Clinical Presentations
A 37-year-old HIV-positive man is hospitalized for confusion and sleep disturbances. He is a known IV drug abuser. Physical examination reveals yellow sclerae, abdominal distension with fluid wave, and ankle edema. Jerky, involuntary hand movements are also present
Hepatic Encephalopathy
Tetrad of symptoms present in Kartagener Syndrome
1. Situs inversus 2. Chronic sinusitis 3. Bronchiectasis 4. Infertility
A 45 year old woman has a 2 week history of a heart murmur and hepatomegaly. She has a 3 month history of flushing with hypotension and crampy diarrhea.
Carcinoid syndrome and Carcinoid tumor; primary neoplasm in small intestine
Progressive fibrosis of the superficial palmar fascia due to excessive fibroblast proliferation. Pathognomonic fibrotic nodules and cords form along the flexor tendons, limiting extension of the affected digits.
Dupuytren contracture
What is the most common cause of clubbing?
Lung adenocarcinoma
____________ is characterized by tinnitus (ringing in ear), vertigo, and sensorineural hearing loss.
Ménière disease
Patients commonly develop bilateral cranial nerve VIII schwannomas and multiple meningiomas.
Neurofibromatosis type 2 (autosomal dominant nervous system tumor syndrome)
Autopsy reveals multiple small, nondestructive masses attached to the edges of the mitral valve leaflets. Microscopy shows that these masses are composed of platelet-rich thrombi, but no organisms are present.
Nonbacterial thrombotic endocarditis
An 18-year-old man comes to the office due to 2 days of right testicular pain. The pain is constant and exacerbated by movement. Vital signs are within normal limits. On physical examination, there is swelling and tenderness to palpation localized only to the posterior and superior areas of the right testis. The left testis is normal. Cremasteric reflexes are intact bilaterally. Urinalysis shows numerous leukocytes but no bacteria.
Acute epididymitis
A 45 year old woman is brought to the emergency department because of the sudden onset of severe abdominal pain. Examination shows an irregularly irregular pulse, a grade 3/6, apical diastolic murmur, and an opening snap. An x-ray of the abdomen shows distention of the small intestine, the ascending colon, and a portion of the transverse colon.
Acute mesenteric ischemia
A 35-year-old woman, gravida 1 para 0, at 40 weeks gestation has a protracted labor course for which a cesarean delivery is performed under epidural anesthesia. Shortly after delivery, the patient has chest pain and difficulty breathing. She becomes hypotensive, bradycardic, hypoxic, and unresponsive, and undergoes emergency intubation. The surgical incisions begin to bleed profusely and the patient goes into cardiorespiratory arrest. She is declared dead after 30 minutes of cardiopulmonary resuscitation. The family agrees to an autopsy. Which of the following is the most likely finding during histologic evaluation of her lung
Amniotic fluid embolism
The patient is tachypneic and unable to speak in full sentences. Examination reveals prolonged expiration and prominent bilateral wheezing. Heart sounds are normal. Chest imaging shows a normal-sized heart and hyperinflated lungs with a flattened diaphragm. Bedside echocardiogram reveals no intrapericardial fluid accumulation or pericardial thickening.
Asthma or COPD (obstructive pulmonary disease)
It is an important cause of respiratory illness in preterm newborns that results in significant morbidity and mortality. The etiology is multifactorial and is due to exposure of antenatal and postnatal factors that cause the arrest of pulmonary development, and potentially, inflammation and damage to the highly vulnerable premature lung. These factors include mechanical ventilation, oxygen toxicity, infection, inflammation, and possibly genetic predisposition and late surfactant deficiency.
Bronchopulmonary dysplasia (BPD) (also known as neonatal chronic lung disease (CLD) Biopsy of the lung shows prominent interstitial fibrosis surrounding regular dilated air spaces with bronchiolar metaplasia.
Features include frontal bossing, facial bone malformations, supernumerary teeth, and absent or diminutive clavicles
Cleidocranial dysplasia CBFA1 gene mutation; impaired osteoblast differentiation
A 65-year-old woman was found dead in her house. The family notes that she had difficulty walking over the past few months. The patient had a history of atrial fibrillation treated with anticoagulation therapy. Gross examination shows bruising of the scalp. Autopsy reveals a large epidural hemorrhage with brain herniation; spinal cord evaluation reveals symmetric myelin layer vacuolization and axonal degeneration involving the posterior columns and the lateral corticospinal tracts.
Vit. B12 deficiency
A man comes to the physician because of a 6 month history of burning abdominal pain that occurs 1-2 hours after he eats. He also has had black stools for 2 days. Use of over-the counter antacids and histamine-2 receptor blocking agents has not bee effective in relieving his symptom. He is sweating profusely and has light-headedness when he stands. His blood pressure is 105/70 while sitting. PE shows epigastric tenderness. A CT scan of the abdomen shows a 1-cm mass in the pancreas. Immunohistochemical labeling of neoplastic cells in a biopsy specimen is most likely to involve the use of abs directed to gastrin.
Zollinger-Ellison Syndrome (ZES)
Langerhans cells are __________ cells that arise from bone marrow and migrate to skin and lymphoid tissue
dendritic
features of gastric outlet obstruction including feeding intolerance, bilious vomiting, and abdominal distension
Annular pancreas Annular pancreas (AP) is a rare congenital abnormality resulting from the failure of the ventral portion of the pancreas to rotate with the duodenum. This leads to a ring of pancreatic tissue enveloping the descending portion of the duodenum presenting typically with features of gastric outlet obstruction including feeding intolerance, bilious vomiting, and abdominal distension.
A 4-year-old Caucasian boy is evaluated for difficulty walking. Past medical history includes frequent respiratory infections. Cultured cells from this patient demonstrate a high rate of radiation-induced genetic mutation.
Ataxia Telangiectasia
A 55 year old man has a cough, hemoptysis, and dyspnea. He has smoked 2 packs of cigarettes daily for the past 30 years. Examination shows bilateral conjunctival edema, distention of sublingual veins, and edema of the upper extremities.
Superior Vena Cava (SVC) Syndrome -caused by obstruction of the SVC an subsequent venous congestion of the head, neck, and upper extremities
A 26-year-old man comes to the office due to a scrotal mass. He first noticed a painless mass in the scrotum 4 weeks ago while in the shower and thinks it may be getting larger. The patient has no history of abdominal or genital trauma. On examination, he has a left-sided scrotal mass that is palpable when he stands but disappears when he lies down. Light does not shine through the mass when a penlight is held behind it. Which of the following is the most likely diagnosis?
