, elevated blood urea nitrogen, and metabolic acidosis. Gram-negative cocci were found in cerebrospinal fluid and meningococci confirmed. Protein C activity is reduced. A 45-year-old man with acute onset of pancreatitis presents with episodes of epistaxis, increased PT/PTT, and decreased platelet count. Further coagulation workup reveals increased thrombin time, decreased fibrinogen level, positive D-dimers, and increased fibrin degradation products. The blood culture is negative.

Hereditary spherocytosis

A 10 year old boy presents to the ER with fatigue, feeling very ill, and looking very pale. On examination, he has an enlarged spleen. Initial blood tests show a severe anemia with spherocytes on the peripheral blood smear, and a slightly reduced platelet count. His identical twin brother is examined and found to have splenomegaly with typical features of HS on the blood count. Over the next 2 weeks the presenting child recovers, and serology is positive for parvovirus. When well he is asymptomatic and has a hemoglobin of 10 to 11 g/dL A 45-year-old man without symptoms has a routine complete blood count done prior to donating blood for the first time. He is informed that the hemoglobin concentration is slightly reduced, with an increase in mean corpuscular hemoglobin concentration. Spherocytes are seen on the smear, and the serum bilirubin (mainly unconjugated) is slightly elevated. On exam, he is noted to have an enlarged spleen, which is just palpable.

Osteosarcoma

A 14-year-old boy presents with complaints of right knee pain of approximately 2 months' duration. He remembers falling during soccer training 2 months ago, but the trauma was not severe enough to seek medical attention. Shortly afterward, he started having pain at night or after soccer practice. The pain would initially subside with rest and over-the-counter medication. However, for the past 2 weeks the pain has increased in intensity, causing him to limp. His mother has noticed his right thigh is slightly larger than the left. It is also warm and tender to touch.

infectious mononucleosis

A 16-year-old student presents with fever, sore throat, and fatigue. She started feeling sick 1 week ago. Her symptoms are gradually getting worse, and she has difficulty swallowing. She has had a fever every day, and she could hardly get out of bed this morning. She does not remember being exposed to anybody with a similar illness recently. On physical exam she is febrile and looks sick. Enlarged cervical lymph nodes, exudative pharyngitis with soft palate petechiae and faint erythematous macular rash on the trunk and arms are found

viral meningitis

A 19-year-old man presents with a 2-day history of headache and associated nausea. He says that bright light hurts his eyes. He has no significant past medical history, is not currently taking any medication, and reports no drug allergies. He works as a librarian and has not traveled overseas for the past year. He lives with his girlfriend whom he has been seeing for 2 years. They have a pet hamster. Parents bring their 2-year-old child who has been ill for 1 day with irritability, vomiting, and fever. The child has a widespread maculopapular rash. Other Presentations Headache and fever are typically prominent.[1] Patients may also complain of photophobia, neck stiffness, and nausea.[2] There may be an associated rash. In young children, presentation may be nonspecific [3] Children may also present with seizures and this does not necessarily indicate the presence of encephalitis.

Sepsis in infant

A 2-week-old preterm male neonate develops transient apneas and bradycardic episodes while in the neonatal intensive care unit. He had been born at 30 weeks' gestation after spontaneous onset of preterm labor. He had required intubation and mechanical ventilation for 48 hours following birth for neonatal respiratory distress syndrome. Standard dosing of surfactant was administered during this time. He required respiratory support with continuous positive airway pressure for 1 week after his extubation, and was cycling on and off high-flow oxygen therapy at the time of this event. He had established full enteral feeding after a period of parenteral feeding via a percutaneous central venous catheter (long-line). The long-line was still in situ at the time of this event, and was planned for removal that day. In addition to the apneas and bradycardias, it was noted that he had temperature instability and increased capillary refill time (>3 seconds); both of these features were a change from the previous observation trends.

Vitamin D deficiency

A 20-month-old black girl presents with failure to thrive and delayed achievement of motor milestones. She seems irritable on examination and is noted to have bowed legs, thick wrists, and dental caries. Her weight and height are below the third percentile for her age. Her diet consists predominantly of breast milk. A 76-year-old white woman presents with fatigue and severe, unrelenting, aching bone discomfort. She has so far enjoyed good health. However, she currently resides in a home for older people and has minimal exposure to sunlight. On physical exam, minimum pressure applied with index finger on sternum, radius, and anterior tibia produces wincing bone pain. In addition, she has difficulty getting up from a sitting position, suggesting proximal muscle weakness.

diabetic ketoacidosis

A 20-year-old man is brought to the emergency department with abdominal pain, nausea, and vomiting with increasing polyuria, polydipsia, and drowsiness since the day before. He was diagnosed with type 1 diabetes 2 years previously. He mentions that he ran out of insulin 2 days ago. Vital signs at admission are: BP 106/67 mmHg, heart rate 123 beats per minute, respiratory rate 32 breaths per minute, temperature 98.8°F (37.1°C). On mental status examination, he is drowsy. Physical examination reveals Kussmaul breathing (deep and rapid respiration due to ketoacidosis) with acetone odor and mild generalized abdominal tenderness without guarding and rebound tenderness. Initial laboratory data are: blood glucose 450 mg/dL, arterial pH 7.24, pCO₂ 25 mmHg, bicarbonate 12 mEq/L, WBC count 18,500/microliter, sodium 128 mEq/L, potassium 5.2 mEq/L, chloride 97 mEq/L, BUN 32 mg/dL, creatinine 1.7 mg/dL, serum ketones strongly positive

Ankylosing spondylitis

A 20-year-old man presents to his primary care physician with low back pain and stiffness that has persisted for more than 3 months. There is no history of obvious injury but he is an avid sportsman. His back symptoms are worse when he awakes in the morning, and the stiffness lasts more than 1 hour. His back symptoms improve with exercise. He has a desk job and finds that sitting for long periods of time exacerbates his symptoms. He has to get up regularly and move around. His back symptoms also wake him in the second half of the night, after which he can find it difficult to get comfortable. He normally takes an anti-inflammatory drug during the day, and finds his stiffness is worse when he misses a dose. He has had 2 bouts of iritis in the past. A 17-year-old boy presents with an 18-month history of pain in his right ankle and both heels, with early morning stiffness and fatigue. Walking short distances is proving difficult due to heel pain, and he has given up sport. Examination reveals marked tenderness and swelling over bilateral Achilles tendons.

Pneumothorax

A 20-year-old man presents to the emergency department with complaints of left-sided chest pain and shortness of breath. He states that these symptoms began suddenly 4 days ago while he was working at his computer. He initially thought that he may have strained a chest wall muscle but, because the pain and dyspnea had not resolved, he decided to seek medical attention. He has no significant past medical history but has smoked cigarettes since the age of 16 years. His older brother suffered a pneumothorax at the age of 23 years. The patient's vital signs are normal. He appears in mild discomfort. Examination of his chest reveals that the left hemithorax is mildly hyperexpanded with decreased chest excursion. His left hemithorax is hyper-resonant on percussion, and breath sounds are diminished when compared with the right hemithorax. His cardiovascular exam is normal. A 65-year-old patient with COPD presents to the emergency department with complaints of worsening shortness of breath and right-sided chest discomfort. He states that these symptoms occurred suddenly 1 hour prior to presentation. He denies fevers and chills. He also denies increased sputum production and a change in the color or character of his sputum. He continues to smoke cigarettes against medical advice. The patient's blood pressure is 136/92 mmHg, heart rate is 110 beats per minute, and respiratory rate is 24 breaths per minute. Chest excursion is decreased on the right more than the left. His right hemithorax is more hyperinflated than the left. His right hemithorax is hyper-resonant on percussion. Breath sounds are distant bilaterally but more diminished on the right.

Guillian-Barre syndrome

A 20-year-old woman with no significant past medical history presents with lower back pain and bilateral foot and hand tingling. Her symptoms rapidly progress over 4 days. She develops lower extremity weakness, to the point that she is unable to mobilize her legs. She reports coryzal symptoms 2 weeks ago. On examination, she has 0/5 power in her lower extremity with areflexia, but despite the paresthesias she does not have sensory deficits.

Thalassemia Alpha

A 21-year-old Vietnamese woman presents to her primary care physician to establish care. She emigrated from Vietnam 12 years ago and has not had regular medical care in either country. She reports having chronic fatigue that interferes with her ability to complete her college studies. She has an unremarkable past medical history and has never been pregnant. She is currently sexually active. She has no siblings and her parents have no remarkable medical issues. On physical exam her liver span is 10 cm and her spleen is palpated 5 cm below the left costal margin. No lymph nodes are palpable. A 26-year-old black woman presents in her thirteenth week of pregnancy with fatigue. She is found to be mildly anemic with a hemoglobin of 11 g/dL and an MCV of 75 fL. She is empirically started on iron sulfate tablets and develops significant constipation. Four weeks later she has had no improvement in her hemoglobin and she is referred to hematology. She has never been pregnant previously. There is no known history of anemia in her family. Her physical exam is unremarkable

Hypertrophic cardiomyopathy

A 21-year-old active college student with no past medical history has sudden loss of consciousness, 1 hour into a game of basketball. CPR is administered by bystanders. On the arrival of an emergency medical professional, he regained consciousness. The family history is significant for a murmur in his father and paternal grandmother. Physical examination reveals a systolic ejection murmur that increases in intensity when going from a supine to a standing position and disappears with squatting. A 60-year-old woman has progressive dyspnea on exertion over the last 2 months. She is otherwise well with no risk factors for ischemic heart disease. Family history is significant for a cousin who died suddenly in his youth, and is otherwise unremarkable. Physical examination reveals a prominent jugular a-wave and a double apical impulse. There are no murmurs audible. An S4 is present. The remainder of the examination is normal.

