Peds Exam 1 (Jordan) with PANCE questions
Which of the following is true concerning cytomegalovirus (CMV) infection during pregnancy and the neonatal period?
Approximately 10% of asymptomatic congenital CMV infections will eventually result in some degree of neurosensory disability or deficit
A 6-month-old healthy infant presents with an inability to sleep through the night. He has 3 - 4 nighttime awakenings, and his parents spend a long time getting him to go back to sleep. Both parents work and their sleep continues to remain disrupted, which affects their work performance the next day. Question What best describes the physiology of sleep in this patient?
Approximately 25% - 50% of 6 - 12-month-olds, and 30% of 1-year-olds, have problematic night waking
A 2-week-old female infant presents for her scheduled newborn visit. The mother notes that the infant has been feeding poorly and seems to have difficulty catching her breath when crying. On examination, a continuous machine-like murmur is heard at the left first intercostal space.
PDA
A 3-month-old term infant presents for a wellness exam, and his parents report worsening in his feeding habits and rapid breathing. On exam, there is a grade III/VI harsh heart murmur heard over the left subclavicular region that starts in early systole, peaks at S2, and decrescendos until the next S1. The infant is tachypneic and has bounding pulses of his upper and lower extremities. All other findings are within normal limits. A chest x-ray shows an enlarged left ventricle and atrium and increased pulmonary vasculature markings. DX?
PDA
A preterm female infant born to a 32-year-old woman with no known past medical illnesses presents for the infant's 1-week follow-up. The mother reports that the patient is behaving normally and is feeding well. The physical exam is remarkable for a murmur, which is located at the 2nd left intercostal space. The murmur is continuous throughout cardiac systole and diastole, nonradiating, and of a "machinery" quality. Additionally, there is a widened pulse pressure. The skin and mucosa is without cyanosis, and there is no evidence of fluid retention. Question Based upon the physical exam finding, what is the most likely diagnosis?
PDA
Mandatory newborn screening has been conducted on an infant who was born 36 hours ago. The abnormality found in the screening results requires counseling in order to initiate lifelong modification of the diet in order to help decrease the incidence of abnormal intellectual development. Question What disease state was most likely found during this patient's screening?
PKU
A 1-year-old boy presents with 'barking' cough and inspiratory stridor. What virus is the probable causative agent of the infant's illness?
Parainfluenzavirus
What is the infective agent causing measles?
Paramyxovirus
Molluscum contagiosum
"bumps on abdomen"
Candida/ thrush
(oral candidiasis), which appears as white plaques anywhere in the mouth, is not uncommon in neonates who have had exposure to Candida albicans during birth. The punctate bleeding that occurs with attempts to remove the plaques is characteristic for candidiasis. Milk residue may resemble the lesions of thrush, but no bleeding occurs with removal of the milk.
Patau syndrome
(trisomy 13) is characterized by intellectual disability (intellectual developmental disorder), cleft lip and palate, microcephaly, low-set ears, central nervous system malformations (e.g., holoprosencephaly), and microphthalmia.
Childhood injuries Drowning Burns Choking Food safety
...
Develpmental
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Down Syndrome
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Hemophilus influenza
...
Hyaline membrane disease
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Kawasaki disease
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Marfan Sydnrome
...
Meconium aspiration
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Nutrition
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Phenylketonuria PKU
...
RSV
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Seborrheic dermatitis
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Uticaria
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varicella
...
Serum alpha-fetoprotien
...Associated with tumors
Lice
...Pediculosis
In normal development, hand dominance is usually first observed around the age of
1 year
A 6-month-old infant is brought in for routine vaccination. Measles still continues to be a major health problem worldwide. Sporadic endemics continue in the United States in spite of efforts to eradicate the disease. The vaccine used for measles is a live-attenuated vaccine, and the age at which it is given is very important. What is the current vaccination guideline for measles?
12 - 15 months and 4 - 6 years The MMR vaccine is a mixture of live attenuated viruses, administered for immunization against measles, mumps and rubella. The current recommendation for MMR vaccine is that the 1st dose should be given at 12 - 15 months. The 2nd dose of MMR is routinely recommended at 4 - 6 years of age. However, it may be administered during any visit, provided that at least 4 weeks have elapsed since the first dose and both doses are administered beginning at or after the age of 12 months. Those children who have not received the second dose at the recommended age should complete the schedule by 11 - 12 years of age. The vaccine should not be given before 12 months of age because maternal antibody in the child can neutralize the virus, thereby reducing the immune responses. Since immunity can wane, a booster dose at the age of 4 - 6 years is recommended. Because it is a live vaccine, it should not be given to immunocompromised persons or pregnant women.
An infant is able to climb stairs alone and begins to use her right hand more than her left hand. Her mother notices that she always looks to see if her mother is there when she plays. She is able to scribble spontaneously. Her favorite word is 'no', but she also uses 2 word phrases such as 'go eat'. She also will say 'my nose' while pointing to her own nose. If she is taken from her mother and does not see her mother, she cries frantically. She is able to stack 3 cubes on top of each other when playing. Question Approximately what age is this infant?
18 months This clinical scenario is typical of an 18-month-old. During this stage, a child should be able to climb stairs alone and start developing a hand preference. The child will experience separation anxiety from 10 - 18 months of age. From 18 - 24 months of age, the child can use 2 word sentences. From 18 - 30 months, the child's vocabulary expands; this period is usually characterized by the 'terrible twos', which is when the child starts to develop autonomy and their favorite word is 'no'. At 18 months, their motor development is such that they can stack blocks and scribble spontaneously. A newborn infant demonstrates reaching and grasping behavior, the Babinski reflex, the ability to imitate facial expressions, synchronization of their limb movements with speech of others, and attachment behaviors (e.g., crying and clinging). A 7-month-old can sit without support, can stand with support, and demonstrates repetitive responding. Between 7 - 9 months, an infant may begin experiencing stranger anxiety. At 12 months a child is able to hold your finger in a way known as the Spencer grasp. The 1st steps happen between 12 and 13 months. Separation anxiety begins between 8 and 12 months, and it usually terminates around 24 months. Stranger anxiety disappears after 12 months. At 30 months, a child's vocabulary expands; they can also recognize themselves as a boy or girl, and toilet training can be achieved at this time. They can kick a ball and balance on 1 foot for 1 second; they can also stand on their tiptoes.
In the majority of infants, the anterior fontanelle normally closes completely by:
24 months
Development: Walking
25% at 11 mo 75% by 13 mo 90% by 14-15 At 18 mo, begin to worry (probably still okay). Duchenne MD, or cerebral palsy
At birth the facial skeleton would have reached what percentage of its intended growth?
45%
Infants in first ___months of life are at greatest risk of growth failure from restricted energy
6
In normal development, a baby born at term should be able to sit unassisted at
6-7 months
A male neonate is brought to the NICU post-delivery. The only available history is that the mother was a substance abuser and had irregular prenatal care. The patient has an abnormal heart rhythm, is small, and has abnormal palmar creases. What substance can cause these symptoms along with intellectual disabilities and abnormal facial features?
Alcohol
A 4-day-old infant is seen for a routine newborn check; he has yellow skin from his face down to his chest. He is a full-term baby, had a normal vaginal delivery, weighed 3.180 kg at birth, and 3.100 kg at discharge. He is breastfeeding well, and stooling and voiding regularly. He is well-hydrated and active. Laboratory results reveal an indirect bilirubin of 12.2 mg/dL, and a direct bilirubin of 1.0 mg/dL. Question What is the physiologic mechanism behind this jaundice?
An elevation of indirect bilirubin due to increased bilirubin production The correct response is an elevation of indirect bilirubin due to increased bilirubin production. Unconjugated indirect bilirubin enters the liver and is excreted from the hepatic cells in a water-soluble form (conjugated and direct) into the biliary system. The direct bilirubin leaves the body in the form of stool. The most common cause of indirect hyperbilirubinemia is physiologic jaundice, which peaks at 2 - 4 days of life. Physiologic jaundice is due to increased bilirubin production after the breakdown of red blood cells, in conjunction with limited conjugation of bilirubin by the immature liver. Physiologic jaundice can be worse in babies that are breastfed, due to a higher level of dehydration as the mother waits for her milk to come in.
A term infant is apneic at birth. After providing warmth and positioning and clearing the airway, the infant is still apneic and has central cyanosis; his heart rate is 80 beats per minute. Question What is the next appropriate step for resuscitation of this newborn?
Begin positive pressure ventilation
A 4-day-old male infant is seen for a routine newborn check; he has yellow skin from his face down to his chest. He is a full-term infant; vaginal delivery was normal. He weighed 3.180 kg at birth, and 3.100 kg at discharge. He is breastfeeding well; he is also stooling and voiding regularly. He is well-hydrated and active. Laboratory results reveal a direct bilirubin of 3.4 mg/dL, and an indirect bilirubin of 12.3 mg/dL.
Biliary atresia
Which of the following inherited diseases has a clinical picture of viscid secretions, pancreatic insufficiency and chronic pulmonary disease?
CF
A 4-month-old febrile infant presents with loss of appetite, irritability, seizures, focal sensory and motor deficits, and an acute petechial rash. On physical examination, a bulging fontanelle is noted; rectal temperature is 102.8°F. What study would be most important in this child's evaluation?