Varicocele Varicoceles are dilations of the spermatic vein pampiniform plexus that are common in adults. They tend to arise on the left side as the left gonadal vein is one of the longest veins in the body and drains into the left renal vein at a perpendicular angle. The pressure within the left renal vein is also higher due to compression between the aorta and the superior mesenteric artery ("nutcracker effect"). This increased pressure in the left gonadal vein results in valve leaflet failure and retrograde blood flow toward the testis on standing.When the patient is recumbent, much of the blood returns to systemic circulation and the varicocele diminishes in size.
A 15-year-old boy comes to the office due to right ear itching and discomfort for the past several days. He has no fever or hearing loss but has noted scant drainage of thin, whitish fluid. The patient has been taking swimming lessons at a local gym. On examination, there is no redness around the ear, but gentle traction of the pinna elicits pain. During inspection of the external auditory canal, a speculum is inserted into the meatus in close contact with its posterior wall, causing the patient to suddenly become lightheaded and faint. He recovers spontaneously within a few minutes with no residual confusion.
Vasovagal syncope irritation of vagus nerve
In Weber syndrome, a stroke of the paramedian branches of the posterior cerebral artery affect the cerebral peduncle containing the corticospinal tract and the neighboring oculomotor nerve. Patients typically present with _______ oculomotor nerve palsy (eg diplopia, ptosis, primary gaze palsy, pupillary constriction deficits) and _____ hemiparesis with an upper motor neuron pattern of dysfunction.
ipsilateral; contralateral
This young adult has a history of recurrent epistaxis, cutaneous telangiectasias, and signs of pulmonary vascular disease; leads to multiorgan AVMs (arteriovenous malformations); pulmonary arteriovenous shunting can result in chronic hypoxemia. causes clubbing and cyanosis
hereditary hemorrhagic telangiectasia (HHT) (Rendu-Osler-Weber syndrome)
Chronic cough, SOB, and pleural effusion plus a calcified pleural plaque (thick, firm, white pleural tumor that ensheathes lung) on x-ray
malignant mesothelioma
A 30-year-old woman comes to the emergency department with sudden-onset abdominal pain and ascites. Laboratory studies show anemia, reticulocytosis, leukopenia, and thrombocytopenia. Flow cytometry of the patient's peripheral blood cells using the appropriate monoclonal antibodies shows CD55 and CD59 deficiency. CT scan of the abdomen shows hepatic vein thrombosis
paroxysmal nocturnal hemoglobinuria (PNH)
The oculomotor nerve (CN III) is most susceptible to injury from ipsilateral _______________ artery aneurysms.
posterior communicating
Bitemporal hemianopsia, amenorrhea, and enlargement of the pituitary gland on brain imaging are suggestive of a?
prolactin-secreting pituitary adenoma
This patient's shortness of breath—accompanied by abdominal distension (ascites), hepatomegaly, jugular venous distension, and lower extremity edema—is consistent with:
right-sided heart failure
A 52-year-old man comes to the physician complaining of dizziness, headaches, and pruritus after showering. He has smoked half a pack of cigarettes daily for the past fifteen years and drinks alcohol socially. Physical examination shows a reddish facial complexion and mild splenomegaly
Polycythemia Vera
A 43-year-old man is hospitalized with recent-onset oliguria and a high serum creatinine level. He has been seen in clinic several times for an intranasal ulcer that has failed to heal.
Wegner Granulomatosis
Characterized by neurofibromas, optic nerve gliomas, Lisch nodules (pigmented nodules of the iris), and café au lait spots (hyperpigmented cutaneous macules)
-Neurofibromatosis type 1 (von Recklinghausen's disease) -autosomal dominant disorder
An 80-year-old man is brought to the hospital due to increasing chest pain. Over the past 6 weeks, he has had dry cough, dysphagia, and a change in voice quality. The patient has a long history of hypertension. He is an ex-smoker with a 35-pack-year history. On physical examination, the patient appears anxious, pale, and diaphoretic. Blood pressure is 80/60 mm Hg, pulse is 120/min, and respirations are 20/min. While being evaluated in the emergency department, he develops cardiac arrest with pulseless electrical activity and cannot be resuscitated.
Thoracic aortic aneurysm
A patient with pancreatitis and subsequent respiratory failure
Acute Respiratory Distress Syndrome (ARDS)
An 8-year-old boy is brought to the office for rapid and irregular movements of his hands for one week. His parents say that he is also making unintentional "funny faces" and has trouble controlling the volume of his voice. His temperature is 38.9 C (102 F). On physical examination, the boy moves his hands frequently and erratically. He has a new III/VI systolic murmur and several circular, faintly erythematous lesions on his abdomen.
Acute Rheumatic Fever
A 4-week-old boy is brought to the office for a routine well-baby visit. The boy has been exclusively breastfeeding every 2-3 hours and is making 6 or 7 wet diapers a day. His urine has appeared dark yellow, and he has had a few pale-colored stools. His parents also noticed that his skin has appeared yellow for the past 2 weeks, but they were not concerned as they heard from friends that yellow skin is common with breastfeeding. The patient was born full term without complications by vaginal delivery to a primigravida. On physical examination, he is well-appearing with icteric sclerae and jaundice of the head and upper chest. Abdominal examination reveals a mildly enlarged and firm liver.
Biliary atresia
A 52-year-old woman comes to the emergency department with pain and redness affecting her left leg. The patient's symptoms began 2 days ago and have progressed to the point where she cannot walk without experiencing severe pain. Physical examination shows a large, erythematous area with indistinct margins over her left leg. The area feels hot and indurated and is exquisitely tender. She is admitted to the hospital for severe left leg cellulitis and is started on intravenous cefazolin. Several minutes after the infusion is started, she experiences shortness of breath, diffuse itching, and dizziness. Her blood pressure is 64/38 mm Hg and heart rate is 130/min. On examination, there is a diffuse erythematous skin rash and bilateral wheezing is heard on lung auscultation.