G6PD deficiency

A 23-year-old man of Iranian origin consults his primary care provider about a skin rash. He has an intensely pruritic rash over his buttocks and back that has appeared spontaneously. He is referred to a dermatologist, who diagnoses dermatitis herpetiformis and prescribes dapsone. Two days later he develops severe nausea and exhaustion, and complains of passing dark urine. His wife notices he has become jaundiced. He attends the ER, where investigations reveal anemia (Hb 7.5 g/dL) and abnormal biochemistry (elevated BUN, deranged liver function, and unconjugated hyperbilirubinemia). An urgent hematology consult is obtained and a diagnosis of drug-induced hemolytic anemia made. An 18-year-old Greek man presents to the ER with severe nausea, vomiting, and diarrhea. His mother explains that he had been at a lunch party with friends and none of the other guests were ill. The patient had ingested a meal of rice, meat, and freshly cooked beans. He has not had any significant illnesses in the past. Examination reveals a markedly dehydrated young man who is clinically anemic and jaundiced. Investigations show a hemoglobin of 5.1 g/dL, elevated WBC count with a predominant neutrophilia, elevated BUN and creatinine, and deranged liver function. No urine can be obtained. Intravenous fluids are commenced, followed by a transfusion of packed red cells; the patient becomes acutely dyspneic, however, and chest x-ray shows features of pulmonary edema. A nephrologist is consulted. Intravenous diuretic therapy is prescribed, a urinary catheter inserted, and 30 mL of urine obtained that, on testing, shows a high urobilinogen and protein content.

Ectopic pregnancy

A 23-year-old nulligravida presents with a 2-day history of sharp intermittent right lower quadrant abdominal pain, nonradiating, without any alleviating factors, exacerbated with movement, progressively worsening, and not associated with any gastrointestinal symptoms. Her last menstrual period was 7 weeks ago. She denies medical problems. Her gynecologic history is significant for a prior chlamydia infection as a teenager, but is otherwise negative. A 33-year-old gravida 3 para 2 presents with a 4-day history of vaginal bleeding along with lower abdominal discomfort and nausea. She states that her symptoms have worsened over the previous 24 hours. Her last menstrual period was 6 weeks ago. She denies medical, gynecologic, or social problems and her review of systems is negative except for the above complaints. Her obstetric history includes an abortion and two uncomplicated vaginal deliveries followed by an interval tubal ligation 1 year ago

Rickets/Osteomalacia

A 24-month-old girl has failure to thrive and an unusual gait. She has bowed legs, thick wrists, and dental caries. Her weight (17.5 lb [8 kg]) and height (28.5 in [72.5 cm]) are below the 3rd percentiles for her age. Her diet consists predominantly of breast-feeding 5 times daily. The patient was born and resides in the northeastern US with her parents after an unremarkable prenatal, delivery, and postnatal course. Laboratory studies reveal elevated total alkaline phosphatase and elevated intact parathyroid hormone level. The 25-hydroxyvitamin D level is decreased. Plain radiographs of the patient's knees and wrists demonstrate osseous changes including metaphyseal cupping and flaring, epiphyseal irregularities, and widening of the physeal plates. A 13-year-old girl presents to the emergency department with 4-day history of knee pain. She cannot recall any injury to account for her symptoms. She has localized tenderness of the distal femur with no swelling, warmth, or erythema. The knee joint itself is unremarkable, with no effusion and full range of movement. Plain radiographs of the knee show generalized reduced bone density with cortical thinning, coarse trabecular pattern, and a Looser zone (pseudofracture). Blood testing shows hypocalcemia, low levels of vitamin D, elevated levels of parathyroid hormone, and high levels of alkaline phosphatase. Liver and renal chemistries are otherwise unremarkable.

Von Willebrand Disease

A 24-year-old woman presents to the emergency department 8 weeks postpartum with heavy vaginal bleeding, fatigue, and lightheadedness. This was her first pregnancy. She has a history of menorrhagia since menarche and iron-deficiency anemia. She had no bleeding symptoms during her pregnancy, and her vaginal bleeding was not excessive in the first few days after delivery, but it has continued since the delivery and in the past week has increased in flow. Her past medical history is remarkable for an appendectomy at age 14 years without bleeding complications, but she had to return to the oral surgeon for suturing after wisdom tooth extraction at age 16 years. Her family history is remarkable for a sister with heavy menses. Her father had recurrent nosebleeds as a child and had several cauterizations as therapy.

Ehlers-Danlos syndrome

A 24-year-old woman presents with "whole-body" pain for the past year that is not controlled by analgesics. She also has palpitations and dizziness when she gets out of bed in the morning and feels very tired, such that she has to rest after work. She works as a teacher and was formerly an enthusiastic athlete and dancer. In infancy, her legs would tire easily and she would insist on being carried. On several occasions she twisted her ankles badly, limping for several weeks. At age 16 years, her ankles were so "weak" she was forced to give up dancing and athletics. She has a history of recurrent dislocation of the left shoulder. The initial episode occurred when she missed her step and fell down a flight of stairs, but now the shoulder dislocates on minimal provocation, and quite often she has to go to the emergency room to have it reduced. An 8-year-old girl is brought by her mother to see her primary care physician because the girl has pain in her legs at night, especially after physical activities. Her mother reports that as an infant the girl never crawled but "bottom-shuffled" instead. She did not walk until age 20 months and then tended to fall over easily. Her mother noticed that the girl was more 'bendy" than her older siblings and also clumsier, always bumping into furniture. Constantly fidgeting, she was always changing position. She hated walking around shopping malls, preferring to be carried or pushed in the buggy. Her ankles are unstable, and she is often going over on them. She walks with very flat feet and has difficulty keeping up with her friends. She holds a pen in an awkward manner, and her hand gets very tired after writing half a page.

Hodgkin's lymphoma

A 25-year-old man presents to his primary care provider with a slowly enlarging, painless right neck mass. He denies recent upper respiratory tract infections, fevers, night sweats, or unintentional weight loss. He is otherwise healthy. Social history and family history are unremarkable. On examination he is afebrile with normal vital signs. Pertinent findings include a 3-cm, firm, round, nontender, mobile mass in the mid-right neck. There is no other peripheral lymphadenopathy. Liver and spleen are not enlarged

iron deficiency anemia

A 25-year-old woman presents with a history of fatigue, ice craving, and dyspnea upon exertion. She has three children. She did not tolerate prenatal vitamins during pregnancy, because of nausea. Examination reveals pallor and spooning of her nails. Vital signs are normal. There is no lymphadenopathy or hepatosplenomegaly.

Myasthenia Gravis

A 25-year-old woman presents with recurrent slurring of speech that worsens when she continues to talk. She has trouble swallowing, which deteriorates when she continues to eat, and has double vision that gets worse when sewing, reading, or watching TV. She reports that her head is heavy and hard to hold up. Her symptoms have progressively deteriorated over the past 6 months. She has intermittent weakness in her legs and arms. She is fearful of falling due to her legs giving out and she has trouble combing her hair or putting on deodorant. She reports a feeling of generalized fatigue and is occasionally short of breath. A 76-year-old man reports double vision for the past 2 months. Within the past 2 weeks he has developed bilateral ptosis (drooping eyelids). His ptosis is so severe at times that he holds his eyes open to read. He is unable to drive due to the ptosis and diplopia (double vision). His symptoms are generally better in the morning and get worse throughout the day.

Asthma

A 25-year-old woman presents with shortness of breath. She reported that in high school, she occasionally had shortness of breath and would wheeze after running. She experiences the same symptoms when she visits her friend who has a cat. Her symptoms have progressively worsened over the past year and are now a constant occurrence. She also finds herself wheezing when waking from sleep approximately twice a week. An 8-year-old boy presents with intermittent wheeze and cough, and with a history of asthma. Over recent months he has had problems with nighttime wheeze and shortness of breath. He is waking at least 3 or 4 nights per week since recovering from an upper respiratory tract infection. He requires his short-acting beta-2 agonist metered dose inhaler (MDI) to enable him to get back to sleep. He has also noted more problems with wheeze and shortness of breath on minimal playing at school. His general practitioner has tried a leukotriene receptor antagonist in the past, but currently he is managed with short-acting beta-2 agonist as required. He now needs a new short-acting beta-2 agonist MDI every 2 to 3 week

Syphillis

A 27-year-old man notes a painless penile ulcer. He has recently started a new relationship. He is otherwise asymptomatic, as is his partner. On exam, the ulcer is indurated and the inguinal lymph nodes are rubbery and moderately enlarged. A 30-year-old man presents with difficulty hearing conversations while in a crowded room. Following referral for audiometry, bilateral high-frequency hearing loss is diagnosed. On further questioning he reports a past history of an anal fissure about 10 weeks previously that healed spontaneously. He also describes a mild transient skin rash 2 weeks before his auditory symptoms appeared. He says that he has been feeling unusually tired.

Multiple Sclerosis

A 28-year-old white woman who was raised in the northern US and has smoked 1 pack per day for the last 10 years presents with subacute onset of cloudy vision in one eye, with pain on movement of that eye. She also notes difficulty with color discrimination, particularly of reds. She was treated for a sinus infection 2 weeks ago and, on further history, recalls that she had a 3-week history of unilateral hemibody paresthesias during finals week in college 6 years ago. She occasionally has some tingling on that side if she is overly tired, stressed, or hot. A 31-year-old woman with strong family history of autoimmune disease is 6 months postpartum and develops ascending numbness and weakness in both feet, slightly asymmetrically, over a period of 2 weeks. She gradually develops difficulty walking to the point where she presents to an emergency department and is also found to have a urinary tract infection. Other Presentations can present in a myriad of ways in individuals from disparate demographic backgrounds. The most common presentations are optic neuritis and transverse myelitis, but other presentations include brainstem syndromes, cerebellar syndromes (ataxia), and sensory syndromes. Patients may also present with a progressive course, often with foot drop or spastic paraplegias in the later years. May present with depression, cognitive decline, or even psychosis, and should be considered in the differential of these disorders, particularly if there are associated physical symptoms or signs.