CSF analysis (meningitis)
While doing routine newborn exams in the nursery on full term infants, you note a 4 - 5 cm soft, raised, round, nontender, bruised swelling overriding the left occipitoparietal suture on a 30-hour-old male infant. He was born by spontaneous vaginal delivery with rupture of membranes at home. He has been feeding well. On the rest of his exam, his red reflex is present bilaterally, lungs, heart and abdominal exams seem normal. Rest of his skin is pink, warm and dry, without cyanosis. What is the most likely diagnosis?
Caput succedaneum Caput succedaneum represents an accumulation of serosanguineous subcutaneous fluid. This fluid is thus not bound by suture lines, but may have poorly defined margins and extend across midline and suture lines. It is caused by mechanical trauma of the presenting portion of scalp pushing through a narrowed cervix. It is more likely to be seen after a prolonged or difficult delivery especially after prolonged rupture of membranes. This fluid collection will resorb within a few days, thus no treatment is necessary. Jaundice might result with very large caputs.
A 10-day-old male infant presents with bilateral conjunctivitis with moderate white discharge. He is acting normally, has no fever, and is feeding well. He was born full term via vaginal delivery without any complications. His mother had prenatal care starting at 12 weeks. He has been gaining weight well. On exam, he is alert and active.
Chlamydia trachomatis Explanation Ophthalmia neonatorum is a form of conjunctivitis occurring in infants younger than 4 weeks. The usual incubation period for C. trachomatis is 5 - 14 days and 2 - 5 days for N. gonorrhoeae.
A 1-month-old full term male infant has been diagnosed with Tetralogy of Fallot. His disease is being classified as moderate, and he has been admitted to the neonatal intensive care unit for monitoring. He is now stable and is doing well. During a consultation between the newborn's parents and the pediatric cardiologist, treatment options are being discussed.
Closure of ventricular septal defect and pulmonary valvulotomy
Compared with mature milk, colostrum contains which of the following?
Colostrum corpuscles Explanation Colostrum corpuscles are thought to be either epithelial cells that have undergone fatty degeneration or mononuclear phagocytes. They contain large fat globules. Immunoglobulin A offers protection for the newborn against enteric pathogens.
You evaluate a term newborn boy (birth weight is 3.4 kg) for the sudden onset of respiratory distress immediately after delivery. Prenatal care was lacking. Family history is unremarkable. Temperature is normal. Pulse is 140. Respiratory rate is 36, and blood pressure is 72/42 mm Hg. Breath sounds are markedly decreased, especially on the left. Heart sounds are displaced to the right. Bowel sounds are present in left chest. The abdomen is scaphoid. Arterial pH is 7.21. Question What is the most likely diagnosis
Congenital diaphragmatic hernia
A 6-week-old male infant is brought to the emergency department of your hospital for excessive crying. The mother states that for the past 3 days the baby cried whenever he was lifted from the cot for nursing or changing. Also, the baby had swelling over both upper and lower limbs for the same duration. She noticed that the baby has not been moving his right upper limb since the morning. There was no history of fever, but he had running nose for the past 3 or 4 days. Baby was born at full term. Birth weight was 2.5 Kg. On physical examination, the baby is irritable but accepting feeds well. He weighs 4 Kg and looks pale. He has swelling over both elbows, wrists, knees and ankle joints. Movements at the joints seem painful. Abdominal examination shows liver is palpable 3.5 cm below costal margin and is firm in consistency. Spleen is also palpable 3 cm below costal margin and is firm. Cardiovascular and respiratory systems are normal. Read the X-ray film of both upper limbs. Question What is the most likely diagnosis?
Congenital syphilis
A 24-hour-old term male newborn infant presents with jaundice. Birth weight was 2.5 kg. The infant cried immediately after birth. Physical examination reveals baby has severe icterus, and no pallor; cry and activity are fair, and there is no hepatosplenomegaly. Tone in the limbs is normal, and neonatal reflexes are elicited. Blood examination shows HB of 16.5GM%, and tlc of 15,200/Cmm; DLC - polymorph 62%; lymphocytes 34%, eosinophils 2%, and monocytes 2%. CRP is negative. Serum bilirubin total - 28.6 mg% Unconjugated - 28.6 mg% Conjugated - nil Direct Coomb's test - negative Question What is the most likely diagnosis?
Correct answer: Crigler-Najjar syndrome type I Explanation The most likely diagnosis is Crigler-Najjar syndrome (Glucuronyl transferase deficiency) type I as the neonate has presented with severe indirect hyperbilirubinemia on day 1 of life. It is non-hemolytic type of hyperbilirubinemia; there is no pallor or hepatosplenomegaly, hemoglobin level is normal, and direct Coomb's test is negative. This excludes hyperbilirubinemia due to hemolysis. The most common cause of severe non-hemolytic indirect hyperbiluribinerina during first 3 days of life is Crigler-Najjar syndrome type I. It is characterized by absence of hepatic glucoronyl transferase enzyme, which is responsible for conjugation of the unconjugated, lipid-soluble bilirubin into conjugated, water-soluble bilirubin. It is inherited as autosomal recessive disease. Clinical manifestations include severe jaundice within first 3 days of life. Serum bilirubin level may go up to 25 - 35 mgm/dL. Serum bilirubin level of more than 30mg/dL may lead to kernicterus, which has a mortality rate of above 50%. Stools are pale yellow. Management consists of repeated exchange transfusions to keep the serum bilirubin level below 20 mg/dL. Phototherapy is generally continued during early years of life. Risk of kernicterus may persist up to adult life. There is no response to phenobarbitone.
Which of the following hepatic disorders corresponds with a clinical picture involving jaundice, has a good response to phenobarbital, and is autosomal dominant with incomplete penetration?
Crigler-Najjar Type II
A 3-year-old boy presents with difficulty in breathing and a cough that sounds like a seal. On examination, the child has fever, a harsh barking cough, a respiratory rate of 38/minute, and minimal stridor on agitation. On lung auscultation, there are no rales or wheezing. On cardiac auscultation, there is tachycardia. Radiological examination reveals the so-called 'steeple sign'. What is the most likely diagnosis?
Croup
A 2-year-old boy presents with failure to gain weight. He is the same weight that he was at his 18-month well check. His mother says that she offers him 3 meals per day and 3 snacks, but he usually just picks at them. He does not seem hungry. He does enjoy chicken nuggets, goldfish crackers, and cookies. She gives him a cup of juice each day and around 40 ounces of whole milk. He was a full-term infant and has no significant past medical history. He was fed breast milk exclusively until age 1. He was then switched to whole milk and solids were introduced. Other than his failure to gain weight, his physical exam is normal. He is gaining adequately in height and head circumference. He is reaching age-appropriate milestones and appears well, without any sign of systemic disease. Question What should his mother initially try in order to help him gain weight?
Cut down milk consumption This toddler is not eating a well-rounded diet. He should be consuming 2 - 3 servings daily of dairy, which translates into 16 - 24 ounces of milk. He seems to be filling up on the milk, which could make him less hungry for solid foods. He enjoys certain snacks, but his diet lacks the proper calories, protein, iron, and many vitamins and minerals.
A family friend calls you for medical advice. She just gave birth to her 3rd child 1 week ago. She is worried after a nurse from the hospital called her. The nurse said the baby tested high on a newborn screening for phenylalanine and that she would set up an appointment at a specialty center for the family. Your friend could not remember the name of the disorder, but she was told that it could prevent the infant from normal neurological development if left untreated. The friend reports that her pregnancy was uncomplicated, and the infant appears healthy so far. No one in the infant's immediate family has any health problems.
Dietary control phenylketonuria (PKU), which is an autosomal recessive metabolic disorder that causes abnormal metabolism of phenylalanine and results in elevated serum phenylalanine. Dietary control, primarily by restriction of phenylalanine, is the mainstay of treatment. PKU is rare and diagnosed by routine newborn screening. A strict diet low in phenylalanine can prevent complications of the disease, and afflicted patients can lead a relatively normal life. Neurologic deficits, such as mental retardation and seizures, can occur if untreated. If an afflicted patient does not adhere to the special diet, he or she may begin having cognitive deficits and/or seizures.
A full-term neonate with an Apgar score of 9 at birth developed abdominal distension with watery diarrhea and flatulence following the initiation of milk feeding. The infant became normal when the milk feeding is terminated. What is the most likely diagnosis?
Disaccharidase deficiency The disaccharidases, of which the most important is lactase, are located in the apical cell membrane of the villous absorptive epithelial cells, the deficiency of which leads to the incomplete breakdown of the disaccharide lactose into its monosaccharides, glucose, and galactose, leading to diarrhea from the unabsorbed lactose. Bacterial fermentation of the unabsorbed sugars leads to increased hydrogen production, which is readily measured in the exhaled air by gas chromatography. There are both hereditary and acquired forms. Histologically in both, there is no abnormality of the mucosal cells of the bowel. Malabsorption is promptly corrected when exposure to milk and milk products is terminated
A 3-month-old male infant has been brought into the pediatric clinic for assessment. The newborn's mother states that her child is not gaining adequate weight despite a regular breast feeding schedule. She additionally has noted that the child appears to get "very tired and inactive" during and after breast feedings, and that she is able to feel copious amounts of sweat on the child's skin following feedings. She denies any known illness in her child and recalls a normal birth. The general survey reveals a weight and length in the fortieth percentile, tachycardia, and tachypnea. The cardiac exam is remarkable for a bounding and hyperdynamic precordium, a holosystolic harsh murmur that is audible over the lower LSB, and a loud second component of the second heart sound. Question What is the best next diagnostic step for this child?