Anaphylaxis
A 32-year-old African American male is diagnosed with acute prostatitis. He has no significant past medical history. He begins treatment with trimethoprim-sulfamethoxazole, but subsequently develops dark urine and anemia with a high reticulocyte count.
G6PD deficiency -Hemolytic anemia due to oxidative stress (infection, sulfa drugs, fava beans)
A 42-year-old man comes to the emergency department due to severe chest pain that started abruptly 2 hours ago. The pain is midline, constant, and 10/10 in intensity. He has had no fever, cough, or shortness of breath. His only medical condition is hypertension. On examination, the patient is diaphoretic and is in severe distress due to pain. Temperature is 37 C (98.6 F), pulse is 116/min, and respirations are 24/min. Systolic blood pressure is 82 mm Hg in the right arm and 60 mm Hg in the left arm. Jugular veins are distended with an estimated pressure of 13 cm H2O. The lungs are clear to auscultation. The point of maximal impulse is not palpable. The extremities are cold with no peripheral edema. The patient develops cardiac arrest and dies soon after arrival
Aortic dissection complicated by cardiac tamponade
______________ are usually asymptomatic until they grow large enough to compress surrounding structures or cause rupture. The most common symptomatic presentation is chest or back pain, but compression of nearby structures can cause dysphagia, hoarseness, cough, or dyspnea.
Thoracic aortic aneurysms
Clinical features: Cough, dyspnea, and foul-smelling sputum Complications include hypoxemia with cor pulmonale and secondary amyloidosis (AA)
Bronchiectasis
A 68 year old woman comes to the physician because of a 1 year history of severe abdominal pain after meals; she also has had unintentional 9 kg (20 Ib) weight loss during this period. The pain is relieved when she decreases the amount of food that she eats. She has a history of atherosclerosis and underwent triple coronary artery bypass grafting 2 years ago. Physical examination shows a soft, nontender abdomen and an abdominal bruit. Pedal pulses are diminished.
Chronic mesenteric ishemia -caused by chronic atherosclerotic disease (SMA most affected)
Physical examination reveals atrophic nasal mucosa and a thinned nasal septum with a small septal perforation.
Cocaine abuse
A 57-year-old man is hospitalized for aspiration pneumonia. The patient was healthy and worked as an engineer without difficulty until about 4 months ago. Since that time, he has developed severe confusion, mood changes, and memory impairment and had to take medical leave from work. The patient is now completely dependent on his wife for toileting, feeding, and general self-care. Physical examination shows disorientation and sporadic, jerky extremity movements. During hospitalization, the patient lapses into a coma and dies. Postmortem examination of his brain shows widespread atrophy of the cerebral cortex and cerebellum.
Creutzfeldt-Jakob disease
A 29-year-old woman comes to the hospital due to fever and skin rash. She returned from a trip to Brazil 10 days ago. Her symptoms started 5 days ago with a headache, retro-orbital pain, high-grade fever, and joint and muscle pains. She has also had an episode of epistaxis. Today, she noticed a skin rash all over her body. Examination shows a diffuse maculopapular rash and scattered petechiae. Laboratory study results show thrombocytopenia. Her boyfriend traveled to Brazil with her and is asymptomatic
Dengue fever
A 48-year-old previously healthy woman comes to the office due to progressively worsening muscle weakness for the past 2 months. The patient has difficulty with activities such as climbing stairs, getting up from chairs, and placing dishes in overhead cabinets. She also reports a 4.5-kg (10-lb) unintentional weight loss and occasional abdominal discomfort over the same interval. Physical examination shows weakness of the shoulder and hip girdle muscles. She has red papules on knuckles
Dermatomyositis
A boy is admitted to the neonatal intensive care unit shortly after being born to a 28-year-old woman who had poor prenatal care. His temperature is 37.2 C (99 F), blood pressure is 70/30 mm Hg, pulse is 128/min, and respirations are 40/min. Pulse oximetry shows 85% on room air. Physical examination is significant for orbital hypertelorism, a submucous cleft palate, and bifid uvula. An echocardiogram reveals right ventricular hypertrophy, pulmonary stenosis with ventricular septal defect, and overriding aorta. The patient's diagnosis is eventually confirmed by fluorescence in situ hybridization.
DiGeorge Syndrome
A 1-week-old boy is brought to the emergency department with poor feeding, lethargy, and unusual "muscle movements" involving the left thumb and hand over the last 2 days. The patient's mother had appropriate prenatal care, a normal pregnancy, and took no medications other than prenatal vitamins. The infant's vital signs are normal, but unusual flexion of the left wrist and thumb and extension of the fingers are observed with cuff blood pressure measurement. Physical examination reveals a hypoplastic mandible, low-set ears, bifid uvula, and cleft palate. A chest x-ray reveals decreased soft-tissue attenuation in the right anterior mediastinum. These findings most likely suggest impaired development of which of the following embryonic structures?
DiGeorge Syndrome The hypocalcemia in DGS leads to increased neuromuscular excitability, which manifests as tetany, carpopedal spasms, or seizures. Tapping on the facial nerve usually elicits twitching of the nose and lips (Chvostek sign), and inflation of the blood pressure cuff leads to carpal spasm (Trousseau sign).
A 26-year-old man is brought to the emergency department after a high-speed motorcycle collision. The patient was thrown several feet after his motorcycle collided with a car. On arrival, he is profoundly comatose. A CT scan of the head performed within an hour of the event shows no abnormalities. The patient dies several hours later, and autopsy examination is performed. Brain histopathology shows widespread axonal swelling, predominantly at the gray-white junction. Immunohistochemical staining of these axons reveals accumulation of alpha-synuclein and amyloid precursor proteins.
Diffuse Axonal Injury (sheering of the white matter tracts)
Classic findings include a flat facial profile, upslanting palpebral fissures, low-set small ears, single transverse palmar crease, and hypotonia
Down Syndrome
A 55-year-old woman comes to the emergency department with nausea, fever, fatigue, and anorexia. She returned a week ago from a trip to Mexico, where she underwent an emergency cholecystectomy without complications. Her temperature is 38.3 C (101 F), blood pressure is 100/60 mm Hg, pulse is 90/min, and respirations are 12/min. The patient is alert and answers questions but appears extremely weak and slightly icteric. She has no other medical problems and takes no medications. She does not use tobacco, alcohol, or illicit drugs. The patient is admitted to the hospital, but her condition worsens and she dies 2 days later. Postmortem viral serologies are negative. Gross examination of the liver on autopsy is shown in the image below.