Mastitis

A 28-year-old woman in her second postpartum week presents with recent-onset breast pain and a tender wedge-shaped area in one breast that feels firm, warm, and swollen, and appears erythematous. She has decreased milk output, flu-like symptoms, pyrexia of 100.4°F (38°C), and myalgia, in addition to feeling fatigued

Asthma in toddler

A 3-year-old girl presents with a history of episodes of wheeze and troublesome cough over the past 2 years. These episodes are more common through the winter months. On two occasions she has been given oral corticosteroids because of severe wheeze, which was relatively unresponsive to a short-acting beta-2 agonist given via MDI. In the past 6 months she has had monthly episodes of wheezing with shortness of breath, and two of these have resulted in need for frequent short-acting beta-2 agonist. At present she is using a short-acting beta-2 agonist as required, but has used inhaled corticosteroids during the attacks in the past. Between these episodes she is well, although her mother has noted some wheeze after vigorous playing. Her father has asthma and the child herself has eczema.

Aplastic anemia

A 30-year-old man presents with fever and sore throat of 2 days' duration. He reports several months of increasing fatigue and exertional dyspnea, as well as easy bruising. Examination reveals tachycardia, evidence of tonsillopharyngitis, and scattered ecchymoses

infective endocarditis

A 31-year-old woman presents with a 1-week history of fever, chills, fatigue, and unilateral ankle pain. Her past medical history includes mitral valve prolapse and hypothyroidism. She admits to infrequent intravenous heroin use and has a 10-pack-year history of smoking. Physical exam reveals temperature of 102°F (39ºC), regular heart rate 110 beats per minute, blood pressure 110/70 mmHg, and respiration rate of 16 breaths per minute. Her cardiovascular exam reveals a grade 2/4 holosystolic murmur that is loudest at the right upper sternal border. Her right ankle appears red and warm, and is very painful on dorsiflexion.

Tuberculosis

A 34-year-old man presents to his primary care physician with a 7-week history of cough that he describes as nonproductive. He has had a poor appetite during this time and notes that his clothes are loose on him. He has felt febrile at times, but has not measured his temperature. He denies dyspnea or hemoptysis. He is originally from the Philippines and has lived in the US for 10 years. He denies any history of TB or TB exposure. Physical examination reveals a thin, tired-appearing man but is otherwise unremarkable.

Acute bronchitis

A 34-year-old woman with no known underlying lung disease has had a 12-day history of cough that has become productive of sputum. Initially she was not short of breath, but now she becomes short of breath with exertion. She initially had nasal congestion and a mild sore throat, but now her symptoms are all related to a productive cough without paroxysms. She denies any sick contacts. On physical examination she is not in respiratory distress and is afebrile with normal vital signs. No signs of upper respiratory tract infection are noted. Scattered wheezes are present diffusely on lung auscultation.

Gonorrhea

A 35-year-old white man presents with a history of unprotected insertive anal sex with 2 male partners and a 3-day history of urethral irritation, dysuria, and purulent discharge at the meatus. A 24-year-old black woman presents with a history of unprotected vaginal sex with one male partner who told her that he had purulent urethral discharge that was treated as gonorrhea 1 week ago. The woman has had some increased vaginal discharge and pain with intercourse.

Systemic Vasculitis

A 36-year-old woman with a history of chronic sinusitis presents with nasal deformity. She has had nonspecific muscle and joint aches for 2 years, diagnosed as fibromyalgia. For a few years she has regularly noted dark crusts from her nose, occasionally mixed with some blood. A few weeks ago the bridge of her nose started to collapse. She has a prominent saddle nose deformity and nasal septal defect. Sinus biopsy shows only chronic inflammation, but her cytoplasmic-pattern antineutrophil cytoplasmic autoantibody titer is 1:160, consistent with granulomatosis with polyangiitis.

Hypersensitivity pneumonitis

A 38-year-old man presents with fever of 101.2°F (38.5ºC), chills, myalgias, nonproductive cough, and dyspnea. Other than tachypnea, tachycardia, and bibasilar rales, the rest of the physical exam is normal. He reports that this happens almost every month the day after he cleans out the bird cages in which he keeps the pigeons that he breeds and races.

Graves disease

A 38-year-old woman, who in the past had tried to lose weight without success, is happy to see that in the last 2 months she has lost 25 pounds. She also has difficulty sleeping at night. Her husband complains that she is keeping the house very cool. She recently consulted her ophthalmologist because of redness and watering of the eyes. Eye drops were not helpful. She consults her doctor for fatigue and anxiety, palpitations, and easy fatigability. On physical examination, her pulse rate is 100 bpm and her thyroid is slightly enlarged. Conjunctivae are red and she has a stare.

Alpha-1 antitrypsin deficiency

A 39-year-old man presents for the third time in 2 years (to different physicians each time) for evaluation of an intermittent productive cough and increasing dyspnea on exertion. He has a 15 pack-year smoking history, reports thick, yellow phlegm at times, and describes having trouble keeping up when playing with his children. His medical history reveals mild intermittent asthma controlled with an albuterol inhaler. His symptoms have persisted despite stopping smoking, and his asthma exacerbations have increased in frequency, with some attacks being unresponsive to albuterol. Physical exam reveals a generally healthy-looking male. During the exam he experiences coughing with subsequent wheezing on auscultation and a long expiratory phase. Cardiac exam is normal. Spirometry demonstrates an FEV1 of 40% of his predicted value.

Muscular dystrophy

A 4-year-old boy presents with a history of ambulation delayed until 18 months of age, toe walking, calf hypertrophy, and proximal hip girdle muscle weakness. His pediatrician, considering a mild static encephalopathy, did not request screening for myopathy but referred him to an orthopedic surgeon, who found that his creatine kinase levels were greatly elevated, indicating need for referral to a neurologist. His siblings, a boy of 6 years and a girl of 7 years, are apparently well.

Pertussis

A 40-year-old high school teacher presents with cold symptoms lasting 3 weeks. She has low-grade fever, fatigue, and paroxysms of coughing. Her cold symptoms were initially mild but gradually increased in severity, resulting in her presentation to the emergency room. OTC cold medications have not provided relief. A 12-month-old female infant presents with spasmodic cough, cyanosis around her lips and fingers during coughing, and posttussive vomiting. Her parents report that she has had a cold for approximately 3 weeks, and her appetite has decreased. The infant's mother reports that she herself has been coughing for 6 weeks. The infant's immunization records are incomplete.

hypopituitarism

A 40-year-old man has a 12-month history of progressive headaches, weight loss, poor appetite, lethargy, cold intolerance, and erectile dysfunction. He has difficulty seeing the periphery when driving his car. Physical exam is remarkable for bradycardia, gynecomastia, scant body hair, delayed relaxation of his reflexes, and bitemporal hemianopia A 32-year-old woman presents to her doctor with a 10-month history of depression, hot flashes, weight gain, reduced libido, lethargy, cold intolerance, and amenorrhea. She delivered a healthy baby boy 10 months ago; however, the delivery was complicated by a significant postpartum hemorrhage requiring multiple blood transfusions. She was unable to breastfeed her baby and has been amenorrheic since that time. Physical exam is remarkable for a flat affect, bradycardia, weight loss, and delayed relaxation of her reflexes

Osteomyelitis

A 40-year-old man who suffered an open tibial fracture in a motor vehicle accident 6 months ago presents with swelling and pain in his lower leg. A 5-year-old boy fell off his bicycle 2 weeks ago and has stopped walking and complains of nonspecific pain in his leg. His mother reports that he apparently has had the flu, with fever and chills.

Bell's Palsy

A 40-year-old woman awakens with left-sided facial fullness and a subjective feeling of facial and tongue "numbness" without objective hypoesthesia. She also notes left-sided dysgeusia. Later that day she develops left-sided otalgia, hyperacusis, postauricular pain, and facial discomfort. Left-sided facial palsy ensues, with associated oral incompetence, facial weakness, and asymmetry progressing to complete flaccid paralysis by the next morning. On physical exam, the resting appearance of the left face demonstrates brow ptosis, a widened palpebral fissure, effacement of the left nasolabial fold, and inferior malposition of the left oral commissure. There is complete absence of brow movement, incomplete eye closure with full effort, and loss of smile, snarl, and lip pucker on the affected side. The remainder of the history and physical exam are unremarkable.

Wolff-Parkinson-White syndrome

A 42-year-old man complains of palpitations followed by dizziness and brief loss of consciousness. His wife reports that he is pale and short of breath. Emergency medical services were called and found him pulseless. The ECG revealed a rapid, irregular wide complex tachycardia. Later he was successfully resuscitated with two successive direct-current shocks. A 35-year-old man presents to an emergency department with palpitations, SOB, dizziness, and chest pain of 4 hours duration. An ECG demonstrated narrow-complex short RP tachycardia that responded to intravenous adenosine. The ECG during sinus rhythm revealed ventricular pre-excitation.

diabetes insipidus

A 42-year-old man undergoes transsphenoidal surgery for a large, nonfunctioning pituitary macroadenoma. Preoperatively, dynamic pituitary hormone tests were normal, as was his fluid intake and output. Two days following surgery he developed acute polyuria, extreme thirst, and polydipsia. His urine output over the next 24 hours was 6 liters, with frequent nocturia. A 75-year-old woman presents to her family physician with a 6-month history of progressive fatigue and malaise with polyuria, polydipsia, and nocturia. She has a longstanding history of bipolar affective disorder, and has been receiving lithium for the past 15 years.

Huntington disease

A 42-year-old school teacher presents with difficulty managing her classroom. She has become increasingly irritable with students and fails to complete assigned tasks on time. Her sister and husband report that she has become restless, pays less attention to her appearance and social obligations, and at times is anxious and upset. She has stumbled unexpectedly. Her symptoms resemble those of her mother when she was diagnosed with Huntington disease. On examination, her speech is somewhat uneven and she is inappropriately flippant. Subtracting serial 7s from 100, while seated with her eyes closed, brings out random "piano-playing" movements of the digits along with other movements of the limbs, torso, and face. Subtraction errors occur with this task. She is unable to keep her tongue fully protruded for 10 seconds. Finger tapping is slower than the examiner's, and tapping tempo is uneven. Tandem walking is impaired. Other Presentations In children or young adults, may present as a decline in performance at school or work, associated with rigidity and incoordination but little or no chorea.[2] Generalized slowing and awkwardness to movement may be noted, and ocular motility examination often reveals slowed saccadic eye movements. Children are more likely to inherit the disorder from an affected father because the pathogenetic trinucleotide repeat is less stable in spermatogenesis than oogenesis, making it more susceptible to expansion.