Echo VSD
During your well newborn morning nursery rounds, a nurse tells you about an abnormal finding on an antenatal ultrasound that was done. The rest of the maternal history is unremarkable. The infant was born last night. She was born at term and without any complications, and she seems to be feeding and transitioning well; however, she has not passed stool yet. What antenatal ultrasound finding might be a marker for cystic fibrosis?
Echogenic bowel
It is your week to perform newborn examinations in the newborn nursery of your community hospital. A full-term Caucasian infant is a product of an uncomplicated pregnancy, labor, and delivery. Birth weight is 8 lbs, and length is 21 inches; head circumference is 14 inches. As you examine the baby's mouth you identify 6 raised yellowish-white raised lesions, each approximately 1 mm in size; these lesions are located along the mid-palatine raphe. The remainder of the physical examination is normal. Question What is the most likely diagnosis?
Epstein's pearls Epstein's pearls are 1 of 2 forms of cystic or fluid filled lesions of the palate found in approximately 60% of newborns and more commonly in Caucasian than African-American babies. Epstein's pearls are located within the fusion of the posterior palatal segments and result from the inclusion of epithelial cells during palatal fusion. Bohn's nodules occur along the junction of the hard and soft palate or adjacent to the midpalatal raphe and are derived from epithelial remnants of developing palatal salivary glands. The lesions are without symptoms and regress spontaneously within a few weeks to months.
A 1-month-old infant is being evaluated for rapid breathing, feeding difficulty, lethargy, and poor weight gain. The physical exam is notable tachypnea, tachycardia, a cardiac gallop, and a medium-pitched systolic murmur, which is best heard posteriorly in the interscapular area with radiation to the left axilla, apex, and anterior precordium. A prominent anterior chest heave is also observed. The lower extremities demonstrate a 12 mmHg pressure difference as compared to the upper extremities. Additionally, there are delayed femoral pulsations; his upper extremity pulsations are normal. Question What is correct regarding the long-term management of this patient?
Evaluation by a cardiovascular surgeon is essential for definitive treatment. Explanation Evaluation by a cardiovascular surgeon is essential for definitive treatment. This patient's manifestations suggest a diagnosis of coarctation of the aorta. Currently, there is general agreement that symptomatic children younger than 6 months of age should undergo surgical repair, and those who develop significant recurrent stenosis at any age should undergo balloon dilation or stent placement. The optimal therapy for the treatment of native coarctation in children older than 1 year of age remains somewhat controversial. Postnatally, early detection of coarctation of the aorta is important to avoid prolonged hypertension or other complications. Careful measurement of BP and evaluation of lower extremity pulses in newborns and at subsequent healthy child examinations is imperative. Infants with severe failure and any important associated defects should undergo surgical correction in order to survive. Significant hypertension or congestive heart failure (CHF) is an indication for intervention. Surgical relief of the aortic obstruction and catheter interventional techniques (balloon angioplasty and stents) are available alternatives. Symptomatic neonates and infants should undergo urgent intervention soon after the infant is stabilized.
Supine infant (6-8wk) milestones
Eyes follow an object normal cry smiles responsively responds to sounds PE: head circumference and weight, red reflex
Atopic dermatitis
First line treatment for atopic dermatitis includes frequent systemic lubrication with emollient creams, wet dressings, and topical steroid preparation applied twice daily. It is also important to avoid skin irritants, such as soaps, harsh shampoos, and fabrics that can irritate the skin. If the symptoms persist or worsen despite concerted efforts to comply with prescribed treatment, then second line treatments can be attempted. One option is a topical immunosuppressive agent, such as tacrolimus or pimecrolimus, for episodic use in children over the age of 2.
A 13-year-old boy presents with dysmorphic features (e.g., a long face, prominent jaw, and large ears), large testes, and intellectual disability (intellectual developmental disorder). History reveals that 2 other family members also have intellectual disability.
Fragile X syndrome
A 14-year-old boy is brought to your medical office by his mother for a physical examination. According to the mother, the child was diagnosed with intellectual disability (intellectual developmental disorder) 2 years ago. They have just relocated from another state, and he requires a physician's clearance to start at a new special education school. She states that he has been in good physical health since birth. His past medical history includes a few mild headaches and upper respiratory tract infections, but no chronic conditions, hospitalizations, operations, or medications. The mother has brought his vaccination records with her, and they show all immunizations are current. Family history is positive for a maternal grandmother that developed dementia at age 55 and an autistic maternal uncle. Pertinent findings on the physical examination include an unusually narrow face, a prominent forehead, large protruding ears, a prominent jaw, and unusually large testes.
Fragile X syndrome
Which of the following diseases has a clinical picture of autistic features, mental retardation, large jaw and ears?
Fragile X syndrome
The most common organism causing bacterial meningitis in newborns is
Group B strep
A 10-month-old infant presents with a fever and painful, swollen left elbow. The swelling of the elbow restricts movement of the arm. The patient had been in good health 2 days prior. He has a body temperature of 40.8°C, pulse of 175, respiration of 40, and is in the 95th percentile (length and weight) for his age. Blood counts are significant for a WBC count of 25,000 with a left shift. A radiograph of the elbow is significant for the presence of soft tissue swelling and a widening of the joint space. The elbow joint is aspirated; a Gram stain result is significant for the presence of many WBCs and Gram-negative bacilli. 24 hours later, the culture is positive for 4+ growth on the chocolate agar, but not on the MacConkey or blood agar. The colonies are gray in appearance and have a 'musty' or 'mousy' smell. The organism is found to require the presence of hemin (X factor) and nicotinamide adenine dinucleotide (V factor) for growth. What is the cause of this joint infection?
H flu
A 10-year-old child complains of anorexia, malaise, mild fever, and sore throat for 2 days, then painful sore red spots some with blisters on the tongue, gum, inside of the cheek, palms, and feet. What is the most probable diagnosis?
Hand foot and mouth
What statement about hearing loss and OM is most accurate?
Hearing loss during OM may adversely affect cognition and language
Upon being called to the nursery, a newborn presents with slightly jaundice on the second day after birth. Your examination of the newborn is normal and there is nothing significant in the history except that the mother received essentially no prenatal care. She did have a test for syphilis, which was negative; she was immune to rubella; and there is no blood group incompatibility. Upon further questioning of the mother, she admits to having had occasional "recreational" IV drug use during pregnancy. Which of the following might this infant be at risk for?
Hep B
Roseola
High fever....resolves...then rash
A 5-month-old female infant presents with a 3-day history of vomiting. She is exclusively breastfed, and her mother states that today she has vomited within 15 minutes of each feeding. Her last wet diaper was 10 hours ago. On physical examination, she is afebrile, tachycardic, irritable, and does not express tears when crying. She was a full-term infant born via vaginal delivery. She has no significant past medical history. Her 3-year-old sister has had gastroenteritis for the past few days. Question What is the most likely laboratory finding?
Hypokalemia This infant is showing signs of moderate dehydration due to emesis and limited breast milk intake. Gastric and urinary potassium losses can both contribute to hypokalemia.
You are currently on an inpatient pediatric hospitalist team; you see a pre-term infant who has signs of failure to thrive. Other signs and symptoms found during the history and physical examination include tachypnea, bounding peripheral pulses, and a rough, machine-like murmur. Clinical intervention
Indomethacin PDA
You are currently on an inpatient hospitalist team in a local pediatric hospital. First thing this morning, your team is called in to evaluate an infant born at 27 weeks gestation 50 minutes ago. Upon initial inspection of the newborn, you observe rapid, labored grunting respirations, flaring nostrils, and retractions that are present above and below the breastbone. Auscultation reveals diminished air movement, and a chest radiograph reveals a ground glass appearance in the lung fields bilaterally. The patient is diagnosed with respiratory distress syndrome (RDS). Question What pharmacological agent should be initiated as soon as possible to help alleviate the patient's signs and symptoms?
Inhaled surfactant replacement
You evaluate an 8-month-old girl in the emergency department for a burn to the buttocks that occurred approximately 12 hours ago. The child's mother hoped that it would improve spontaneously. She states that her boyfriend was bathing the child in a tub when she momentarily slipped out of his hands. Past history is unremarkable. Growth and development have been normal, and immunizations are up to date. Vital signs are normal. The infant is quite irritable. There is a circular patch of erythema of uniform thickness with sharp margins involving the buttocks, upper posterior and anterior thighs, perineum, and suprapubic area, sparing an ovoid zone surrounding the area overlying the ischial tuberosities. Multiple vesicles have begun to form. Question What is the most likely explanation for this pattern of injury?
Intentional immersion with the spared area pressed against the surface of the tub (abuse)
A 6-week-old male infant presents with a 2-day history of vomiting after every feeding of cow's milk-based formula with iron, in the amount of 4 ounces per feeding. There has been no fever, diarrhea, or other symptoms except increased crying. The child appears alert and hungry. The mother describes the vomiting as forceful, traveling about 2 feet. Physical evaluation reveals minimal tear production with mild skin tenting. Bowel sounds are decreased. BUN was 29 mg/dl; serum sodium was 129 mg/dl; serum potassium was 3.4 mg/dl; serum chloride was 89 mg/dl; and serum bicarbonate was 34 mg/dl. Question What is the next step in this patient's care?
Intravenous correction of dehydration and electrolyte imbalance with simultaneous abdominal ultrasonography Explanation While the above scenario is highly suggestive of infantile hypertrophic pyloric stenosis (IHPS) (age 6 weeks, male, projectile vomiting with each feeding, hypochloremia with metabolic alkalosis), the need for surgery is not emergent. The child should be placed NPO, and dehydration and electrolyte abnormalities should be corrected, after which a pyloromyotomy can be performed.