Drug induced liver injury (Halothane)
A 26-year-old woman comes to the emergency department for pelvic pain and vaginal bleeding over the past 2 days. Today, the pain has increased, but she has had no nausea, vomiting, or orthostasis. The patient was treated for chlamydia cervicitis 3 years ago. She takes no medications and has no known drug allergies. On pelvic examination, the uterus is small and mobile and there is left adnexal tenderness. Pelvic ultrasound reveals a complex, 2-cm left adnexal mass with a gestational sac and yolk sac; there is no intrauterine pregnancy or free fluid.
Ectopic pregnancy
A 60-year-old man comes to the clinic due to a 3-week history of fatigue, shortness of breath, and fever. The patient has a 35-pack-year history of cigarette smoking but has no other significant medical history. Temperature is 38.6 C (101.5 F), blood pressure is 140/92 mm Hg, pulse is 110/min, and respirations are 24/min. There is dullness to percussion at the right lung base. Chest radiograph shows a moderate-sized loculated pleural effusion on the right side. Ultrasonography reveals multiple separate fluid pockets within the pleural space. Chest tube placement produces only a small amount of thick pus
Empyema This patient's several weeks of fever, shortness of breath, and fatigue with imaging showing a loculated pleural effusion with complex septations represents a classic presentation of empyema. Empyema is an advanced form of complicated parapneumonic effusion in which bacterial invasion into the pleural space is followed by progressive inflammation with pus accumulation and organized fibrosis. Treatment requires prompt drainage of the infected fluid via a chest tube, but such effusions are often difficult to drain due to numerous loculations (ie, separated fluid pockets) and high fluid viscosity.
A 10-year-old boy is brought to the hospital for difficulty swallowing. During dinner a few hours ago, a piece of chicken became stuck in the patient's mid-chest region. His parents say that he has previously had the sensation of food becoming stuck, but it has never lasted this long. The patient has vomited multiple times, but the chicken has not dislodged. Medical history is significant for eczema. He is drooling and visibly uncomfortable. An upper endoscopy is performed to remove the chicken from the esophagus, which exhibits multiple stacked, circular, ringlike indentations; linear furrowing; and scattered, small, whitish papules.
Eosinophilic esophagitis It occurs most commonly in males with a history of atopic conditions and typically presents with solid food dysphagia, reflux, and occasionally food impaction. Classic endoscopic findings include stacked, circular, ringlike indentations; linear furrowing; and scattered, small, whitish papules (ie, eosinophilic microabscesses).
A 53-year-old man with nocturnal cough undergoes an upper endoscopy with esophageal biopsy. Light microscopy of the tissue specimen shows elongation of the lamina propria papillae with several eosinophils and neutrophils scattered within the squamous epithelium. The patient takes metformin and enalapril for diabetes mellitus and hypertension, respectively. He is started on pantoprazole, and after 2 weeks his cough symptoms resolve.
GERD Gastroesophageal reflux disease (GERD) is a very common condition that usually manifests with heartburn, regurgitation, and dysphagia. However, patients can have extraesophageal symptoms (eg, nocturnal cough, hoarseness) in the absence of heartburn ("silent GERD"). Gastroesophageal junction incompetence is the primary pathophysiologic mechanism responsible for GERD. This incompetence is most commonly caused by excessive relaxation of the lower esophageal sphincter, resulting in the reflux of acidic gastric contents back into the esophagus.
A 9-year-old girl is brought to the emergency department following a 3-minute generalized seizure. She has had a fever with a worsening headache for 3 days. The girl has no medical problems and is not taking any medications. She lives with her parents and pet cat and has traveled to Canada and England. On physical examination, she is disoriented and has difficulty staying awake. Her speech is difficult to understand due to inappropriate word choice. She is admitted to the intensive care unit for further workup. The patient becomes unresponsive the following day and dies overnight. Autopsy reveals bilateral, hemorrhagic necrosis of the inferior and medial temporal lobes.
HSV Encephalitis
A previously healthy 2-year-old boy is brought to the clinic with fever and mouth pain that began yesterday. He has consumed an adequate amount of fluids but refuses to eat due to the pain. The patient has no medical problems and takes no medications. Physical examination reveals swollen gums and vesicular, inflamed lesions on his hard palate and lips. He has enlarged and tender cervical lymph nodes.
HSV-1 infection
Endoneurial inflammatory infiltration of the peripheral nerves is characteristic of __________
Guillain-Barré syndrome
A 48-year-old woman comes to the office due to a sore throat for the past 3 months. On examination, she is found to have an enlarged, ulcerated left tonsil and a firm, nontender, nonmobile left neck mass. The patient undergoes biopsy of the tonsil. Pathology is consistent with squamous cell carcinoma. Further analysis of the biopsy specimen shows expression of viral genome proteins. Which of the following most likely predisposed the patient to the development of this malignancy?
HPV
A 45 year old man is admitted to the hospital because of CHF. 2 first-degree relatives died in their 40s with dilated cardiomyopathy and cirrhosis. Physical examination shows cardiac enlargement and generalized hyperpigmentation. His serum glucose concentration is 320 mg/dL.
Hemochromatosis
An 81 year old woman is admitted to the hospital because of a massive pulmonary embolism from a DVT. Her platelet count is 160,000 mm. Appropriate pharmacotheraoy is started. One week later, her platelet count is 55,000 mm.
Heparin-induced thrombocytopenia (HIT)
A 45-year-old man comes to the office due to fatigue, lack of sexual desire, and inability to maintain an erection. A year ago, he was advised to lose weight with diet and exercise due to mildly elevated fasting glucose levels. The patient has smoked a pack of cigarettes daily for the past 20 years and drinks an alcoholic beverage 3-4 times per month. Blood pressure is 110/70 mm Hg and pulse is 65/min. Oxygen saturation is 99% on room air. BMI is 29 kg/m2. Skin examination shows increased pigmentation over the knuckles and face. The liver is palpable 3-4 cm below the right costal margin. The remainder of the examination reveals small testes
Hereditary Hemochromatosis
A 9-year-old girl is brought to the office due to persistent nasal drainage. Over the past 2 weeks, the patient has had increasing nasal congestion and drainage. The discharge was initially clear but has become dark and foul smelling over the past few days. The patient has a history of multiple skin abscesses that developed when she was an infant, but they typically do not cause discomfort. She has also had atopic dermatitis since infancy. Temperature is 37.1 C (98.8 F). On examination, the patient is interactive and talkative. Thick nasal discharge appears from both nares. Cardiopulmonary examination is normal. There are several diffuse areas of dry, excoriated skin along the trunk and upper extremities.