Fibrocystic breast disease

A 42-year-old woman presents with bilateral breast pain of mild-to-moderate intensity. Pain is worse just before and improves a few days after the start of her menstrual period. Gynecologic history is significant for grava 2 para 2. She does not take an oral contraceptive. Physical examination of the breasts demonstrates diffuse nodularity throughout both breasts

myocarditis

A 43-year-old man with no significant medical history presents with 3 days of progressive fatigue, dyspnea on exertion and while lying in the supine position, and lower extremity swelling. He reports having a flu-like illness consisting of fevers, myalgias, fatigue, and respiratory symptoms 2 weeks prior that resolved spontaneously. On examination the patient has an elevated jugular venous pressure, bilateral pulmonary rales, and a heart rate of 104 bpm with an audible left ventricular S3 gallop. He is mildly dyspneic at rest but becomes markedly dyspneic with minimal exertion. A 49-year-old man originally from Argentina with a 3-year history of congestive heart failure presents to the emergency room with syncope while at work. He reports speaking with a coworker then suddenly awaking on the floor of the office. The patient's wife states that the patient has had 2 similar episodes in the past. The patient is euvolemic with nondistended neck veins and a normal lung exam. Cardiac exam reveals a laterally displaced apex, and regular rate and rhythm without murmur or gallop but frequent ectopy.

mitral valve prolapse

A 45-year-old man presents for a routine physical exam as part of an insurance medical assessment. He is asymptomatic and has no family history of cardiac disease or sudden cardiac death. On examination, he is of slim build. Blood pressure is 115/65 mmHg, and heart rate 60 beats per minute and regular. On cardiac exam, apex beat is of normal character and nondisplaced. On auscultation, he has a midsystolic click followed by a late-systolic high-pitched murmur. On standing and with Valsalva maneuver, the click and murmur occur earlier in systole and the murmur is of increased intensity. On squatting, the click and murmur occur later in systole and the murmur is softer in intensity. There are no clinical signs of heart failure.

Primary hypothyroidism

A 45-year-old white woman presents with symptoms of fatigue, depression, and mild weight gain. Physical exam demonstrates heart rate of 58 beats per minute, coarse dry skin, and bilateral eyelid edema. Serum thyroid-stimulating hormone (TSH) is 40 mIU/L (normal range, subject to laboratory standards, 0.35 to 6.20 mIU/L), and free T4 is 0.5 nanograms/dL (usual normal range, subject to laboratory standards, is 0.8 to 1.8 nanograms/dL). Therapy is begun with levothyroxine 100 micrograms daily and the patient's symptoms improve. Repeat testing 6 weeks later reveals a normal TSH (5 mIU/L). The patient is maintained on this dose and repeat TSH testing is planned yearly or if symptoms recur.

acromegaly

A 47-year-old man presents with arthritic pain of knees and hips, soft-tissue swelling, and excessive sweating. He also noticed progressive enlargement of the hands and feet. He has been taking antihypertensive medication for the past 3 years. On physical examination, he has coarse facial features with prognathism and prominent supraorbital ridges. The tongue is enlarged and the fingers are thickened. His wife complains that he frequently snores. Laboratory workup reveals an elevated plasma insulin-like growth factor 1 (IGF-1) concentration of 560 micrograms/L (normal for age, 120-235 micrograms/L) and a basal plasma growth hormone level of 15 micrograms/L. MRI examination of the sella turcica region shows a 14 mm pituitary mass with right cavernous sinus invasion. A 15-year-old girl presents with primary amenorrhea and accelerated growth. On physical examination, her height is above the 90th percentile, her pubertal development is evaluated at Tanner stage 2, and she has soft-tissue swelling. Laboratory workup reveals a moderately elevated serum prolactin concentration of 44 micrograms/L (normal, <20 micrograms/L) and an elevated IGF-1 level of 1525 micrograms/L (normal for age, 198-551 micrograms/L). Pituitary MRI shows a 15 mm pituitary mass without parasellar extension

Addison disease

A 48-year-old man has a 4-month history of increasing fatigue and anorexia. He has lost 12.2 lb (5.5 kg) and noticed increased skin pigmentation. He has been otherwise healthy. His mother has Hashimoto thyroiditis and one of his sisters has type 1 diabetes. His blood pressure is 110/85 mmHg (supine) and 92/60 mmHg (sitting). His face shows signs of wasting and his skin has diffuse hyperpigmentation, which is more pronounced in the oral mucosa, palmar creases, and knuckles. A 54-year-old woman with hypothyroidism complains of persistent fatigue, despite adequate thyroxine replacement. She has noticed increasing lack of energy for the past 3 months and additional symptoms of anorexia and dizziness. She also has significant loss of axillary and pubic hair. Her blood pressure is 105/80 mmHg (supine) and 85/70 mmHg (sitting). The only abnormal finding on physical examination is a mild increase in thyroid size, with the thyroid having rubbery consistency.

Stable Ischemic Heart Disease

A 50-year-old man presents to clinic with a complaint of central chest discomfort after walking for more than 5 minutes or climbing more than one flight of stairs for the past 2 weeks. The chest discomfort resolves with rest within several minutes. He is obese, has a history of hypertension, and smokes 10 cigarettes a day. His father died from a myocardial infarction at the age of 54 years. On examination, his blood pressure is 144/92 mmHg with a heart rate of 82 bpm. The remainder of his exam is normal. A 60-year-old man with a history of a myocardial infarction presents to clinic for follow-up. He was started on aspirin, beta-blocker, and statin therapy after his heart attack. In the past 2 weeks the patient has noted return of chest pressure when he walks rapidly. The chest pressure resolves with sublingual nitroglycerin or a decrease in his activity level. He is a former smoker and has modified his diet and activity to achieve his goal body weight. He is normotensive on exam with a heart rate of 72 bpm. The remainder of his exam is normal.

Secondary hyperparathyroidism

A 50-year-old obese woman with longstanding, poorly controlled diabetes presents with lethargy and fatigue. Screening labs report that she has a creatinine level of 2.5 mg/dL and a BUN level of 40 mg/dL. Additional labs are ordered, which reveal a calcium level of 7.4 mg/dL and a phosphorus level of 5.9 mg/dL. The parathyroid hormone level is 400 picograms/mL. An 85-year-old female nursing-home patient is being seen for postmenopausal skeletal disease that has become a concern after she fell and broke her wrist. Her bone densitometry reveals osteoporosis (T-score: -3.5). Lab tests return with a calcium level of 8.8 mg/dL and a parathyroid hormone level of 120 picograms/mL. These results prompt vitamin D testing that returns a 25-hydroxyvitamin D level of 14 nanograms/mL.

Carpal tunnel (Compression neuropathies)

A 50-year-old woman presents with numbness and tingling in her hands. The symptoms are worse in her right (dominant) hand and with activities such as holding a book or a steering wheel, or brushing her hair. The discomfort in her hands frequently wakes her at night and she has to shake or hang her hand out of her bed for relief. Other Presentations Pain or aching usually on the anterior aspect of the wrist (commonly in the region of the distal wrist crease), worse after activity or during the night. Aching often extends from the wrist to the forearm in many patients and to the upper arm in some. Clumsiness, loss of hand dexterity, and complaints of dropping things may be presenting features, mostly due to loss of afferent feedback from key functional fingers (first to third fingers in particular). There may be evidence of weakness and wasting in the hand, particularly over the thenar eminence.

Goodpasture syndrome

A 52-year-old white man presents to his physician complaining of 1 week of progressively worsening weakness, anorexia, malaise, cough, and dark urine. He reports feeling bad for the past few weeks and thought that he was simply recovering slowly from an upper respiratory tract infection. Over the past 2 days he has been alarmed to notice small amounts of blood in his sputum. He has been having some shortness of breath. He has no prior personal or family history of renal disease. He has been a smoker for 30 years and he smokes 1 pack of cigarettes a day. He works as an auto mechanic.

Rheumatoid arthritis

A 52-year-old woman presents with a 2-month history of bilateral hand and wrist pain, and swelling in her fingers. She has also recently noted similar pain in the balls of her feet. She finds it hard to get going in the morning and feels stiff for hours after waking up. She also complains of increasing fatigue and is unable to turn on and off faucets or use a keyboard at work without a significant amount of pain in her hands. She denies any infections before or since her symptoms started.

mitral regurgitation

A 52-year-old woman presents with dyspnea on exertion, fatigue, and occasional palpitations. She has no prior cardiac history. She denies chest pain, orthopnea, paroxysmal nocturnal dyspnea, or lower extremity edema. On physical exam her jugular venous distension is around 12 cm and her lungs are clear to auscultation. Cardiac exam reveals a slightly displaced apical impulse with a palpable P2. Cardiac auscultation reveals III/VI holosystolic murmur at the apex that radiates to the axilla with diminished S1 and P2 greater than A2

Mitral Stenosis

A 52-year-old woman presents with gradually increasing dyspnea on exertion over the past 2 years. Recently she has required 2 pillows at night to alleviate recumbent dyspnea. On examination, she has an apical diastolic murmur. A 36-year-old prima gravida presents with dyspnea on exertion and 2 pillow orthopnea during her second trimester. Previous physical examinations had disclosed no cardiac abnormalities. On current physical examination she has a loud first heart sound and a 2/6 diastolic rumble.