A 14-year-old boy is brought to the Emergency Department by paramedics after being found in a neighbor's pool. He was pulled out of the pool by the neighbor who performed CPR until paramedics arrived. Question Regarding drowning events in children, which of the following statements is most accurate?
It is one of the top 3 causes of injury-related death in children worldwide
Which of the following sex chromosome linked diseases has the clinical feature of eunuchoid body habitus, low serum testosterone, high estradiol/ testosterone ratio and high urinary gonadotropin levels?
Klinefelter sydnrome
A 15-year-old boy is seen by his primary care physician for delayed sexual changes during puberty. Upon physical exam, the physician notes an overall normal appearance, with small testes and some gynecomastia. Behaviorally, the patient seems to be somewhat shy and reserved, with occasional social outbursts. Although he is tall for his age, he is uncoordinated and inactive. Measured testosterone levels are decreased. A karyotype is done, and found to contain an extra chromosome. The most probable diagnosis for this child is which of the following?
Klinefelter syndrome
A mother brings her 16-year-old son to your medical office for a comprehensive history and physical examination. She tells you she is concerned about his immature physical development and insecure behavior. She thinks these characteristics are markedly different from her other children. His IQ is 70, and he is in special education for a language-based learning disability. On physical examination, he is tall and thin; he has sparse body hair and a high-pitched voice. Heart, lungs, abdomen, and neurologic exam are unremarkable. Pertinent positive findings include disproportionately long arms and legs, gynecomastia, as well as small testes and phallus.
Klinefelter syndrome
Upon examining the genital area of a 22-year-old patient, small firm testes measuring 1 cm are palpated. Physical exam also reveals a small penis, sparsely distributed pubic, armpit, and facial hair, and enlarged breasts. His weight is normal for his height. He is 6' 11" with long legs and a short trunk. What is the most likely diagnosis?
Klinefelter syndrome
You are evaluating a 26-year-old man; he is suspected of being infertile. His past medical history is unremarkable. On examination, you note he is 6 foot 4 inches tall; he has mild gynecomastia, sparse body hair, and small soft testes.
Klinefelter syndrome
Bacterial tracheitis
S. aureus
Rotavirus
MCC of gastroenteritis in children
A 13-year-old girl is 6' 2" (1.88 m) tall. She has had no major medical illnesses, but she presents with joint laxity and a history of dental crowding. Her family history is significant for her mother also being tall and having a history of retinal detachment. Her maternal uncle died at the age of 33 due to a ruptured thoracic aortic aneurysm. Physical examination reveals a narrow, high-arched palate, pectus carinatum, a high-pitched, decrescendo diastolic murmur at the left sternal border, arachnodactyly, and an increased arm span to height ratio.
Marfan Syndrome The clinical picture is suggestive of Marfan syndrome. A high-arched palate, pectus carinatum, a cardiac murmur, arachnodactyly (long fingers), and an increased arm span to height ratio are all characteristic of the syndrome. The high-pitched, decrescendo diastolic murmur suggests aortic regurgitation, which is a complication of aortic root dilation. Her family history of a relative succumbing to aortic rupture is also compatible with a diagnosis of Marfan syndrome.
Examination of a newborn infant revealed the presence of hairy patch present on the lower back. Neural tube defect is most commonly associated with which of the following?
Maternal folic acid deficiency in the first trimester
A 4-year-old boy develops a red rash and becomes febrile. His hands and feet become swollen, and his eyes are reddened and irritated. His father takes him to his pediatrician. On physical examination, he has "strawberry tongue" (enlarged papilla). His oral mucosa is dark, erythematous, and his lips are a bright red. He has palpable cervical lymph nodes. Question What is the most likely diagnosis?
Mucocutaneous lymph node syndrome
Which of the following diseases has a clinical picture of sphingomyelin accumulation in the reticuloendothelial system and vacuolated histiocytes
Neiman-Pick lipoidoses Explanation Niemann-Pick disease is an autosomal recessive disorder which is characterized by the accumulation of sphingomyelin in the reticuloendothelial system as a results of the lack of sphingomyelinase. Loss of alertness, enlarged liver and spleen are typical findings in the neonatal type. In the juvenile type, gait disturbance and learning difficulties are the first symptoms. Vacuolated histiocytes (Niemann-Pick cells) are characteristic findings in the bone marrow. The life expectancy is limited in all major types of the disease.
A 2-month-old infant who is breastfeeding presents with low hemoglobin levels. The infant was born at home and the mother received no prenatal care; she did not, and does not, take any medications. Family history is unremarkable. On examination, the infant appears healthy. Question What is the underlying mechanism of low hemoglobin levels in this infant?
Normal process Explanation Intrauterine hypoxia stimulates erythropoietin. Infants are born with high levels of hemoglobin and erythrocytes in their blood which downregulates erythropoietin. A progressive drop in hemoglobin during the 1st 2 - 3 months of life is the signal to the infant's body to increase erythrocyte production. Called physiologic anemia of infancy, this is considered normal and no treatment is needed.
What is the most frequent viral cause of diarrhea in older children?
Norwalk virus
A 9-month-old female infant presents with an acute onset of a rash on her trunk. She has a 4-day history of fever up to 104oF, but the mother states her daughter has no fever today. She has had some diarrheal stools, but no vomiting. No coughing or nasal congestion has been noted. The child has previously been well. Her past medical history is unremarkable, and she is up-to-date on her immunizations. She attends day care, and her mother notes that some children have been ill with non-specific febrile illnesses over the past 2 weeks. Her only medication has been ibuprofen for the fever. Physical exam shows a temperature of 98.8 F, pulse of 124 BPM, and respiratory rate of 28/min. She is alert and shows no other abnormalities. Her exam shows normal tympanic membranes in the ear and normal conjunctivae in the eye. The neck shows some shotty anterior cervical adenopathy; the throat shows slight erythema of the posterior pharynx, and the skin appears with an erythematous maculopapular rash most pronounced on the trunk. Her chest is clear to auscultation, heart rhythm is regular without murmurs, abdomen is soft and non-tender, and her neurological exam is normal. Question What is the most appropriate intervention for this patient?
Observe the child and reassure the parent
A 3-month-old boy presents with a 12-hour history of lethargy. Physical exam reveals a child who cries and becomes irritable when examined. There is edema noted over the left side of the head. There is no papilledema, and his mother denies a history of the child vomiting. There is a single faint bruise on the upper lip. A CT of the head reveals a linear skull fracture of the left parietal bone; there is no evidence of intracranial injury. On further questioning, the mother states, "My baby rolled over the sofa onto a carpeted floor 2 days ago."
Obtain a skeletal survey to rule out child abuse Explanation Child abuse frequently is unrecognized and unreported, and non-accidental injuries cause 1000's of childhood deaths per year. The possibility of abuse should be considered in any child who presents with a serious injury. Therefore, a skeletal survey should be obtained in this case. A detailed history is the crucial initial step in differentiating accidental from intentional injury. An incomplete or changing history, a history of injury not appropriate for the developmental age of a child, or a history that is incompatible with the type of severity of the injury also are suggestive of the abuse. Linear skull fractures may occur when a child falls onto a hard surface. Rolling off a sofa or a bed, as was reported for this child, is usually associated with only minor injuries, such as abrasions or soft tissue injuries. Also, when a parent seeks medical care for a child who has sustained an accidental head injury, he or she usually volunteers a clear history concerning recent trauma or injury immediately. Failure to give any history for a head injury until confronted with obvious evidence of trauma (e.g., hematoma, skull fracture) is highly suggestive of either neglect or non-accidental trauma. Signs and symptoms of head trauma and central nervous system injury in young children are non-specific and include vomiting, lethargy, seizure activity, and irritability. More serious signs are a rise in intracranial pressure present with a significantly altered level of consciousness, apnea or other respiratory abnormality, hemodynamic instability, or shock. The triad of vomiting, headache, and papilledema, called the Cushing triad, is considered classic of raised intracranial pressure. Findings on physical examination include soft-tissues swelling or lacerations of the scalp, bony step-offs, a bulging fontanelle, split sutures, or pupillary abnormalities.
A 24-year-old woman who is Gravida 4, Para 2, Abort 1 presents to the sonography department for a mid pregnancy examination. She is sure her LMP was 24 weeks ago but is considered LGA and has an elevated MSAFP. The sonographic examination reveals a female fetus with a femur length appropriate for 24 weeks, however the fetal head measures below 2 standard deviations. Facial examination reveals the presence of a cleft maxilla and the feet are bilaterally clubbed. The abdominal circumference is also small and echogenic dilated loops of bowel are seen in the amniotic fluid. Surface appearance of the bowel is smooth indicating a membrane. What condition is a differential diagnosis?
Omphalocele Explanation Gastroschisis is an uncommon condition that is similar to omphalocele. Both are the result of failure of the abdominal wall to close. Gastroschisis allows for the bowel to float freely within the amniotic fluid because there is no covering membrane. Omphalocele has the membranes around the bowel giving the sonographic appearance of a smooth mass extending off the anterior abdominal wall. Associated abnormalities include trisomies (18, 13, and 21), Turner, Klinefelter, and triploidy syndromes. Other physical anomalies seen during a sonographic examination include, cystic hygroma, clubfeet, syndactyly, facial clefts, cleft lip, dwarfism micrognathia, microcephaly and a single umbilical artery.