Hyper IgE syndrome
A 30-year-old Caucasian male presents to your office with fatigue, muscle weakness and occasional headaches. His blood pressure is 180/110 mmHg and his heart rate is 80/min. Laboratory evaluation reveals low serum potassium, severely depressed plasma renin activity, and a CT scan demonstrates a right-sided adrenal mass. After treatment for several weeks, the patient's symptoms resolve, his blood pressure is decreased to 130/70 mmHg and his heart rate is 75/min
Hyperaldosteronism (Conn's Syndrome This patient is suffering from an aldosterone secreting tumor (adenoma) leading to primary hyperaldosteronism (Conn's Syndrome). Presenting signs of hyperaldosteronism most commonly include hypertension, hypokalemia, metabolic alkalosis and decreased plasma renin activity.
marked by autoimmune enteritis (eg, lymphocytic infiltrate, villous atrophy, chronic diarrhea), eczematous dermatitis, and type 1 diabetes in infancy.
IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, and X-linked transmission) FOXP3 mutation
A 62-year-old man comes to the clinic due to a 6-month history of progressive exertional dyspnea. The patient has an occasional cough but has no palpitations, orthopnea, chest pain, or lower extremity swelling. Past medical history is insignificant. He works as an attorney, does not use tobacco, and drinks alcohol only on social occasions. His symptoms continue to progress, and the patient dies of respiratory failure 3 years after the initial clinic visit. Autopsy findings include heterogenous lung parenchyma with predominantly subpleural areas of dense collagen deposition, lymphocyte infiltration, and fibroblast proliferation intermixed with areas of normal lung tissue. Which of the following is the most likely diagnosis?
Idiopathic pulmonary fibrosis
A 32-year-old man comes to the office due to progressive dyspnea, dizziness, and chest discomfort. He has no prior medical problems but had a mild respiratory illness 2 weeks earlier that resolved spontaneously. His father has a history of myocardial infarction. Echocardiogram shows pericardial fluid accumulation with late diastolic collapse of the right atrium
This patient has a pericardial effusion with associated cardiac tamponade. Classic signs of cardiac tamponade include hypotension, elevated jugular venous pressure, and muffled heart sounds (Beck triad).
A 36-year-old woman is brought to the emergency department with sudden-onset right side weakness and speech difficulty. During the last 3 weeks, the patient has experienced progressive fatigue, malaise, and low-grade fevers. Despite the symptoms, she did not seek medical attention and did not take any medications. She had a dental extraction 5 weeks ago, which was uncomplicated. The patient has never previously been significantly ill or hospitalized. She works as a receptionist at a legal firm and has never traveled outside the United States. She does not use tobacco, alcohol, or illicit drugs. The patient is admitted to the hospital, but despite adequate resuscitative measures, she dies 2 hours later. Gross autopsy shows large, friable irregular masses attached to the atrial surface of a valve
Infective endocarditis
A 26-year-old woman comes to the office due to a 1-day history of nonproductive cough, severe myalgias, and malaise. She has no medical problems and does not smoke cigarettes. The patient has never traveled outside the United States. A work colleague recently had similar symptoms and had to stay home for several days. The patient's temperature is 38.4 C (101.1 F). On physical examination, she has no cervical lymphadenopathy, oropharyngeal erythema, tonsillar exudates, or lung crackles. Following a positive nasopharyngeal swab test result, the patient is started on a medication that is directed specifically against the causative agent, thereby minimizing the duration of symptoms.
Influenza This patient with fever, nonproductive cough, myalgias, clear lungs, and a sick contact at work likely has influenza.
A 64-year-old Caucasian male complains of crampy abdominal pain while passing stool over the last two days. He has also noticed some blood in his stool. He denies vomiting, fever or urinary symptoms. He experienced myocardial infarction six years ago. Physical examination reveals decreased bowel sounds. The right femoral and dorsalis pedis pulses are weak.
Ischemic colitis Ischemic colitis is a common cause of lower gastrointestinal hemorrhage in the elderly. Typically, patients present with crampy abdominal pain, tenderness to palpation, and bloody stool. The two primary mechanisms that produce ischemic colitis are hypoperfusion secondary to diminished cardiac output (as seen in cardiac disease or prolonged shock) and occlusion of the bowel vascular supply (as seen with atheroma, thrombosis, or embolism The weak lower extremity pulses in this patient indicate he likely has extensive atherosclerosis.
A 55-year-old farmer is brought to the emergency department after his daughter found him confused and disoriented in the tool shed at home. He has been otherwise healthy and does not take any medications. On physical examination, blood pressure is 110/70 mm Hg and pulse is 50/min. The patient's pupils are symmetric, 2 mm, and reactive to light. His eyes are tearing considerably. There are scattered wheezes bilaterally on lung auscultation. The patient's skin is clammy and he is sweating profusely
Organophosphates (pesticides)
Occurs months to years after radiation exposure and is characterized grossly by pigment changes, telangiectasias, and chronic ulceration. Typical histologic changes include vascular abnormalities, fibroblast proliferation, and homogenization of dermal collagen (ie, fibrosis) due to the increased expression of transforming growth factor-beta.