Gout

A 54-year-old man complains of severe pain and swelling in his right first toe that developed overnight. He is limping because of the pain and states that this is the most severe pain he has ever had ("even covering my foot with the bed sheet hurts"). He has had no previous episodes. His only medication is hydrochlorothiazide for hypertension. He drinks 2 to 3 beers a day. On examination, he is obese. There is swelling, erythema, warmth, and tenderness of the right first toe. There is also tenderness and warmth with mild swelling over the mid foot. An 85-year-old man presents with several days of swelling and severe pain in both hands limiting his ability to use his walker. He has a history of gout but has not experienced these symptoms before. On examination, he has a temperature of 100.1°F (37.8°C). There is diffuse warmth, mild erythema, and pitting edema over the dorsum of both hands. There is tenderness and limited hand grip bilaterally. There are multiple nodules around several of the proximal interphalangeal and distal interphalangeal joints, and effusion and tenderness in his left olecranon bursa with palpable nodules

Cushing syndrome

A 54-year-old man presents for evaluation of an incidentally discovered adrenal nodule. He underwent a computed tomography scan of the abdomen for evaluation of abdominal pain, which was negative except for a 2 cm well-circumscribed, low-density (2 Hounsfield units) nodule in the right adrenal gland. He reports weight gain of 15 kg over the past 4 years. He has difficult-to-control type 2 diabetes and hypertension. He has had 2 episodes of renal colic in the last 5 years. A 34-year-old woman presents with complaints of weight gain and irregular menses for the last several years. She has gained 20 kg over the past 3 years and feels that most of the weight gain is in her abdomen and face. She notes bruising without significant trauma, difficulty rising from a chair, and proximal muscle wasting. She was diagnosed with type 2 diabetes and hypertension 1 year ago.

Primary aldosteronism

A 54-year-old man presents with a 10-year history of hypertension that has been difficult to control with antihypertensive medications. His symptoms include frequent headaches, nocturia (3 to 4 times per night), and lethargy. He has no other medical conditions or past medical history. Apart from a blood pressure (BP) of 160/96 mmHg, findings on physical examination are unremarkable. Plasma electrolytes are normal. A 28-year-old woman presents with a 2-year history of hypertension, associated with nocturia (4 to 5 times per night), polyuria, palpitations, limb paresthesias, lethargy, and generalized muscle weakness. There is no other past medical history. Physical examination is unremarkable apart from a BP of 160/100 mmHg, global hyporeflexia, and weak muscles. Plasma potassium is 2.2 mEq/L, bicarbonate is 34 mEq/L, and serum creatinine is normal.

ST Elevation Myocardial Infarction (STEMI)

A 54-year-old man with a medical history of hypertension, diabetes, dyslipidemia, smoking, and family history of premature coronary artery disease presents with retrosternal crushing chest pain (10/10 in intensity), radiating down the left arm and left side of the neck. He feels nauseated and lightheaded and is short of breath. Examination reveals a hypotensive, diaphoretic man in considerable discomfort with diffuse bilateral rales on chest auscultation. ECG reveals convex ST-segment elevation in leads V1 to V6. A 70-year-old woman is 2 days postoperative for knee replacement surgery. Her past medical history includes type 2 diabetes and a 40 pack-year history of smoking. She reports feeling suddenly ill with dizziness, nausea, and vomiting. She denies any chest pain. On exam she is hypotensive and diaphoretic. ECG shows convex ST-segment elevation in leads II, III, and aVF with reciprocal ST segment depression and T-wave inversion in leads I and aVL.

Non-Hodgkin's Lymphoma

A 55-year-old male farmer presents with worsening shortness of breath, night sweats, fevers, bilateral axillary lymphadenopathy, and a 7.7 kg (12%) total body weight loss over 3 months. Recently, he has not been able to work because of fatigue. Physical exam revealed a 3.5 cm left axillary mass, enlarged cervical, axillary, and inguinal lymph nodes, splenomegaly, and no hepatomegaly. A 56-year-old woman presents with a painless right neck lump that has been slowly enlarging for the last 2 years. She denies fevers, night sweats, or weight loss. Physical exam reveals bilateral cervical and axillary adenopathy and a palpable spleen.

Paget's disease

A 55-year-old man complains of persistently aching legs. He is initially diagnosed with fibromyalgia. However, his blood tests reveal an elevated serum alkaline phosphatase. Subsequent x-ray of the tibia and fibula shows defects in the cortical and cancellous bone, with some degree of tibial bowing A late middle-aged woman presents with chronic right hip and anterior thigh pain, with increased localized temperature. Lately, she has needed a cane for walking. During the past 6 months her relatives have noticed a progressive hearing loss on her left side, as well as some facial changes - mostly enlargement of her mandible.

metabolic syndrome

A 55-year-old man presents with elevated aminotransferases on laboratory investigation. He also has episodes of sleep apnea. He smokes about 20 cigarettes a day and his father had a myocardial infarction at the age of 52 years. Physical exam reveals hypertension (BP 152/90 mmHg) and abdominal obesity (waist circumference 43 inches [110 cm]). He has an impaired fasting glucose (113 mg/dL), and the lipid profile shows high triglycerides (240 mg/dL), high total cholesterol (213 mg/dL) and LDL-cholesterol (130 mg/dL) levels, and low HDL-cholesterol (35 mg/dL) levels. A 27-year-old woman presents with abdominal obesity, hirsutism, acne, and polycystic ovaries on gonadal ultrasonography. She reports 3 to 4 menstrual periods per year. On examination, her BMI is 33 kg/m², waist circumference is 37 inches (94 cm), and BP is 130/83 mmHg. Her serum total testosterone level is elevated (101 nanograms/dL; normal range 20-75 nanograms/dL). She has an impaired fasting glucose (117 mg/dL), and the lipid profile shows high triglycerides (190 mg/dL), high total cholesterol (201 mg/dL) and LDL-cholesterol (125 mg/dL) levels, and low HDL-cholesterol (38 mg/dL) levels.

aortic regurgitation

A 55-year-old white man presents with weakness, palpitations, and dyspnea on exertion. On physical exam, his blood pressure is 148/50 mmHg with a bounding pulse and an early diastolic murmur over the left sternal border. He denies any history of drug abuse, rheumatic fever, or connective tissue disorder. The patient is taking hydrochlorothiazide for high blood pressure. Echocardiography reveals a left ventricular ejection fraction (LVEF) of 55%, left ventricular end-diastolic diameter of 70 mm, and end-systolic diameter of 50 mm A 31-year-old black man presents to clinic for the first time for a routine physical exam. He denies any complaints. On physical exam the only abnormality is a systolic murmur best heard over the second right intercostal space and an early diastolic murmur best heard over the third left sternal border. LVEF is 55% to 60% with mild LVH. Left ventricular end-systolic diameter is 45 mm and aortic root diameter is 3.5 cm.

bronchiectasis

A 55-year-old woman presents for evaluation of a chronic cough, productive of thick, yellow sputum that sometimes becomes blood-tinged. She has experienced recurrent episodes of fever associated with pleuritic chest pain. She states that she is embarrassed by the persistent, intractable nature of her cough and has been prescribed multiple courses of antibiotics. Over the last 5 years, she has developed shortness of breath with exertion. Her past medical history is significant for pneumonia as a child and sinus polyps during adulthood for which she has had surgery

Vascular dementia

A 65-year-old man presents with difficulty in decision-making and planning, which is of abrupt onset and occurs 3 months after a stroke. He has strong vascular risk factors, including smoking. Over time, there has been a fluctuating stepwise reduction in cognitive function. There is a history of nocturnal confusion and incontinence. On examination there is evidence of focal neurologic deficit with pseudobulbar palsy and extrapyramidal signs. Neuro-imaging indicates a probable vascular etiology with white matter changes and infarction.

Encephalitis

A 56-year-old man presents to the emergency department with headache, fever, blurred vision, and somnolence followed shortly by unresponsiveness to verbal commands. For the last 2 weeks he had been feeling ill, and had decreased appetite and myalgias. Three days prior to presentation he experienced intermittent confusion, severe headache, and fever. Examination was limited by a generalized tonic-clonic seizure, for which he received lorazepam. A 19-year-old man presents to the emergency department with a witnessed generalized tonic-clonic seizure episode. One month previously he had an upper respiratory tract infection. Over the last 2 weeks he developed headaches, blurred vision, generalized weakness, and progressive difficulty walking. Examination revealed pain on eye movement as well as limb and gait ataxia.

Sickle cell anemia

A 6-month-old boy with no previous medical problems presents with fever and painful swelling of the hands and feet. His parents are concerned because he has been inconsolable for 6 hours. The infant has been refusing bottles and has needed fewer diaper changes over the last 2 days. The family recently moved from a country without established pregnancy and neonatal screening.

ARDS

A 60-year-old man presents with acute onset of shortness of breath, fever, and cough. A chest x-ray shows a right lower lobe infiltrate, and sputum has gram-positive diplococci. He is given intravenous antibiotics but his respiratory status declines over 24 hours. He becomes hypotensive and is transferred to the intensive care unit. He is intubated for hypoxemia and requires vasopressors for septic shock despite adequate volume resuscitation. He requires high levels of inspired oxygen (FiO₂) and positive end-expiratory pressure on the ventilator to keep his oxygen saturation >90%. Repeat chest x-ray shows bilateral alveolar infiltrates, and his partial pressure of oxygen, arterial (PaO₂)/FiO₂ ratio is 109.

Amyotrophic lateral sclerosis

A 60-year-old man presents with right foot drop, which has developed gradually over the last year and progressed to involve more proximal areas in the last 2 months. The patient reports associated muscle twitching and painful muscle cramps involving the same areas. The neurologic examination reveals bilateral lower-extremity weakness, more severe on the right, with associated spasticity, atrophy of the right foot intrinsic muscles, diffuse fasciculations, and hyperreflexia, with deep tendon reflexes being brisker on the right lower extremity, and a positive right Babinski sign. Sensation is preserved throughout. Several other family members have been diagnosed (some have died) with a pattern suggesting autosomal dominant disease. A 65-year-old woman presents with progressive slurred speech with nasal quality, and episodes of choking on liquids, for the last 4 to 5 months. Neurologic examination reveals facial and tongue weakness, tongue muscle wasting and fasciculations, dysarthria, hypophonic speech, and brisk reflexes throughout (including jaw jerk). Other Presentations Patients may present with associated cognitive and behavioral impairment that may precede the onset of motor neuron disease symptoms or may become evident late in the disease course. Some of these patients have frontotemporal dementia meeting the Neary criteria (consensus guidelines for the clinical diagnosis of frontotemporal dementia).[3] [4] Patients may occasionally have associated extrapyramidal-type (parkinsonian) symptoms, such as rigidity, resting tremor, postural instability, bradykinesia, or bradyphrenia. They may also present with a combination of UMN and/or LMN symptoms and signs, extrapyramidal signs, and frontotemporal-type cognition deficit. Patients may develop associated autonomic symptoms, such as urinary urgency, constipation, and perspiration, later in the course of the disease.