A 2-month-old female infant presents for a well-child visit. Her mother states that she is concerned about the patient's lack of interest in feeding as well as rapid breathing spells. You acknowledge these concerns, and during the physical examination, you note severe tachypnea, bounding peripheral pulses, and a rough, machinery murmur that is auscultated best near the 2nd left intercostal space.
Patent ductus arteriosus
Mandatory newborn screening has been conducted on an infant who was born 36 hours ago. The abnormality found in the screening has resulted in counseling on initiating lifelong modification to the newborn's diet. It is explained to the mother this action must be taken in order to help decrease the incidence of severe intellectual disability, hyperactivity, and even seizures. Question Considering the most likely diagnosis of this patient, which of the following must be limited in order to prevent these consequences?
Phenylalanine
Compared to cow's milk, mature human milk contains less of which of the following?
Protein Human milk contains about one third the amount of protein as cow's. Cow's milk contains only trace amounts of iron.
What childhood syndrome has the underlying chromosome abnormality, Chromosome 21?
Protruding tongue, upslanting palpebral fissures, brachycephaly, hypotonia Explanation The source of Down syndrome is the trisomy of chromosome 21, although other types of abnormalities can lead to the same syndrome (translocation, mosaicism). Numerous dysmorphic features, hypotonia, cardiac defects, GI abnormalities, and mental retardation characterized the full syndrome.
What are the characteristic symptoms of Pediculosis?
Pruritus and macular rash on the scalp
A newborn infant begins vomiting 4 weeks after birth. The mother states that her infant nurses well, but vomits forcefully after feeding. He has begun to lose weight. This is her first child and she is concerned. On examination, you note a palpable 2 cm firm mass in the abdomen. What is the most likely diagnosis?
Pyloric Stenosis
A newborn infant is delivered at 30 weeks since the last menstrual period. At birth, the infant weighs 1,500gm, but otherwise appears normal. Soon after birth, the infant becomes cyanotic and breathes with a grunting noise. Chest X-rays reveal dense lungs with significant atelectasis but no cardiovascular abnormalities. Question What is the most likely diagnosis?
RDS
A 5-month-old infant presents with severe respiratory symptoms that include apnea and asphyxia; she is admitted to the hospital. 3 days before her admission, she developed rhinitis and a cough with wheezing. The mother became concerned when the child became lethargic. The physical examination reveals an agitated child with a persistent cough. She has a body temperature of 39°C, pulse of 190 BPM with a noted tachycardia, respirations of 76/min, and a blood pressure of 89/58 mm Hg. Her throat is clear, and auscultations of her lungs are significant for expiratory wheezing and rhonchi. Chest radiographs are positive for interstitial infiltrates and hyperexpansion. Blood gases reveal a relative hypoxemia and acidosis. The child is placed in isolation and subsequently intubated. A nasopharyngeal aspirate is sent to the laboratory for a stat rapid diagnostic test; it is positive. The child is treated with ribavirin. Based on the clinical presentation and treatment, what is the most likely diagnosis?
RSV
Early in the morning on a cold winter day, a 5-month-old infant presents with a 2-day history of severe cough, fast breathing, and fever. According to its mother, the infant is gradually getting worse and has been in close contact with other children in the neighborhood. Some of the neighborhood children were coughing when they visited the patient. The mother does not describe any paroxysmal cough. The infant's immunizations are up to date. On examination, the infant is pyrexial, tachypneic, dehydrated, and he has nasal flaring with wheezing. You admit the infant for oxygen therapy and do some blood tests to help your diagnosis. Blood test results are as follows: Leukocyte count: 6,500/mm3 Differential count: Segmented neutrophils 2 Lymphocytes 68% Eosinophils 1% Basophilic 1% Hemoglobin, blood 13.0g/dl What is the most likely causative agent?
RSV
6-9mo milestones
Reaches for objects, turns to voice, babbles, can put solid food in mouth
What is the correct advice for a patient regarding folic acid supplementation in an uncomplicated pregnancy?
Replenished folic acid stores are associated with a reduction in neural tube defects in the fetus/infant. Folic acid (also called vitamin B9) replenishment is strongly associated with a reduction in fetal neural tube defects.1 Folic acid deficiency is a common vitamin deficiency, and Gutierrez quotes an estimate that "75% of neural tube defects could be prevented by the use of folic acid supplements."2 Pregnancy, along with certain anemias, leukemia, and Hodgkin's disease, are conditions that are considered to increase the body's need for folic acid. The recommended daily dose of folic acid for all women of reproductive age is 0.4 mg. For high-risk women (as evidenced by history of a previous child with neural tube defect or family history of neural tube defects), 4 mg of folic acid supplementation is recommended daily.
RDS
Respiratory distress syndrome (RDS) is also known as hyaline membrane disease (HMD) and is a condition that causes infants to need extra oxygen and assistance in breathing. It is one of the most common problems seen in premature infants; the more premature the baby, the higher the risk and the more severe the HMD. Many times HMD typically worsens over the first 48 to 72 hours after birth and then improves with treatment; more than 90 percent of babies with HMD survive. HMD occurs when there is not enough surfactant in the newborn's lungs. Surfactant is made by the cells in the airways and consists of phospholipids and protein. It begins to be produced in the fetus at about 24 to 28 weeks of pregnancy and is found in amniotic fluid between 28 and 32 weeks. By about 35 week's gestation, most babies have developed adequate amounts of surfactant. In healthy lungs, surfactant is released into the lung tissues to help lower surface tension in the airways and this helps keep the lung alveoli open. When there is not enough surfactant, the tiny alveoli collapse with each breath. As the alveoli collapse, damaged cells collect in the airways and this makes it even harder to breath. The newborn works harder and harder to breath with each breath, trying to re-inflate the collapsed airways. This vicious cycle can eventually lead to a build-up of carbon dioxide, eventual acidosis, and/or eventual physical exhaustion from trying to attempt to take breaths. The most common symptoms of HMD include difficulty breathing at birth that gets progressively worse, cyanosis, flaring of the nostrils, tachypnea, grunting sounds, and chest retractions. Chest radiographs will reveal a characteristic "ground glass" appearance". Treatment of HMD consists of placing an endotracheal tube, supplemental oxygen, continuous positive airway pressure (CPAP), and inhaled surfactant replacement with artificial surfactant. This treatment has been shown to reduce the severity of HMD and is most effective if started within the first 6 hours of birth. Artificial surfactant comes as a powder that is mixed with sterile water and given through the ET tube.
A woman brings in her exclusively breast-fed, 7-month-old male infant for a routine check up. You see a well-fed, African-American boy with pigeon breast, depression along the line of diaphragmatic insertion into rib cage, and costochondral thickening that looks like a string of beads. On an X-ray the bones are translucent, and the skull bones are thinning. Question What is the most likely diagnosis?
Rickets
In the winter, an 11-month-old infant presents with a 2-day history of vomiting, diarrhea, and fever. His temperature is 104° Fahrenheit. Clinically, he is significantly dehydrated; his white blood cell count is 5400 cells/mm3 with a normal differential. His stool and urine are negative for white blood cells. Question What is the most likely cause of gastroenteritis in this child?`
Rotavirus A viral etiology is suspected in a patient with a normal white blood cell count. In the 1st 2 years of life, especially in the winter months, rotavirus is a common cause of gastroenteritis. Epidemics are not uncommon; therefore, rotavirus vaccinations are now considered standard at 2, 4, and 6 months of age.
A 2-day-old infant is found to have erythematous patches with 1 - 2 mm yellow pustules scattered all over his body on day 2 of his hospital stay. He is a full-term infant delivered via spontaneous vaginal delivery, without complication. His mother received regular prenatal care. He is feeding well and has had several wet diapers and 2 meconium stools. His vital signs have been normal since delivery. On exam, he is alert and awake. He has no sign of jaundice; there is no murmur, and his lungs are clear.
Routine monitoring This is a healthy newborn with erythema toxicum, which is a benign newborn rash. Lesions normally appear within the initial few days of life. Palms and soles are normally spared, and the rash can vary from generalized coverage to several cluster sites. The cause of erythema toxicum is unknown.
A 28-year-old G2P2 woman has just delivered a term male infant via normal spontaneous vaginal delivery. There was spontaneous rupture of the membranes 2 hours prior to delivery. Meconium stained amniotic fluid and thick particulate meconium was noted. The infant is brought under the radiant warmer where he appears peripherally cyanotic. He is crying and moving vigorously, and his heart rate is 160 beats per minute. Question What is the most appropriate next step in the resuscitation of this infant?
Routine neonatal evaluation since infant is vigorous
An 8-month-old male infant presents with rashes over the scalp and eyebrows. Physical examination shows a dry, scaly, and crusting lesion over the scalp, eyebrows, and nape area. He is comfortable, so his mother presumed that it was not itchy at all. He has been breastfed up to the present, and he started solid food at about 5 months old. There are no other signs and symptoms noted. Bowel movement and urination are normal. Developmental milestones are consistent with age. What is the most likely diagnosis?
Seborrheic dermatitis
A 29-year-old married graduate student in history, is in the fifth month of her first pregnancy. She is concerned about congenital malformations of her unborn child. Which of her following blood tests will have the highest predictive potential of a significant congenital malformation in her child?