Late-stage radiation dermatitis
A 53-year-old man who has not seen a physician in years presents to your office complaining of abdominal distention. He states "Last month my stomach started to swell up and it hasn't gotten any better". He has no other medical problems. The patient admits to drinking 10-12 beers a day for the last 20 years. His temperature is 36.7 C (98 F), blood pressure is 116/72 mm Hg, pulse is 78/min and respirations are 20/min. On examination his abdomen is distended with engorged paraumbilical veins. There is also palmar erythema and multiple spider angiomas are present. You decided to place him on a low-salt diet and start therapy with furosemide and spironolactone, with subsequent improvement of his abdominal distention
Liver cirrhosis
A 22-year-old man is undergoing surgical repair of an inguinal hernia. Anesthesia is induced and an endotracheal tube is placed. He then develops severe spasm of the masseter muscles, and there is a dramatic increase in expired carbon dioxide measured from the endotracheal tube. His core body temperature begins to increase and is now 38.9 C (102 F)
Malignant hyperthermia
A 27-year-old man comes to the emergency department due to acute-onset chest pain and shortness of breath. The pain started suddenly an hour ago while he was lifting a box of books. The patient has no chronic medical conditions, and he was in his usual state of health prior to the onset of symptoms. He does not use tobacco, alcohol, or illicit drugs. Height is 182 cm (71.7 in) and weight is 72 kg (158.7 lb). On physical examination, the patient is in acute respiratory distress. Temperature is 37 C (98.6 F), blood pressure is 90/60 mm Hg, pulse is 120/min and regular, and respirations are 26/min. Pulse oximetry shows 86% saturation on room air. Cardiopulmonary examination reveals pectus excavatum, bilateral pulmonary crackles, and a decrescendo diastolic murmur at the right upper sternal border. The abdomen is soft and nontender. There is no peripheral edema
Marfan Syndrome leading to aortic dissection
triad of fibrous dysplasia (multiple osteolytic-appearing lesions of the hip and pelvis), endocrine abnormalities, and café-au-lait spots
McCune Albright syndrome
A 30-year-old man comes to the office with a neck lump. The patient is otherwise asymptomatic and discovered the nodule incidentally while showering. His medical history is significant for a recently diagnosed pheochromocytoma, which was successfully removed. The patient's father died of thyroid cancer in his 30s. An ultrasound reveals a hypoechoic 3-cm nodule in the right lobe of the thyroid gland. Fine-needle biopsy of the nodule is consistent with a subtype of thyroid cancer.
Medullary Thyroid Carcinoma
A 26-year-old woman is brought to the emergency department due to acute-onset diplopia. Medical history is significant for episodes of blurry vision involving her right eye that occurred 6 months and 2 years ago. These episodes were associated with deficits in color vision and pain made worse with eye movement. The patient recovered the majority of her visual acuity after a few months in both cases. On neurologic examination, she has a visual acuity of 20/20 OS and 20/40 OD, mild right optic disk atrophy, and a relative afferent pupillary defect in the right eye. There is slowed and impaired adduction of the left eye with right lateral gaze. Convergence testing shows normal adduction in both eyes
Multiple sclerosis
A 32-year-old woman comes to the office due to left eye pain that is accentuated by ocular movements. She also has periodic dimming of vision in the same eye. The patient has had several such episodes over the last month, most often after a hot shower or intense workout. A year ago, she had an episode of numbness and tingling in her left arm that resolved spontaneously. Neurologic examination shows a mild intention tremor and broad-based gait.
Multiple sclerosis
A 31-year-old man comes to the office due to difficulty chewing. He is not able to enjoy chewing gum as he used to, and has also intermittently experienced double vision when reading or watching television for long periods. The patient has no extremity weakness or sensory symptoms. He has no other medical problems and takes no medications. The patient does not use tobacco, alcohol, or illicit drugs. Vital signs are normal. Physical examination shows mild ptosis of the right eye. The pupils are equal and reactive to light. Muscle strength is 5/5 in all extremities. Deep tendon reflexes are 2+ and symmetric. Babinski sign is absent.
Myasthenia Gravis
An 82-year-old man is brought to the emergency department after multiple falls. He has had severe back pain over the last month, for which he has been taking over-the-counter pain medication without significant relief. Over the last week, the patient has noted weakness in his legs bilaterally, and his gait has become unstable. Medical history is significant for hypertension, hyperlipidemia, coronary artery disease, and gout. The patient has lost 6.8 kg (15 lb) in the last month due to poor appetite. Rectal examination reveals an enlarged, firm, nodular prostate.
Neoplastic cord compression This elderly patient with severe back pain developed lower extremity weakness and gait instability. In association with his weight loss and enlarged nodular prostate, this presentation is concerning for neoplastic cord compression. Spinal cord compression is a frequent complication of advanced malignancy, especially breast, lung, and prostate cancers. Neoplastic cord compression most commonly results from local extension of vertebral metastases (neoplastic cells) into the epidural space. The tumors can encase the thecal sac and cause venous obstruction, leading to vasogenic edema, cord ischemia, and infarction. Presenting symptoms depend on the level of cord involvement but typically include severe back pain (often worse at night) that progresses to include motor weakness and/or sensory deficits. Urinary and fecal retention or incontinence are common late-stage finding
Ophthalmic examination reveals reduced vision in her peripheral visual fields bilaterally and an elevated intraocular pressure
Open-angle glaucoma
A 68-year-old Caucasian woman comes to the emergency department due to several hours of severe upper back pain. The patient developed the pain after experiencing a sudden jolt while driving over a pothole. She has no previous history of back pain or major trauma and has not seen a doctor in many years. The patient is retired and lives a sedentary lifestyle. She drinks a glass of wine daily and eats a healthy, balanced diet. BMI is 18.4 kg/m2. On examination, there is point tenderness over the T10 vertebra. Neurologic examination is unremarkable. X-ray of the spine reveals a T10 compression fracture
Osteoporosis
A 65-year-old man comes to the office due to progressive weight loss, jaundice, and anorexia over the last 3 months. His urine has been dark and his stools have been pale. The patient has no prior medical conditions and takes no medications. He has smoked a pack of cigarettes a day for 40 years. He drinks 2 cups of coffee every day and 1 or 2 glasses of wine on most nights. He used illicit drugs for 2 years when he was in his teens but has used none since. The patient has a sedentary lifestyle and frequently consumes red and processed meats. Vital signs are within normal limits. BMI is 28 kg/m2. Physical examination shows scleral icterus. The chest is clear to auscultation and percussion. Abdominal examination shows an enlarged but nontender gallbladder. There is no ascites.
Pancreatic adenocarcinoma
___________ should be considered in any patient with painless obstructive jaundice (elevated bilirubin, dark urine, pale stools) and weight loss.
Pancreatic adenocarcinoma
A 25-year-old primigravida has a stillbirth at 18 weeks gestation. Her only symptom during pregnancy was pain in both knees and feet, which she attributed to pregnancy-related weight gain and being "on my feet all day" as an elementary school teacher. The pain lasted approximately a week and resolved without medication. The patient was taking prenatal vitamins daily, and her prenatal care was appropriate. Fetal autopsy shows pleural effusion, pulmonary hypoplasia, and ascites. Infection with which of the following is the most likely etiology of the stillbirth?