Osteoarthritis

A 60-year-old woman presents complaining of bilateral knee pain almost daily for the past few months. The pain was gradual in onset. The pain is over the anterior aspect of the knee and gets worse with walking and going up and down stairs. She complains of stiffness in the morning that lasts for a few minutes, and a buckling sensation at times in the right knee. On exam, there is a small effusion, diffuse crepitus, and limited flexion of both knees. Joint tenderness is more prominent over the medial joint line bilaterally. She has a steady but slow gait, slightly favoring the right side. A 55-year-old woman has had pain and swelling in several fingers of both hands for the past 2 months. She describes morning stiffness lasting 30 minutes. Her mother tells her that she had a similar condition at the same age. She denies any other joint pain or swelling. On exam, she has tenderness, slight erythema, and swelling in one proximal interphalangeal joint and two distal interphalangeal joints in each hand. She has squaring at the base of her right thumb (the first carpometacarpal joint). There is no swelling or tenderness in her metacarpophalangeal joints.

essential hypertension

A 64-year-old black man presents for a routine visit to establish care. He denies past medical problems, but has been told that his blood pressure was a little high. He has no complaints, takes no medications, tries to adhere to a healthy diet, and rarely exercises. He reports that over the previous 5 years he has gained 15 lb (6.8 kg). Review of systems is otherwise noncontributory. Physical exam is notable for obesity and blood pressure 172/86 mmHg. The remainder of the exam is unremarkable

Abdominal Aortic Aneurysm (AAA)

A 65-year-old man presents to his local aneurysm surveillance team for a screening ultrasound scan. He has been feeling well and in his usual state of good health. His medical history is notable for mild hypertension and he has a 100-pack-year tobacco history. On ultrasound an infrarenal AAA is identified A 55-year-old man with a history of hypertension (well controlled with medication) and tobacco use presents to his primary care physician with a 2-day history of constant and gnawing hypogastric pain. The pain has been steadily worsening in intensity. He says the pain radiates to his lower back and both groins at times. While he cannot identify any aggravating factors (such as movement), he feels the pain improves with his knees flexed. There is a palpable pulsatile mass just left of midline below the umbilicus. He is immediately referred for definitive management, but during transfer becomes hypotensive and unresponsive

Pulmonary embolism

A 65-year-old man presents to the emergency department with acute onset of shortness of breath of 30 minutes' duration. Initially, he felt faint but did not lose consciousness. He is complaining of left-sided chest pain that worsens on deep inspiration. He has no history of cardiopulmonary disease. A week ago he underwent a total left hip replacement and, following discharge, was on bed rest for 3 days due to poorly controlled pain. He subsequently noticed swelling in his left calf, which is tender on examination. His current vital signs reveal a fever of 100.4°F (38.0°C), heart rate 112 bpm, BP 95/65 mmHg, and an O₂ saturation on room air of 91%.

Acute A-fib

A 65-year-old man with a history of hypertension, diabetes mellitus, and hyperlipidemia presents to the emergency department with the first episode of rapid palpitations, shortness of breath, and discomfort in his chest. These symptoms started acutely and have been present for 4 hours. Physical exam shows an irregularly irregular radial pulse at a rate between 90 -110 bpm, BP 110/70 mmHg, and respiratory rate of 20 breaths per minute. Heart sounds are irregular, but no third or fourth heart sound gallop or murmurs are audible. There are no other abnormalities on examination.

unstable angina

A 65-year-old man, who smokes and has a history of hypertension and peripheral vascular disease, now presents with increasing frequency and severity of chest discomfort over the past week. He reports previously having chest pain after walking 3 blocks but now is unable to walk more than half a block without developing symptoms. The pain radiates to the left side of the neck and is only eased after increasing periods of rest A 45-year-old woman, with a history of type 1 diabetes diagnosed when she was a teenager, presents to the emergency department complaining of abdominal pain, nausea, and shortness of breath that woke her up from sleep.

DVT

A 65-year-old woman presents with unilateral leg pain and swelling of 5 days' duration. There is a history of hypertension, congestive heart failure, and recent hospitalization for pneumonia. She had been recuperating at home but on beginning to walk, her right leg became painful, tender, and swollen. On examination, there is pitting edema on the right and the right calf is 4 cm greater in circumference than the left when measured 10 cm below the tibial tuberosity. Superficial veins on the right foot are more dilated than on the left and easily visible. The right leg is slightly redder than the left. There is tenderness on palpation in the popliteal fossa behind the right knee.

COPD

A 66-year-old man with a smoking history of one pack per day for the past 47 years presents with progressive shortness of breath and chronic cough, productive of yellowish sputum, for the past 2 years. On examination he appears cachectic and in moderate respiratory distress, especially after walking to the examination room, and has pursed-lip breathing. His neck veins are mildly distended. Lung examination reveals a barrel chest and poor air entry bilaterally, with moderate inspiratory and expiratory wheezing. Heart and abdominal examination are within normal limits. Lower extremities exhibit scant pitting edema. A 56-year-old woman with a history of smoking presents to her primary care physician with shortness of breath and cough for several days. Her symptoms began 3 days ago with rhinorrhea. She reports a chronic morning cough productive of white sputum, which has increased over the past 2 days. She has had similar episodes each winter for the past 4 years. She has smoked 1 to 2 packs of cigarettes per day for 40 years and continues to smoke. She denies hemoptysis, chills, or weight loss and has not received any relief from over-the-counter cough preparations.

Chronic congestive heart failure

A 67-year-old woman presents to her primary care physician complaining of increasing shortness of breath, especially when trying to sleep. She has a history of poorly controlled hypertension and hyperlipidemia, and is being treated with a beta-blocker and statin therapy. She does not smoke and drinks alcohol in moderation. On examination, her blood pressure is 160/90 mmHg and heart rate is 126 beats per minute. There is an audible S4 and the jugular venous pressure is elevated 3 cm above normal. There is no edema, but she has fine bilateral mid to lower zone crepitation on lung examination. The ECG shows left ventricular hypertrophy and a transthoracic echocardiogram shows left ventricular hypertrophy, left atrial dilatation, normal left and right ventricular systolic function, with a left ventricular ejection fraction of 60%. A 60-year-old man presents to the emergency department. He reports being progressively short of breath. He has a history of hypertension, noninsulin-dependent diabetes mellitus, and has been a heavy smoker for more than 40 years. He underwent a successful primary angioplasty for a large acute anterior myocardial infarction 2 months ago. His blood pressure is 75/40 mmHg, his heart rate 110 beats per minute, and his respiratory rate 30. He has elevated neck veins and a prominent S3. His ECG shows sinus tachycardia, and a transthoracic echocardiogram performed in the emergency department reveals impaired left ventricular systolic function, with an ejection fraction of 20%.

Acute COPD exacerbation

A 67-year-old woman with a history of COPD presents with 3 days of worsening dyspnea and increased frequency of coughing. Her cough is now productive of green, purulent sputum. The patient has a 100-pack-year history of smoking. She has had intermittent, low-grade fever of 100°F (37.7°C) for the past 3 days and her appetite is poor. She has required increased use of rescue bronchodilator therapy in addition to her maintenance medications to control symptoms.

Vitamin B12 deficiency

A 68-year-old man presents for a routine physical exam and follow-up for his hypertension, hyperlipidemia, and hypothyroidism. He complains of mild fatigue but is otherwise healthy. Laboratory evaluation is remarkable for a hematocrit of 34, with an MCV of 110 fL. On further query, he denies alcohol use and any other symptoms.

Parkinson disease

A 69-year-old man presents with a 1-year history of mild slowness and loss of dexterity. His handwriting has become smaller, and his wife feels his face is less expressive and his voice softer. Over the last few months he has developed a subtle tremor in the right hand, noted while watching television. His symptoms developed insidiously but have mildly progressed. He has no other medical history, but he has noted some mild depression and constipation over the last 2 years. His examination demonstrates hypophonia, masked facies, decreased blink rate, micrographia, and mild right-sided bradykinesia and rigidity. An intermittent right upper extremity resting tremor is noted while he is walking. The rest of his examination and a brain magnetic resonance imaging are normal. Other Presentations The cardinal features of resting tremor, bradykinesia, rigidity, and postural instability can occur in various combinations and sequences during the course of the disease. The signs and symptoms are typically asymmetric. Bradykinesia and rigidity often present in subtle fashion early in the disease course. For example, reduced arm swing, shuffled gait, softened voice, decreased blink rate, decreased facial expressivity, and reduced spontaneous movement are all signs. The nonmotor symptoms, such as depression, anxiety, fatigue, autonomic dysfunction (e.g., orthostatic hypotension, constipation, incontinence, dysphagia), and sleep disturbance, may precede the evolution of motor symptoms.

Folate deficiency

A 70-year-old man presents for a routine physical exam. He complains of fatigue, shortness of breath, and painful swallowing. He admits to daily alcohol consumption and decreased consumption of fresh vegetables and fruits. Physical exam reveals pallor, glossitis, flow murmur, and normal neurologic exam.

Osteoporosis

A 70-year-old woman presents to the emergency department after falling while getting out of bed. She sustained an intertrochanteric fracture of the right hip. Preoperative chest x-ray evaluation before repair of the hip reveals that she had existing asymptomatic vertebral fractures before her fall. A 70-year-old man, 6 months after renal transplantation and on corticosteroid treatment, presents with severe back pain. X-ray evaluation of the thoracic and lumbar spine discloses evidence of multiple vertebral compression fractures.