Serum alpha-fetoprotein Explanation An elevation of her serum alpha-fetoprotein level is suggestive of and consistent with anencephaly
Prader-Willi syndrome
Small infants with hypogonadism. Small hands and feet. almond eyes, MR. Short stature
A 2-month-old male infant is brought by his mother for his 2 month well baby assessment. He had a completely normal birth history and has been growing well. The mother nursed him for about 3 weeks and then switched to a cow milk based formula after she developed nipple soreness. He took the formula well but a week later became very fussy, crying nonstop for more than 3 hours a day, usually in the evening. He does this just about every day according to mom. The crying does not seem to be related to feedings, and there is no vomiting or diarrhea. He has not been sick or congested and has had normal stools and wet diapers. He does seem gassier during these crying episodes, and he is inconsolable despite holding and rocking. The mother also has 2 toddlers at home and is becoming very frustrated and anxious. His vitals on exam are normal, as is the rest of his physical examination. Question What is most appropriate management for this infant?
Supportive Colicky infants cry excessively (more than 3 hours per day, more than 3 days per week and for more than 3 weeks) without any identifiable need. It occurs in all socioeconomic, racial, and ethnic groups with no sex preference. Colic begins typically at 2 weeks of age, peaks at 6 weeks, and usually resolves completely by 16 weeks. Crying spells are episodic and unrelated to feeding with a diurnal pattern; crying is increased in the evening and night. Such infants are inconsolable for long intervals and cry with extreme intensity. They draw up their legs, have tense abdomens, arch their backs, and become 'gassy,' suggesting a GI etiology. However, aerophagia or swallowing of air will occur with excessive crying and the presentation of aerophagia and gas does not coincide with the timing of colic, thus the excessive crying accompanying colic usually leads to aerophagia and subsequent gas. It is believed to be multifactorial with behavioral, social, and neurodevelopmental components. Diagnosis is made by history along with a normal physical exam in a healthy and normally growing infant. Appropriate management should be directed toward supportive interventions, such as recommendations to simulate the fetal environment with tight swaddling, rapid swinging or juggling, non-nutritive sucking, and steady white noise. Holding for prolonged periods has been shown to decrease the intensity but not the duration of crying.
Which of the following diseases has a clinical picture of ganglioside accumulation with hyperacusis, later seizures, and death in early childhood
Tay sachs
A 6-week-old male infant presents with a 4-day history of cough and nasal congestion. According to his mother, he occasionally has a bluish tint around his lips while sleeping. There is no history of fever. His older siblings have an upper respiratory infection. The patient's appetite has been decreased somewhat, mostly due to the copious nasal secretions; however, he has been maintaining a normal urine output. He was delivered pre-term at approximately 34 weeks gestation. He had mild respiratory distress syndrome, spending 2 days on a ventilator in the neonatal intensive care unit (NICU). He went home in 10 days and has done well since. He has had no immunizations. A physical exam reveals an infant in mild respiratory distress, respirations of 52/min, with slight intercostal retractions. Temperature is 100.2 F with a HR of 130/min. Perioral duskiness is seen. Oxygen saturation at room air is 83%, and HEENT exam is otherwise normal. His chest exam shows coarse rhonchi and expiratory wheezes. Heart rate and rhythm are regular. No murmurs appreciated. Abdomen is soft and non-tender. Neurological is intact. Chest X-ray shows mild hyper expansion, but no consolidation. Nasal swab for respiratory syncytial virus (RSV) is positive. Question What is the most appropriate treatment?
Supportive and O2
Contraindications to breast feeding
TB in mother Galactosemia in infant HIV
Klinefelter syndrome
The Klinefelter syndrome is characterized by one or more X excess chromosome(s) in a male patient (XXY, XXXY, XXXXY). The majority (87%) is 47,XXY karyotype. During puberty, instead of masculinization, feminine characteristics are manifested (high pitched voice, gynecomastia, female pattern of pubic hair). Serum testosterone is low and high estradiol/ testosterone ratio. Urinary gonadotropin, FSH and LH, levels are high. Testes remain small; germ cells and Sertoli cells are absent; and Leydig cell function is impaired. Patients are usually taller than the average in their family. Severe behavioral problems and some degree of mental deficiency are common. The average IQ is about 90. Testosterone treatment leads to masculinization without changing infertility. The syndrome is an important cause of male hypogonadism and infertility...
Patent Ductus Arteriosus
The ductus arteriosus, a connection between the pulmonary artery and aorta, is present during fetal life; it typically closes in the first few days of life. When the ductus arteriosus remains patent, it may lead to symptoms depending on the size of the defect. Patients will have a continuous machine-like murmur; it is heard best at the left first and second intercostal spaces.
A 27-year-old woman who is 18 weeks pregnant states that her 3-year-old daughter was just diagnosed with erythema infectiosum (Fifth disease). An antibody test is ordered, and the woman is found to be seronegative. She is healthy and has no signs or symptoms of parvoviral infection. 2 weeks later, the test is repeated and the patient is IgM positive. With regard to the patient's fetus, what is the significance of this test result?
The patient should undergo serial fetal ultrasounds to monitor for the appearance of signs of hydrops fetalis. Erythema infectiosum, also known as Fifth disease (FD), is a common childhood exanthem caused by parvovirus B19. Spread by respiratory secretions, FD is often preceded by a prodrome of low-grade fever, malaise, pharyngitis, and coryza. FD is readily distinguished from other eruptions by a characteristic "slapped-cheek" rash. This presentation is notable for a bright red macular appearance that favors the malar surfaces, sparing the bridge, orbits, and mouth. Within 1-2 days, another rash develops; it is characterized by symmetric eruptions and blotchy areas that take on a reticular or lacy pattern. The rash may involve other areas of the skin, but most commonly evolves to the extremities and buttocks.
A 6-year-old male is brought to your clinic with complaints of high fever and a rash all over his face. The boy arrived in this country a week ago from his home in the Asian subcontinent. His mother states that he has a 4 to 5-day history of a cough and cold with a fever and suddenly developed a rash over his face today. She says that he had 3 vaccinations when he was an infant and none after that. On examination, the boy looks malnourished and very ill, with a 104 degree temperature. There was some congestion of the conjunctiva, and some red spots were observed inside his buccal cavity. The rash on his face was maculopapular. What can be said of this condition?
The rash on the face may spread to other parts of the body measles
A 3-month-old male infant presents for a routine evaluation. His mother states that the child is gaining weight and feeding appropriately and has been without fever, chills, dyspnea, or other abnormal objective signs. Upon physical examination, the examiner noticed a loud, harsh holosystolic murmur in the left third and fourth interspaces along the sternum that was associated with a systolic thrill. There were no other abnormalities. Question What is correct regarding this patient's diagnosis?
The smaller the defect is, the louder the associated murmur. Explanation This patient's presentation represents a ventricular septal defect (VSD). Congenital VSDs occur in various parts of the ventricular septum. The smaller the defect, the greater the gradient from the left ventricle to the right ventricle and the louder the murmur.
A 2.9 kg male infant is born to a 28-year-old woman. He is the couple's 1st child. The pregnancy and the delivery were uneventful. The infant is doing fine. However, at the routine neonatal baby check, you notice that the he has small ears, down-sloping oval eyelid openings, and a flat occiput. You send blood for karyotyping on suspicion of a genetic disorder, and you inform the parents accordingly. Refer to the image. What statement best describes the infant's condition?
There is a 1% risk of similar incidence in the patient's next offspring. Down syndrome is the most common autosomal trisomy. 95% of children with Down syndrome have 47 chromosomes with 3 number 21 chromosomes. Trisomy 21 occurs in 1 in 600 live births. The risk of having a child with extra chromosome 21 increases with advancing maternal age. This risk rises dramatically after age 35 years. Most children with trisomy 21 are born to women younger than 35 years of age, however, most women give birth prior to age 35 years. The mechanism for the increased incidence of trisomy 21 in fetuses of older mothers is not understood. The extra chromosome comes from the father in a small percentage of cases.
Pyloric Stenosis
This disorder usually begins between 2 and 4 weeks of age and rapidly becomes projectile after feeding. An olive sized mass can be felt upon deep palpation in the right upper abdomen, especially after the child has vomited. Typical signs and symptoms of congenital megacolon are failure to pass meconium followed by vomiting, abdominal distention, and reluctance to feed.
A male infant presents for his 2-week physical exam. On exam, you notice white plaques on the buccal mucosa and palate. When you try to remove the plaques, there are small punctate areas of bleeding. What is the most likely diagnosis?
Thrush
A 4-year-old girl presents with her mother to discuss treatment of her atopic dermatitis. She was diagnosed as an infant, but her case appears to be getting worse despite frequent lubrication with thick emollient creams and medium potency topical corticosteroid use. Question What second line treatment is a reasonable choice to replace her current regimen now that the disease has become more severe?
Topical immunosuppressive agents atopic dermatitis
A 19-year-old woman gives birth to an apparently healthy 8-pound female infant. During her first attempt at feeding, choking, coughing, and cyanosis occur. Historically, the mother had polyhydramnios during her pregnancy. What is the most likely explanation for the newborn's distress?
Tracheoesophageal fistula
The newborn nursery calls about a 4-hour-old term baby boy. He was born to a 31-year-old mother who was diagnosed as having some hydramnios during pregnancy; otherwise the prenatal history was normal. Apgar scores were 9 at 1 and 5 minutes and he transitioned well to the nursery until he began feedings. Shortly after nursing he began choking and coughing with mild perioral cyanosis. His nose and mouth were suctioned with excess secretions noted in his mouth. Desaturation and bradycardia occurs during these spells on pulse oximetry with some mild stiffening of his arms and legs. On exam, heart, lungs, vital signs and neurologic findings are all normal. Labs including electrolytes, arterial blood gas, and complete blood count all seem normal. Blood, urine, and CSF cultures are pending but look normal. EKG, EEG, and head ultrasound are normal. Chest x-ray shows marked air distention of the whole gastrointestinal tract. Based on these findings, what is the most likely diagnosis?