Parvovirus B infection Fetal infection with parvovirus can lead to interruption of erythropoiesis, causing profound anemia and congestive heart failure. Fetal congestive heart failure can cause pleural effusions, pericardial effusions, and ascites. The findings on fetal autopsy (pleural effusion with secondary pulmonary hypoplasia, and ascites) represent fetal hydrops. cause arthralgia with or without rash in adults
A 33-year-old man comes to the office due to episodic headaches for several months accompanied by sweating and feelings of anxiety that spontaneously resolve after 15-30 minutes. He has no other medical conditions and takes no medications. His brother recently had surgery to treat hyperparathyroidism. Blood pressure is 180/110 mm Hg, and pulse is 102/min. Laboratory results show normal serum electrolytes and renal function. CT scan of the abdomen reveals a mass in the right adrenal gland
Pheochromocytoma
Is due to sudden hemorrhage into the pituitary, usually in the setting of a preexisting pituitary adenoma. It usually presents with acute severe headache, ophthalmoplegia, and altered sensorium.
Pituitary apoplexy
Patients typically have daytime incontinence, obstructive symptoms (eg, weak stream), and recurrent urinary tract infections, and nocturnal enuresis as well.
Posterior urethral valves
A 56-year-old man is evaluated for dyspnea and chest discomfort. Medical history includes hypertension, type 2 diabetes mellitus, and chronic kidney disease. Temperature is 37.8 C (100 F), blood pressure is 160/90 mm Hg, pulse is 98/min, and respirations are 24/min. BMI is 31 kg/m2. The patient undergoes a 2-part nuclear medicine test. During the first part, he breathes in a radioactive tracer and a lung scan is performed. In the second part of the test, he is given an intravenous injection of a different radioactive material while breathing normal air, and the scan is repeated. When the images are compared, a large area of the lower right lung is not visualized in the second scan.
Pulmonary embolism Ventilation-perfusion (V/Q) scans use radiotracers to compare the ventilation and blood perfusion of each area of the lung. V/Q mismatch with perfusion defects are often indicative of a pulmonary embolism, which are most commonly caused by deep vein thrombosis in the lower extremities that embolizes to the pulmonary vasculature.
A 67-year-old man comes to the emergency department due to progressive shortness of breath and chest tightness. He has had no lightheadedness or syncope. The patient takes lisinopril for hypertension and metformin for type 2 diabetes mellitus. He has smoked a pack of cigarettes daily for the last 40 years. The blood pressure cuff is inflated to 140 mm Hg and the pressure is released very slowly. At 120 mm Hg, intermittent Korotkoff sounds are heard only during expiration.At 100 mm Hg, Korotkoff sounds are heard throughout the respiratory cycle.
Pulsus paradoxus refers to an exaggerated drop (>10 mm Hg) in systolic blood pressure during inspiration. Seen with cardiac tamponade, severe asthma, COPD, and constrictive pericarditis
A 92 year old woman who was recently admitted to a nursing home because of progressive dementia has large purpuric lesions over the dorsa of both forearms and hands. Her family states that she has had similar lesions on and off for years and that they are form absence of trauma. The woman appears well cared for and has no other indications of recent or remote injury. Her plt count is normal.
Senile purpura or actinic purpura -benign patches of extravasated RBCs which occur on sun-exposed areas in elderly people; they occur due to atrophy of dermal collagen
Is characterized by chronic erythema, fibrosis, and reddish-brown discoloration due to deposition of hemosiderin (from breakdown of extravasated red cells). Symptoms are typically bilateral, and usually worse at or above the ankles. Complications include poor wound healing, weeping, and ulceration.
Stasis dermatitis
A 44-year-old man comes to the office due to several weeks of difficulty walking and frequent falls. He has had no headache or visual impairment but reports episodes of sharp, stabbing pain in his extremities. The patient has HIV acquired from unprotected sexual contact and is nonadherent with treatments. Temperature is 37 C (98.6 F). Neurologic examination shows 5/5 motor power in all extremities. Deep-tendon reflexes are absent at the knee and ankle bilaterally. Proprioception and vibration sensation are reduced throughout the lower extremities. He has a wide-based gait and a positive Romberg sign.
Tabes Dorsalis
Is a rare congenital neurocutaneous disorder characterized by the presence of a cutaneous facial angioma (port wine stain) as well as leptomeningeal vascular malformations. This condition is associated with intellectual disability, seizures, hemiplegia, and "tram-track" calcifications on skull radiographs.
Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
A 28 year old woman has had restlessness , exercise intolerance, palpitations, diarrhea, and excessive sweating for the past 3 days. She had an upper respiratory tract infection 3 weeks ago. The thyroid gland is diffusely enlarged and tender. Serum T4 and T3 are increased. Serum TSH and radioactive iodine uptake by the thyroid are both decreased.
Subacute thyroiditis
Most patients are asymptomatic. When symptoms occur, they are typically related to arm ischemia in the affected extremity (eg, exercise-induced fatigue, pain, paresthesias) or vertebrobasilar insufficiency (eg, dizziness, vertigo, drop attacks). Physical examination can show a significant difference (>15 mm Hg) in brachial systolic blood pressure between the affected arm and normal arm. Doppler ultrasound of the cerebrovascular and upper extremity arterial circulation establishes the diagnosis in most patients.
Subclavian Steal Syndrome
A 35 yr old man comes to the physcian 1 day after her noticed a painless mass on the right side of his scrotum. Examination of the scrotum shows a 2 cm, firm, nontender mass on the right that cannot be separated from the right testis.
Testicular cancer; cancer on the testis not scrotum
A 16-year-old boy is brought to the emergency department due to severe right groin pain that has worsened over the past 12 hours. During the last month, the patient has had several episodes of mild scrotal pain while walking between classes at school. He has no history of traumatic injury and is sexually active. Medical history is unremarkable except for an inguinal hernia repaired a year ago. Temperature is 36.9 C (98.4 F), blood pressure is 116/78 mm Hg, and pulse is 86/min. On examination, the right hemiscrotum is swollen and tender.