Pleural effusion

A 70-year-old woman presents with slowly increasing dyspnea. She cannot lie flat without feeling more short of breath. She has a history of hypertension and osteoarthritis, and she has been taking nonsteroidal anti-inflammatory drugs with increasing frequency over the previous few months. On physical examination, she appears dyspneic at rest, her blood pressure is 140/90 mmHg, and pulse is 90 bpm. Her jugular venous pressure is elevated to the angle of the jaw. The left lung field is dull to percussion with quiet breath sounds basally. Crackles are heard in the right lung field and above the line of dullness on the left. Lower extremities have pitting edema to the knee. A 56-year-old man has pain in his right chest with deep inspiration and is short of breath at rest and with exertion. He has felt feverish for 1 week and complains of a productive cough with foul-smelling and -tasting sputum. He regularly drinks alcohol and was inebriated and vomited 1 week before his symptoms began. Past medical history and family history are unremarkable. On physical examination, he is febrile at 100.7°F (38°C), blood pressure is 130/78 mmHg, and pulse is 110 bpm. He looks ill and has poor dental hygiene. Breath sounds are quiet over the right lower lobe with dullness to percussion and decreased tactile fremitus in the lower half of the lung field.

Chronic A-fib

A 70-year-old woman with a history of hypertension, diabetes mellitus, hyperlipidemia, and prior myocardial infarction presents to the emergency department with palpitations and shortness of breath. These symptoms started 2 days ago. She was diagnosed to have AF with rapid ventricular rate response a year and a half ago, at which time an attempted direct current cardioversion and a trial of sotalol to maintain sinus rhythm and prevent further episodes of AF were unsuccessful. The patient was treated with digoxin and metoprolol to control rate and warfarin to prevent stroke. Current physical exam shows that she is febrile and has an irregularly irregular radial pulse at a rate between 90 and 110 beats per minute, blood pressure 100/70 mmHg, and respiratory rate of 26 breaths per minute. Heart sounds are irregular, but no S3 or S4 gallop or murmurs are audible. The breath sounds are of bronchial character associated with crepitations over left basal lung area.

cardiac arrest / sudden cardiac death

A 70-year-old woman with a history of hypertension, hyperlipidemia, 40 pack-years of cigarette smoking, and remote percutaneous transluminal coronary angioplasty is witnessed falling to the ground while shoveling her sidewalk. She has not complained of any preceding symptoms. The emergency medical personnel who respond quickly to the scene find her unconscious and pale, with agonal respirations but without a pulse. After the pads from an automated external defibrillator are attached, the patient is noted to be in ventricular fibrillation.

Osteomalacia

A 72-year-old man is evaluated for increasing fatigue and bone pain. His medical history is significant for chronic alcoholism, lactose intolerance, and a vertebral compression fracture 1 year ago. He is housebound without any sunlight exposure. He denies any personal or family history of kidney stones, fractures, or osteoporosis. His physical exam is remarkable for generalized tenderness of the long bones and proximal muscle weakness, with difficulty climbing stairs and a waddling gait.

Shock

A 72-year-old man presents with progressive malaise, weakness, and confusion. He suffers from hypertension but this is well controlled with a thiazide diuretic and an ACE inhibitor. He has diabetes, treated with metformin, but no other medical problems, and he is able to perform all activities of daily living independently. The patient's wife reports general deterioration over the last 2 days. The patient appears severely ill, weak, and obtunded, and is unable to speak. His skin is mottled and dry with cool peripheries, and he is mildly cyanotic. Respiratory rate is 24 breaths/minute, pulse rate 94 beats/minute, blood pressure 87/64 mmHg, and temperature 95.9°F (35.5°C). Auscultation yields coarse crackles over both lung bases. A 45-year-old man presents to the emergency department with upper abdominal pain and a history of peptic ulcer disease. He reports vomiting blood at home. He is otherwise well, takes no medications, and abstains from use of alcohol. While in the emergency department he vomits bright red blood into a bedside basin and becomes light-headed. Blood pressure is 86/40 mmHg, pulse 120 bpm, and respiratory rate 24 per minute. His skin is cool to touch, and his skin is pale and mottled.

Pseudogout / Calcium Pyrophosphate Crystal Deposition Disease

A 72-year-old woman presents with polyarticular joint pain. She has long-standing mild joint pain, but over the last 10 years notes increasing discomfort in her wrists, shoulders, knees, and ankles. She has had several recent episodes of severe pain in one or two joints, associated with swelling and warmth of the affected areas. These episodes often last 3-4 weeks. Her exam shows severe bony changes consistent with osteoarthritis in many joints, and slight swelling, warmth, and tenderness without erythema in the second and third metacarpophalangeal joints, left shoulder, and right wrist. An 80-year-old man presents with a swollen red wrist, fever, and chills. He recalls falling out of his wheelchair several days ago but seemed well until 24 hours before admission, when he developed pain in his right wrist. His daughter noted fever and some confusion and brought him to the hospital. On exam, he appears ill and has a fever of 102ºF (39ºC). There is swelling, tenderness, and redness around the right wrist with edema over the dorsum of the hand.

orthostatic hypotension

A 75-year-old man presents to the emergency department after a syncopal episode when he got up at night to pass urine. He has recently been started on the alpha-blocker tamsulosin at bedtime after complaining of urinary frequency and a weak urinary stream, and physical exam had revealed an enlarged prostate. On questioning, he says that he has previously had occasional episodes of lightheadedness when standing for prolonged periods in church or when gardening on a hot day. A 56-year-old obese woman with a 12-year history of diabetes mellitus that has not been well controlled presents with lightheadedness on standing, relieved by sitting down. She has not had syncopal spells, but these episodes of lightheadedness are worse after meals and are impairing her quality of life. She also admits to burning pain in her feet and lower legs that is more severe at night and associated with numbness and inappropriate pain and discomfort to touch (allodynia).

Normal pressure hydrocephalus

A 75-year-old man presents with problems walking that have developed over the previous 2 years, consisting of slow gait, imbalance (especially on turning), short stride length, and gait initiation failure. He reports urinary frequency, occasional urge incontinence, and some memory loss. On examination, his symptoms are symmetric and much more prominent in the lower half of the body, with relative sparing of hand function, and normal facial expressiveness. He has previously been diagnosed with Parkinson disease; however, therapy with levodopa has not improved his symptoms.

Systemic vasculitis (geriatric)

A 75-year-old man with an unremarkable past medical history presents with a complaint of new headache for the past 2 weeks. He notes that the headache is localized over the left temple. Two weeks prior to the onset of headache, he noted pain and stiffness in the shoulders and hips, which made it difficult to rise from bed in the morning, but progressively improved throughout the day. A few days prior to his evaluation, he noted jaw pain on chewing, and notes in retrospect that he had begun to avoid certain foods (such as steak) because of the associated discomfort. Laboratory evaluation demonstrates evidence of inflammation, including an elevated erythrocyte sedimentation rate, C-reactive protein, and platelets. The complaints of new headache and jaw claudication in the setting of systemic inflammation are consistent with a diagnosis of giant cell arteritis.

SIADH

A 76-year-old homeless white man presents to the emergency department after police find him disoriented on the streets in late August. The patient gives little history, but admits to ongoing cough with productive sputum, night sweats/chills, and mild dyspnea. He proceeds to suffer from a seizure. Vital signs demonstrate an elevated temperature at 101.7°F (38.7°C), a respiration rate of 26 breaths per minute, 94% oxygen saturation (on 3 L of O2), and pulse 87 bpm, with no evidence of orthostatic hypotension. Physical exam demonstrates a malnourished and disheveled man in a postictal state. There is no sign of injury to the body. Crackles can be heard at the right lung base. Lab work demonstrates serum sodium of 120 mEq/L, serum creatinine of 1.0 mg/dL, and negative alcohol and toxicology screens. Chest x-ray demonstrates a large infiltrate in the right lower lung, consistent with pulmonary infection or abscess.

Alzheimer's disease

A 76-year-old white woman is brought to the physician by her children because she is becoming more forgetful. She used to pay her bills independently and enjoyed cooking but has recently received overdue notices from utility companies and found it difficult to prepare a balanced meal. She has lost 3.5 kg in the past 3 months, and left the water running in her bathtub and flooded the bathroom. When her children express their concerns, she becomes irritable and resists their help. Her house has become more cluttered and unkempt. On a past visit to her physician, she had normal laboratory tests for metabolic, hematologic, and thyroid function. The current evaluation reveals no depressive symptoms and 2/15 on the Geriatric Depression Scale short-form. Her Mini-Mental State Examination score is 20/30. A 54-year-old black woman is referred to the neurology clinic by her primary care physician for evaluation of memory problems. The woman is brought to the clinic by family members who are concerned that she has been more forgetful in the past year. They report she has difficulty recalling birthdays and anniversaries and is not managing common household tasks such as cooking and paying bills. Her sister had onset of dementia in her early 40s and was institutionalized because she was unable to care for herself. The woman was last seen by her primary care physician 3 months ago, when she had a routine workup, which was reported to be unremarkable. Neurologic examination revealed no significant abnormalities. Neuropsychological testing demonstrated severe impairment in executive function, deficits in visuospatial testing, and delayed speed of processing information. Mini-Mental State Examination score is 20/30.

Atrial flutter

A 77-year-old man presents with complaints of palpitations and new shortness of breath, especially with exertion. He has a history of rheumatic fever in childhood. He has been told he has a murmur but does not recall having had an echocardiogram. He is otherwise healthy A 76-year-old man presents with progressive symptoms of dyspnea and increasing peripheral edema. He denies palpitations. He has a history of congestive heart failure from hypertensive heart disease. He reports that he is taking his medications as directed and has had no recent medication or dietary changes

aortic stenosis

A 78-year-old man presents to his primary care physician complaining of 2 months of progressive shortness of breath on exertion. He first recognizes having to catch his breath while gardening and is now unable to walk up the stairs in his house without stopping. Previously he was healthy and active without similar complaints. On physical exam there is a loud systolic murmur at the right upper sternal border radiating to the carotids.