Tracheoesophageal fistula with esophageal atresia
A 3-month-old male infant presents with history of noisy breathing since birth; the noise is gradually increasing. There is no history of fever, cough, or running nose. Physical examination reveals a low-pitched, inspiratory wheeze; it is more prominent over the central airways and loudest over the trachea. Wheezing increases during crying, feeding, and when the infant is laid in supine position. There is no cyanosis, subcostal or intercostal retraction, or hoarseness of voice. Wheezing has not shown any response to bronchodilators. Question What is the most likely diagnosis?
Tracheomalacia
Trisomy 13
Trisomy 13 causes severe birth defects (e.g., CNS malformations, cleft lip, polydactyly, and mental retardation
A 16-year-old girl is very short for her age. She comes to your office for a physical examination. You notice that there is a reduced carrying angle at her elbow. You also notice that she has sparse body hair and a webbed neck. Some tests are run, and it is determined that she has the genotype 45X.
Turner Syndrome
Which of the following sex chromosome linked diseases has the clinical feature of short stature, streak gonads, and degradation of oocytes by 2 years of age?
Turner syndrome
Turner syndrome
Turner syndrome is characterized by an X0 genotype. In most cases, the missing X chromosome is paternal. More than 90% percent of embryos with this abnormality are aborted. Phenotypic females have infantile external genitalia, short stature (less than 5 ft/152cm), and webbed neck with low posterior hairline. The uterus is small and the characteristic "streak gonads" show fibrous tissue without germ cells. Primary amenorrhea is the rule with infertility. Unlike in normal aging, oocytes are degraded by 2 years of age. Cardiovascular abnormalities are common (coarctation of aorta, essential hypertension, dissecting aneurysm). Overall, patients treated with growth hormone and estrogen can have a normal life expectancy.
Which test can be used to diagnose varicella and herpes zoster?
Tzanck test
A 4-month-old infant presents with microcephaly, chorioretinitis, hepatosplenomegaly, petechiae, purpura, and jaundice. X-ray of the skull shows periventricular calcification. What culture study should you do to isolate the causative organism?
Urine CMV
An 18-month-old infant presents with a 1-day history of fever that is currently 101° F rectally. You symptomatically treat the patient and ask the mother to return if the condition worsens. 2 days later, the mother returns because the infant has developed small red spots that became bumps and are now blisters. The mother also noted that the infant was scratching the lesions. The majority of these lesions are on the thorax. Each vesicle resides on its own erythematous base.
Varicella
A previously healthy 4-month-old baby is found cold and blue by parents. The baby was fine an hour before when the mother had fed him. The pathologist finds no gross abnormalities at autopsy. Which of the following best describes the situation?
Viral and bacterial lung cultures showed no growth Explanation Case described above is a typical setting of sudden infant death syndrome (SIDS). Sudden Infant Death syndrome (SIDS) is the sudden unexplainable death of a baby under one year, which remains unexplained even after a thorough case investigation, including performance of a complete autopsy, examination the death scene and review of clinical history. Hence no bacterial or viral growth will be found on lung culture.
An 8-month-old female infant presents with a 2-day history of increasing irritability and decreased appetite. She has also had some diarrhea and low grade fever. On exam she is afebrile, very fussy, and hard to console; however, she appears alert and active. She lies with her hips and knees flexed, crying harder with any movement. A few petechiae are noted on her skin. Leg X-rays are done to look for a possible fracture that shows a pencil-thin cortex and a ground glass appearance of the bones. Further history reveals that she has been given evaporated milk since birth to save money, and she has not yet been started on solids. Question What vitamin deficiency would most likely cause this infant's symptoms?
Vitamin C Vitamin C is involved in cellular oxidation through reduction reactions; it is required for the normal growth and maturation of cells. It helps form the ground substance among cells of the capillary walls, collagen, and osteoid tissue. Vitamin C is abundantly present in citrus fruits, spinach, cauliflower, liver, and kidney. Scurvy is characterized by pinpoint spots on the skin (especially on the thighs and legs) called petechiae, spongy gums, poor healing of bruises, joint pain, bleeding from mucous membranes, and thin hair. It can occur in infants whose mothers have a dietary deficiency in vitamin C and also in infants fed unsupplemented evaporated milk. Infants deficient in the vitamin may present with fever, diarrhea, appetite loss, poor weight gain, and protein depletion. Irritability, generalized tenderness causing pseudoparalysis, frog position of the legs, peripheral edema, swelling of gums, scorbutic beads in the ribs, and petechial hemorrhages can also be seen. Bone involvement is typical in infantile scurvy. Radiographic changes include ground glass appearance of the bones, pencil-thin cortex, a zone of calcified cartilage at the metaphysis, and a zone of rarefaction proximal to this. Administration of 100 to 200 mg/day of ascorbic acid for 1 week will promote quick healing. The daily requirement of vitamin C for infants 7 to 12 months-old is 50 mg. Seizures, irritability, peripheral neuritis, dermatitis, and microcytic anemia can be seen with a deficiency of vitamin B6, or pyridoxine. It is a vitamin found in yeast, rice polishings, and cereals. It serves as a coenzyme in the metabolism and transfer of amino acids. Primary deficiencies are rare, but secondary deficiencies due to malabsorption, diarrhea, or certain drugs like isoniazid can occur.
A 4-month-old female infant has been gaining weight well and achieving normal milestones. She was a full-term infant born via vaginal delivery without complication. Her past medical history is significant only for a mild URI the previous month, and she is current with her vaccines. She has been exclusively breastfed since birth. Her mother eats a well-rounded diet that includes meat and dairy. Question What supplementation does the infant require?
Vitamin D Breastfed-only infants require vitamin D supplementation to help prevent rickets, infantile tetany, and osteomalacia. The other vitamins are transferred in adequate quantity through breastmilk. Infant formula includes vitamin D. Children and adults get vitamin D through fortified milk, margarine, and fish liver oils. Vitamin D can also be obtained through exposure to sunlight or other ultraviolet sources.
A premature infant presents with jaundice and a hemoglobin level of 8 g/dL. The peripheral blood film reveals reticulocytosis; a vitamin deficiency is suspected. Question What is the most likely diagnosis?
Vitamin E deficiency Vitamin E deficiency may cause a hemolytic anemia in premature infants. Laboratory investigations reveal low plasma tocopherol levels, a low hemoglobin level, reticulocytosis, hyperbilirubinemia, and creatinuria. Causes of vitamin E deficiency in premature infants include limited placental transfer of vitamin E and the resultant low levels at birth; this is combined with its relative deficiency in the infant diet. Dietary sources for older children and adults include wheat germ, vegetable oils, egg yolk, and leafy vegetables.
bath time safety
Water heater maximum temperature should be set no higher than approximately 120°F to prevent scalding
Mongolian spot
blueish spots (look like bruises) Usually resolve by a few years of age.
Gastroschisis
bowel floats freely in amniotic fluid. No covering. Dark red, stiff mass
Croup
caused by the parainfluenza virus, is an upper respiratory infection with a characteristic brassy cough, hoarseness, and respiratory stridor. The typical clinical picture has a variable onset, from a progressive fever, sore throat, and cough for a couple of days to a sudden midnight onset. The severity varies from stridor only (with mild agitation) to stridor at rest to airway obstruction. Treatment involves humidified air, inhaled or oral corticosteroids, and nebulized racemic epinephrine.
Bronchiolitis
caused by the respiratory syncytial virus (RSV) and other respiratory viruses (influenza, parainfluenza, rhinovirus), is a severe infection in infants that can progress to respiratory failure. Premature infants and infants with heart and lung disease have severe forms of bronchiolitis. The patients have wheezing, rales, prolonged expiratory phase, rhinorrhea, nasal congestion, fever, tachypnea, and respiratory distress. Antigen testing for RSV from nasal secretions provides a rapid diagnosis. Ribavirin administered through aerosol may shorten the clinical course. Polyclonal and monoclonal antibodies are used for prophylaxis in wintertime.