Testicular torsion
A 34-year-old man is brought to the emergency department after several episodes of coffee ground emesis. The patient says his mouth feels dry and that he becomes dizzy on standing. He has recently taken ibuprofen for a back injury sustained several weeks ago. Blood pressure is 90/60 mm Hg and pulse is 120/min. His skin is cool and clammy, and there is mild epigastric tenderness. Increased levels of which of the following molecules are most likely to be seen within the vascular smooth muscle of this patient?
This patient with coffee ground emesis, orthostatic hypotension, and tachycardia likely has a brisk upper gastrointestinal hemorrhage due to excessive ibuprofen use. His sympathetic tone has increased in an effort to prevent circulatory failure from hypovolemia, causing vasoconstriction (eg, cool, clammy skin) and tachycardia
A 15-year-old boy comes to the office due to right arm numbness. He plays on his high school baseball team and has been intensively practicing his pitching for an upcoming game. For the past several weeks, the patient has had fluctuating tingling and numbness involving the right shoulder, arm, and hand. He also has recently developed dull pain in the right little finger and hand. The symptoms worsen with overhead activities and when throwing a baseball. The patient has no medical problems other than being told that he has an extra rib. On examination, there is right-sided weakness of the intrinsic hand muscles. Which of the following muscles is most likely contributing to this patient's condition?
Thoracic Outlet Syndrome This patient's upper extremity neurologic symptoms in the setting of an extra rib are highly suggestive of thoracic outlet syndrome (TOS). The thoracic outlet refers to the region above the first rib and behind the clavicle that is bordered by the cervical vertebral bones and the sternum. Compression of the brachial plexus as it passes through the thoracic outlet can cause upper extremity numbness, tingling, and weakness (most often in an ulnar distribution due to compression of the lower trunk). Involvement of the subclavian vein and artery can also occur and lead to upper extremity swelling and exertional arm pain. The presence of an anomalous cervical rib or scalene muscular anomalies can predispose to TOS. Affected patients typically have a history of trauma or repetitive overhead arm movements (eg, swimming, stacking boxes).
A 24 year old man comes to the physician because his wife has been unable to conceive for the past 2 years. Previous evaluation of his wife showed no abnormalities. He has no history of major medical illness. He does not smoke cigarettes. Physical exams shows a left testicle that is smaller than the right and an enlarged left spermatic cord that increases in size with Valsalva maneuver. Labs show oligospermia.
Varicocele -Not cryptorchidism because both testes have descended into the scrotum -infertility is a potential complication of varicoceles
Are dilated, tortuous veins most commonly found in the superficial veins of the leg. They are caused by chronically increased intraluminal pressure and/or loss of tensile strength in the vessel wall, leading to incompetence of the venous valves. Common complications include edema, stasis dermatitis, skin ulcerations, poor wound healing, and infections.
Varicose veins
Abnormal neural crest development leads to this disease. It is a syndrome of patchy depigmenation of the skin, hair, irises, and cochlear dysfunction that primarily illustrates an autosomal dominant inheritance pattern. Because of genetic mutations of genes encoding transcription factors, neural crest cells do not properly differentiate into melanoblasts (melanocyte precursors), or melanoblasts do not migrate to their appropriate location. Pts typically have a white forelock and eyelashes, depigmented skin patches, iridic heterochromia, and sensorineural deafness. The eyes may be laterally displaced.
Waardenburg Syndrome
A 68-year-old woman is brought to the emergency department due to confusion and lower extremity weakness. The symptoms began 2 days ago along with fever, headache, malaise, and myalgias. Today, the patient was noted to be confused and had difficulty ambulating due to left lower extremity weakness. The patient has a history of lymphoma in remission, hypertension, and type 2 diabetes mellitus. She drinks alcohol socially but does not use tobacco or illicit drugs. She is visiting her family in Texas for the summer and has never traveled outside the United States. Temperature is 38.3 C (101 F), blood pressure is 130/70 mm Hg, and pulse is 96/min. The patient is oriented to place and person only and has a coarse hand tremor. There is flaccid paralysis of the left lower extremity with preserved sensation. CT scan of the head shows no abnormalities. Lumbar puncture is performed, and cerebrospinal fluid analysis shows lymphocytic pleocytosis and elevated protein. Cerebrospinal fluid polymerase chain reaction testing yields viral RNA
West Nile Virus infection
A 15 year old boy has nasal polyps and develops bronchospasms after taking a drug
aspirin induced nasal polyps
A 29-year-old man is brought to the emergency department by his friend due to retrosternal chest pain for the past hour. The patient is agitated and restless. Temperature is 38.1 C (100.6 F), blood pressure is 180/106 mm Hg in the right arm and 182/104 mm Hg in the left arm, pulse is 110/min, and respirations are 20/min. Physical examination shows bilaterally dilated pupils, normal heart and lung sounds, and a nontender abdomen. ECG shows sinus tachycardia with ST-segment depression in the precordial leads. Chest x-ray reveals no parenchymal opacities or pleural effusion and a normal mediastinum and cardiac silhouette. Cardiac enzymes are normal. Sublingual nitroglycerin and benzodiazepine therapy relieve the symptoms
cocaine intoxication
A 32-year-old woman comes to the emergency department with sudden-onset left flank pain and nausea. The pain radiates to the left groin and she is unable to find a comfortable position on the examination table. The pain is intermittent and waxes and wanes in severity. Temperature is 36.7 C (98 F), blood pressure is 140/90 mm Hg, and pulse is 92/min. She has mild tenderness to percussion over the left flank. Bowel sounds are hypoactive.
kidney stones
Infants with hydrocephalus typically develop?
macrocephaly, poor feeding, muscle hypertonicity, and hyperreflexia.
Patient vomiting a lot of blood
esophageal varices----->portal HTN
homogenization of dermal collagen
fibrosis
symmetric, bilateral wedge-shaped strips of necrosis over the cerebral convexity are characteristic of?
global cerebral ischemia; infarcts in watershed regions (because of symmetric bilateral presentation)
Patient with cyanosis (lips and fingertips blue) that does not improve with supplemental oxygen
methemoglobinemia
This patient experienced sudden-onset shortness of breath and chest pain following chest trauma; chest x-ray shows several rib fractures and a collapsed right lung, findings consistent with:
traumatic pneumothorax