Sepsis in adults

A 78-year-old woman presents to the hospital for an elective right hemicolectomy for resectable colon cancer. She has a past medical history of hypertension, angina on exertion, and diabetes mellitus. She is independently mobile, does her own shopping, and has a 30-pack-a-year history of smoking. The operation was uncomplicated. On day 5 post-surgery, she becomes confused. On examination, she has a Glasgow Coma Scale score of 14/15. She has a temperature of 101.3°F (38.5°C), a respiratory rate of 28 breaths/minute, and oxygen saturations of 92% on 2 L of oxygen per minute. She is tachycardic at 118 bpm, and her blood pressure is 110/65 mmHg. On chest auscultation, she has coarse crackles in the right lower chest. Her surgical wound appears to be healing well and her abdomen is soft and not tender.

Sepsis in children

A previously well 1-year-old girl presents to the emergency department with a history of lethargy and fever for 24 hours. She recently had symptoms suggestive of a viral upper respiratory tract infection. Her parents report that for a few hours prior to presentation she had become drowsy and difficult to rouse. They also report that they had noticed a rash developing on her trunk and limbs shortly before presentation. On initial assessment the following features are identified: reduced level of consciousness (response to painful stimulus only); tachycardia (heart rate 190 beats per minute); prolonged capillary refill time (>5 seconds peripherally); cold peripheries (core-toe temperature gap >18°F [>10°C]); fever (core temperature 102°F [39°C]); tachypnea (respiratory rate 40 beats per minute) and grunting on expiration; and a widespread, nonblanching, purpuric rash on the trunk and limbs.

Neurofibromatosis type 1

A male infant is found to have multiple café au lait spots at his routine 6-month pediatric follow-up visit. The physician refers the patient to a dermatologist, who concurs with the tentative diagnosis and refers the infant to the nearest university-based specialty clinic. There, a general physical exam is otherwise unrevealing and an ophthalmologic exam is normal. A screening cranial MRI is performed, revealing an optic pathway glioma involving the proximal right optic nerve and optic chiasm, as well as multiple hyperintense T2-weighted signals in the periventricular white matter, globus pallidus, and cerebellum. Given an otherwise negative family history and the lack of findings on physical exam of both parents, the family is counseled that a new NF1 mutation is likely. The optic pathway glioma will be followed by ophthalmologic exams and neuroimaging. Common Vignette 2 A 26-year-old woman presents with multiple sessile fleshy skin lesions. She has been aware of multiple café au lait spots since early childhood, although she ignored them as they were deemed to be birthmarks. The truncal skin lumps that led to her presentation began to appear (or become prominent) during the early second trimester of her recent pregnancy, at the end of which she delivered a female infant with multiple light brown birthmarks. Physical exam of the woman shows café au lait spots, bilateral axillary freckling, and multiple cutaneous neurofibromas over the trunk and proximal limbs. She has no neurologic abnormalities. A slit-lamp ophthalmologic exam reveals multiple iris Lisch nodules bilaterally.

Diabetic neuropathy

A middle-aged man with type 2 diabetes presents with shooting and burning pain in his feet and lower legs, most severe at night, associated with numbness and allodynia (pain from stimuli that are not normally painful). In the past 6 months, the pain has become much worse and disturbs his sleep. He has been told that his blood glucose is borderline elevated and has been advised to start diet and exercise. He also takes a medication for hypertension and recalls that his cholesterol is elevated. A 54-year-old woman with type 1 diabetes has developed an ulcer on her right foot. She cannot recall any particular injury and has been walking as normal with no pain. Physical examination of the foot reveals a painless ulcer over the metatarsal head. She also complains of feeling tired and has noticed she is particularly dizzy and unsteady on her feet when she stands up. Blood pressure (BP) measurements in the supine position, repeated after 2 minutes of standing, reveal an abnormal fall in systolic BP, from supine to standing position, of 32 mmHg.

trigeminal neuralgia

A middle-aged woman presents with a complaint of frequent (once or twice daily for 3 weeks), brief (lasting several seconds) episodes of intense, sharp left-sided jaw pain. She has experienced these attacks for several years, but they had previously been relatively rare (1 episode daily for several consecutive days followed by months with no attacks). She says that episodes are sometimes brought on by eating but can occur without an apparent stimulus. The patient states that even though the pain is brief, she lives in fear of repeat flares.

Kawasaki disease

A previously healthy 1-year-old girl was admitted to a children's hospital with a 7-day history of spiking fever up to 103°F (39.5°C). Three days after the onset of fever she developed left-sided neck swelling and diaper rash, and became progressively fussy and irritable. She was seen at an emergency department, diagnosed with cervical adenitis, and sent home on oral antibiotics. The mother noted continued irritability, high fever, and decreased oral intake. On subsequent admission she was extremely irritable, with a temperature of 102°F (38.9°C), heart rate of 140 beats per minute, respiratory rate of 40 breaths per minute, and blood pressure 110/54 mmHg. There were no signs of nuchal rigidity. Both palpebral and bulbar conjunctivae were deep red and injected, lips were dry and crusted, the oropharynx hyperemic with some areas of ulcerated mucosa, and the tongue papillae were enlarged and red (strawberry appearance). Examination of the neck revealed a mildly tender left unilateral mass, measuring 4 cm. The skin showed a generalized polymorphous, erythematous, macular, blanching rash, in addition to severely red and desquamated perineal region. Her extremities, especially palms and soles, were swollen, red, and mildly tender.

Hemophilia

An 18-month-old boy presents with left ankle swelling and pain. He has limited range of motion at the ankle and has difficulty walking. Over the last year, he has presented with significant hematomas at immunization sites. He also had prolonged bleeding after heel stick for neonatal screening tests A 6-year-old boy presents with prolonged bleeding after trauma to the oral cavity.

Pelvic inflammatory disease

An 18-year-old female college student with a history of prior chlamydia infection presents with low-grade fever and nonspecific lower abdominal pain. Examination reveals mild diffuse lower abdominal tenderness on deep palpation. She has cervical motion tenderness and a mucopurulent vaginal discharge on pelvic examination.

Thalassemia Beta

An 8-month-old boy of Mediterranean origin presents with pallor and abdominal distension, both of which are progressive. The perinatal history was uneventful, and the boy is noted to be pale, with poor feeding, decreased activity, and failure to thrive. Hepatosplenomegaly and mild bony abnormalities of the skull are noted (frontal and parietal bossing).

Pericarditis

An otherwise healthy 30-year-old man presents with a several-day history of progressive, severe, retrosternal chest pain that is sharp and pleuritic in nature. The pain is worse on lying down and improved with sitting forward. There is radiation to the neck and shoulders and specifically to the trapezius muscle ridges. The pain is constant and unrelated to exertion. On physical exam, a pericardial friction rub is heard at end-expiration with the patient leaning forward

DM Type 2

An overweight 55-year-old woman presents for preventive care. She notes that her mother died of diabetes, but reports no polyuria, polydipsia, or weight loss. BP is 144/92 mmHg, fasting blood glucose 148 mg/dL, HbA1c 8.1%, LDL-cholesterol 200 mg/dL, HDL-cholesterol 30 mg/dL, and triglycerides 252 mg/dL

Toxic multi nodular goiter

At a routine checkup, a 70-year-old woman has an irregularly irregular pulse of 88 bpm and BP of 150/60 mmHg. Neck examination reveals an enlarged thyroid (approximately 30 g) with irregular, bumpy texture. There is no substernal extension, lymphadenopathy, or bruit. The remainder of the examination is unremarkable except for a I-II/VI systolic murmur at the left sternal border and minimal tremor of the outstretched hands. The patient denies heat intolerance or nervousness, but says she has lost a few pounds over the past year. There is no history of head and neck irradiation. Her aunt had a goiter. Other Presentations Occasional presenting symptoms are hoarseness, dysphagia, dyspnea, cough, or a choking sensation caused by neck compression. However, in most patients these symptoms are not caused by apparent thyroid disease, and other etiologies such as esophageal disorders, heart disease, or pulmonary disorders should be excluded

Primary hyperparathyroidism

At a routine exam, a 55-year-old woman is discovered to have hypercalcemia. Follow-up laboratory tests show synchronously elevated serum calcium and intact parathyroid hormone, with low phosphorus and mildly elevated alkaline phosphatase. 25-hydroxyvitamin D is in the low normal range. Past medical history is significant for hypertension and coronary artery disease. Review of symptoms includes complaints of fatigue, feeling achy, and vague depression and mental fatigue. The patient has a history of nephrolithiasis and newly detected osteopenia. Family history is negative for renal stones or calcium disorders.

growth hormone deficiency

Parents of a 5-year-old boy have been increasingly worried about his height for the past 18 months. His height is well below the 0.4th centile (98 cm). His weight is on the 9th centile and midparental height is on the 50th centile. He has a small face with frontal bossing and a lot of fat around his belly. His height at 4.2 years was 95 cm and at 3.6 years was 93 cm, giving him a growth velocity that is suboptimal at 5 cm over 1.6 years. His 2 brothers are both of an "average height." A 10-year-old girl presents with headaches and poor vision. At 9 years of age, an urgent MRI scan of her brain revealed a suprasellar solid/cystic mass diagnosed as a craniopharyngioma. She was treated with surgery and cranial irradiation. Her pituitary evaluation 3 months later revealed a peak GH concentration (after glucagon provocation) of 0.3 micrograms/L, a peak serum cortisol concentration of 3 micrograms/dL, a peak TSH concentration (after TRH stimulation) of 2.3 mU/L with a peak free T4 of 0.57 nanograms/dL, and a peak serum prolactin of 16 nanograms/mL. Her peak serum gonadotropin concentrations (after LHRH stimulation) were 2.6 international units/L (FSH) and 1.9 international units/L (LH). A diagnosis of GHD with combined pituitary hormone deficiencies was made.