A newborn baby with some pyrexia developed a sudden onset of seizures and gradual depressed level of consciousness, on the tenth day of birth, and was brought to the neonatal intensive care unit of the hospital. The delivery had been uneventful after a prolonged rupture of membranes. The child seemed all right at birth. The mother reported normal pregnancy except that she had some blisters around the genital area with some pain during micturition towards delivery time. An EEG in the baby showed fronto-temporal focal abnormalities. What is the most common cause of this condition?
caused by type II virus (herpes)
You ware evaluating a 5-year-old girl at an annual well-child visit; she is accompanied by her mother. Although there were no acute symptoms, you note that she appears somewhat ill-kempt; her mother had multiple bruises in varying stages about the arms and face. The child lives in a deeply wooded rural area with her mother and stepfather. Past history is significant for a fractured right humerus at age 3, which was attributed to a fall from a tree, and a fractured right radius 5 months ago, which was also attributed to a fall. Growth and development have been normal. Vital signs are normal. Examination reveals multiple 6 to 10 mm, well-demarcated, circular lesions in various stages about the forearms and lower legs. Some are erythematous and blistered, some are deeply ulcerated, and some display eschars. Multiple hyperpigmented macules at the same locations are also present. The mother has no explanation for these lesions. Question What is the most likely explanation for these lesions?
cigarette burns
Acne
comedones present
Psoriasis
common skin disorder during the initial 2 years of life. Girls are more frequently affected, and 50% have a family history. It is characterized by erythematous papules that coalesce to form plagues with irregular borders that appear as silvery or yellow-white scale. Their removal may induce a pinpoint bleeding that is called Auspitz sign. Lesions may be seen anywhere, but they are most often found in the scalp, knees, elbows, umbilicus, and genitalia. Diagnosis is mainly clinical. Treatment depends on the age of the child, sites of involvement, and extent of the disease. Tar preparations may be added to the daily bath. Occasionally, sunlight may have an adverse rather than beneficial effect. Salicylic acid may help remove the scales. Topical corticosteroids may be effective, but they should be used with caution.
omphalocele
covered with membrane
Cow's milk allergy
d/t beta-lactoglobulin
A 2.9 kg male infant is born to a 28-year-old woman. He is the couple's 1st child. The pregnancy and the delivery were uneventful. The infant is doing fine. However, at the routine neonatal baby check, you notice that the infant has small ears, down-sloping oval eyelid openings, and a flat occiput. He also has broad, short-fingered hands. You send blood for karyotyping on suspicion of a genetic disorder, and you inform the parents accordingly. Refer to the image. What feature could have been associated with this disorder?
dueodenal atresia down
Achondroplasia
dwarfism (short limbs)
Scabies
extremely itchy (esp at night). tunnels/ wave like pattern
A mother presents with a 5-week-old male infant for excessive vomiting He has been having consistent episodes of projectile vomiting 30-40 minutes after feeding and is not gaining weight. The infant has no significant past medical history, although the mother mentions that she began renovating their Victorian era house while pregnant. He has a 3-year-old brother, who is healthy and has no significant past medical history. Pyloric stenosis is suspected given the infant's projectile vomiting. What has congenital pyloric stenosis been most commonly associated with?
first born male child
During the examination of the infant, either for a well baby checkup or if ill, it is important to listen carefully to the infant's breathing and the quality of the cry. What might a shrill high-pitched cry indicate?
increased ICP
What can be used to close patent ductus arteriosus (PDA) of neonates?
indomethacin
Prader-Willi syndrome
infants are small of gestational age and exhibit hypogonadism, small hands and feet, almond-shaped eyes, and hypotonia Mental retardation, short stature, polyphagia, and eventually obesity Diabetes and Pickwickian syndrome are common complications
Human milk is nutritionally adequate up to 6 months
introduce solid food at 3-6mo
Neurofibromatosis
irregularly shaped 2-3cm hyperpigmented lesions. freckles
Tetrology of Fallot (ToF)
is the most common cyanotic congenital heart disease and accounts for about 10% of all congenital heart disease. In ToF, a ventricular septal defect is present, as is an obstruction to right ventricular outflow. The other 2 characteristics include right ventricular hypertrophy and an overriding aorta. The degree of right ventricular outflow obstruction determines the severity of symptoms. Most patients experience episodes of cyanosis, and some may have delayed development or retarded growth. Diagnosis is typically made with imaging, such as echocardiogram. Definitive total corrective treatment is usually achieved between birth and age 2. It involves closure of the ventricular septal defect and removal of the obstruction to right ventricular outflow. Since pulmonic stenosis is the etiology, pulmonary valvulotomy will relieve the right ventricular outflow.
As compared to mature human milk, cow's milk contains:
less lactose
Fragile X syndrome
male pts. long narrowed facies, large protruding ears and jaw, flat feet, hyperextsnible fingers. large gonads, autism/ MR, mitral valve prolapse. Female carriers with mild learning problems
After 22 hours of difficult labor, a 25-year-old primigravida delivers a full-term female neonate. Both baby and the placenta demonstrated green staining. The USG at 20 weeks showed normal development for age; major organs were identified and normal in size for the age. Amniotic fluid volume was normal. An alpha-fetoprotein level was in the normal range. What condition is most likely to explain the respiratory distress that develops in this neonate?
meconium aspiration
A 2-week-old female infant presents as a post treatment for yellow skin and eyes and poor eating. Symptoms began when she was 3 days old. A CBC showed red blood cell destruction while a second test of blood work revealed elevated serum bilirubin. After 2 days of phototherapy and hydration treatment, the symptoms resolved. What is the most likely diagnosis?
newborn jaundice Newborn jaundice is a condition of yellowish skin color during the newborn period. This results from the immaturity of liver function combined with the destruction of red blood cells present in the newborn infant. The jaundice usually appears between the 2nd and 5th days of life and clears by 2 weeks. Symptoms include yellow color of the skin (jaundice), poor feeding (may be present), and lethargy (may be present). An elevated serum bilirubin level will be present. Usually treatment is unnecessary. Sometimes artificial lights (called bili lights) are used on infants whose levels are very high, or on premature infants. The jaundice resolves without treatment within 1 to 2 weeks.
A 5-year-old boy presents with frequent right head pain. A neurological examination is normal. What is the most likely etiology?
otitis media
A newborn infant has been identified with cytomegalovirus (CMV) infection shortly after birth. His mother had been known to be CMV-seropositive and had been followed carefully during her pregnancy. Prenatal ultrasounds showed some placentomegaly and the mother received hyperimmune globulin. Though the newborn has done well, evaluation and exam has revealed mild hepatomegaly, elevated direct bilirubin, mild jaundice, and thrombocytopenia. In discussing the possible long-term sequelae for this infant, which of the following associated finding is the most likely predictor of poor neurologic and developmental outcome?
placentomegaly
Sturge-Weber
port wine stain and seizures
Foreign body aspiration
presents with complete or partial airway obstruction localized at a different location in the respiratory tract. The acute presentation after a choking episode provides the diagnosis; however, without a witnessed episode of choking, clinical presentation may take a couple of days after the aspiration. Tracheal obstructions present with acute asphyxia in total obstruction and with stridor in partial obstruction. Localized signs, such as wheezing, rhonchi, and decreased breath sounds, are found in lower respiratory tract obstruction. The treatment of choice is extraction with rigid bronchoscope.
A 5-day-old male infant has subtle, unusual facial features (i.e., a triangular face, hypertelorism, and down-slanting eyes). He also has a webbed neck and low-set ears. Suspecting a congenital disorder, you order a complete work-up, including a CBC, coagulation profile, cardiac evaluation, karyotyping, and mutation analysis. PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations are detected. Echocardiography detects a cardiac defect. Question What is most likely to be found on echocardiography?
pulmonary stenosis This neonate most likely has Noonan syndrome (NS). Pulmonary stenosis is the most common cardiac defect in this condition. Noonan syndrome is a sporadic, or autosomal dominant, congenital disorder with typical phenotypical features that may not be visible to the casual onlooker. The most common facial features include hypertelorism and low-set, backward-rotated ears with a thick helix. The philtrum is deeply grooved in more than 90% of cases. Congenital cardiac defects, bleeding disorders, mental retardation, webbed neck, and a short stature are other features. Pulmonary valve stenosis is the most common cardiac defect and is seen in 50% of those affected. Other cardiac findings include atrial and/or ventricular septal defects and cardiomyopathies. PTPN11 mutations occur in 50% of affected persons. SOS1 and KRAS mutations are other causes, but the absence of a mutation does not rule out NS.
Ehlers-Danlos syndrome
refers to a collection of conditions typically characterized by hyperextensibility; joint laxity, subluxations, and dislocations are frequent. Abnormally extensible skin can also be seen. The vascular subtype (ype IV) is the most severe because large arterial vessel rupture can occur spontaneously
Infants with IgE mediated allergy to cow's milk protein usually do well on....
soy forumula
Case A 5-day-old term male infant with a birth weight of 3 kg presents with jaundice. He is exclusively breast fed. Physical examination reveals moderate icterus, mild pallor, and a hepatomegaly of 2.5 cm below costal margin. He is accepting feeds well and is active. Blood examination shows serum bilirubin 20 mg/dL, direct reacting bilirubin 1.2 mg, and Hemoglobin 13.5 gm. Reticulocyte count is 6%. Peripheral blood smear shows anisocytosis and poikilocytosis. Coomb's test is negative. Question What is the next step in management of this infant?
start phototherapy
Newborn developmental milestones
symmetrical movement of all 4 limbs cries responds to being picked up startles to loud noises looks at faces responds to light
Patent ductus arteriosus
the characteristic murmur of PDA is described as a rough, machinery murmur that is best heard at the 2nd left intercostal space. Signs of moderate-to-severe PDA include failure to thrive, tachypnea, diaphoresis with feeding, and bounding pulses.
A 3-month-old female infant presents with a maculopapular rash on her trunk. You diagnose exanthema subitum, caused by human herpesvirus 6. Which of the following phrases correctly describes this disease?
there is a rapid onset of high fever Explanation A high fever lasting a duration of three to four days and which begins quickly is characteristic of exanthema subitum, more commonly referred to as roseola infantum. Once the temperature returns to normal, any rash that appears will usually disappear within a 24-hour time period. The cause of this disease is unknown, but sometimes convulsions do occur, and it is contagious.
Tuberous sclerosis
tumors
Epiglottitis
which is caused by Haemophilus influenzae, is characterized by inflammation and rapidly progressive edema of epiglottis and contiguous tissue. Children ages 2 to 7 years who missed some immunizations are prone to this infection during winter. Drooling, hoarseness, high fever, sore throat, the characteristic 'sniffing dog' position, and the rapidly progressive respiratory obstruction make the diagnosis a clinical one. Immediate intubation and intravenous ceftriaxone or cefuroxime are recommended for treatment.
