Part 7 (1661- 1694 ) (1530_ 1784) Pogba KH 5

26) A 5-year-old child develops an earache, but her mother is too busy to take her to the pediatrician. Two weeks later, the child still has not improved and now has a painful, swollen, red area behind the pinna. At this point, the child is taken to the emergency department, where the physician additionally notes the presence of fever and a creamy discharge in the ear canal. Which of the following is the most likely diagnosis?

27) A 3-day-old newborn is ready to be discharged from the neonatal nursery, when his mother reports that a rash has appeared on his abdomen and chest. He otherwise appears healthy. He has no fever and no risk factors for infection. Examination reveals a nontoxic neonate with erythematous papules and vesicles surrounded by patches of erythema. Microscopic evaluation of the pustules reveals numerous eosinophils. What is the most likely diagnosis?

28) An athletic 12-year-old boy complains of left knee pain when he runs and plays sports. The pain resolves when he rests. He has otherwise been well. His physical examination is normal, except for swelling and increased prominence over the left tibial tubercle. A radiograph of the left knee is normal. Which of the following is the most likely diagnosis?

30) A 14-month-old male infant presents to the emergency room with a chief complaint of high grade fever with no response to antipyretic therapy. This illness started suddenly with the abrupt onset of fever early yesterday morning. He then developed a severe cough and increased work of breathing. The mother reports that he is frequently ill. He was hospitalized 2 months ago for pneumococcal pneumonia. On examination: PR: 145/min; RR: 55/min; BP 100/60mm Hg; oxygen saturation 91%; weight 7 kg (154 lbs). He is listless, tired, and small for age. Both ear canals contain purulent drainage. An immunologic work-up is done and found to have markedly elevated IgM, undetectable IgG and IgA with diminished total B-lymphocytes and neutrophils. Which of the following is the most likely diagnosis?

31) A 4-year-old girl is brought to the office due to easy bruising and a rash for the past 3 days. She had an upper respiratory infection approximately two weeks ago. She has never had palpable bruises, hemarthroses, or deep muscle bleeding in the past. She has 2 older brothers, neither of which has had bleeding symptoms before. Her family history is negative for any bleeding disorders. Her vital signs are normal. Physical examination reveals a diffuse petechial rash on her neck, trunk, extremities and groin. There is no hepatosplenomegaly. Nonpalpable ecchymoses of varying ages are present on the shins and arms. The laboratory findings are as follows: Hemoglobin 12 .8 g/dl, Hematocrit 38.5%, WBC 6,000/mm3, Platelets 5,000/mm3, PT 12.0 sec, PTT 30 sec. Peripheral smear shows normal morphology of the red and white blood cell lines. The platelets are reduced in number, and majority of them are increased in size. What is the most likely diagnosis?

32) On the second day after birth, a mother reports that her newborn infant does not move his left hand and his left eyelid droops. On examination, you confirm the findings of the mother and elicit myosis in the left eye. Pregnancy was uneventful, and delivery uncomplicated. Which of the following is the most likely diagnosis?

33) During a physical examination for participation in a sport, a 16-year- old girl is noted to have a late apical systolic murmur, which is preceded by a click. The rest of the cardiac examination is normal. She states that her mother also has some type of heart “murmur” but knows nothing else about it. Which of the following is the most likely diagnosis?

34) A 4-year-old boy is brought to the office for a routine exam. He has a small face, upslanting palpebral fissures, a speckled iris, and a simian crease. Auscultation reveals a loud P2. His mother informs you that he has trisomy. What is the most likely congenital heart disorder in this patient?

35) An 8-year-old boy is brought to the pediatrician with a rash on his abdomen. The mother first noticed the rash about 3 weeks ago. The boy has no fever or other symptoms. On examination, there is a well-circumscribed, circular, erythematous, scaly annular patch on his abdomen. The border of the skin lesion is raised and well defined. Which of the following is the most likely diagnosis?

36) A 16-year-old arrives to your office soon after beginning basketball season. He states that he has had progressive pain in his knees. A physical examination reveals, in addition to tenderness, a swollen and prominent tibial tubercle. Radiographs of the area are unremarkable. Which of the following is the most likely diagnosis?

37) A 3-year-old girl is brought to the physician's office for a routine physical examination. Her facial appearance, short stature, short webbed neck and widely spaced nipples are suggestive of a chromosomal abnormality, which is subsequently confirmed by karyotyping. What is the cardiovascular anomaly that is most likely to be present in this child?

38) A neonate develops severe cyanosis that begins within minutes of birth. Blood drawn one hour after birth shows metabolic acidosis with respiratory acidosis. A chest x-ray film shows a narrow base to the great vessels and the heart resembles an egg on its side. ECG is normal. Which of the following is the most likely diagnosis?

39) A 13-year-old boy is seen for right knee pain that has persisted for the past 2 months despite the use of over-the-counter analgesics. His mother states that he has been limping since he started to have the pain. The pain is of insidious onset, but its intensity sometimes suddenly increases. On physical examination, the boy is obese; his weight is higher than the 90th percentile. Flexion of the right hip causes marked outward rotation and reproduces the pain. Internal rotation of the right hip is limited, and the right leg is slightly shortened compared with the left leg. Which of the following is the most likely diagnosis?

40) A 2-week-old male infant is brought to the office by his mother due to fever and vomiting for the past two days. He appeared normal until two days ago. He is being breastfed. He was born at 32 weeks gestation and weighed 2.7kg (6 Ib) at birth. On examination, he is ill-looking, lethargic, and febrile. His abdomen is distended, bowel sounds are absent, and stool is guaiac-positive. An abdominal x-ray demonstrates pneumatosis intestinalis. What is the most likely diagnosis of this patient?

42) The parents of a 5-year-old boy come to the physician concerned about their child's recurrent leg pains. The boy has been complaining for several weeks about pain in both legs, usually occurring soon after going to bed. He derives relief from rubbing his legs and knees. He does not limp and is able to participate in sports activities. Which of the following is the most likely diagnosis?

43) A young black male with sickle cell trait is preparing for his travel to West Africa from North America. While obtaining his visa, he is advised by the health inspector to obtain some immunizations, although his chances of getting a certain tropical disorder are low. What disease has the sickle cell trait been shown to convey protection against?

44) A 5-year-old boy is brought to the emergency department by his mother. One week ago, he developed a low grade fever followed by persistent bouts of coughing that last 20-30 minutes each. The coughing spells are severe, unresponsive to antitussive medications, and appear to worsen with eating and drinking cold liquids. On physical examination, there is subconjunctival hemorrhage and extensive subcutaneous emphysema over the anterior chest. What is the most likely organism responsible for this child's illness?

45) A one-week-old infant is admitted to the neonatal intensive care unit due to vomiting, abdominal distension, and poor feeding. His vomitus is bile-stained. There is frank blood in his stools. He has been formula- fed since birth. Physical examination shows diminished bowel sounds. Abdominal x-rays reveal dilated loops of bowel with intramural air Laboratory studies show elevated WBCs. What is the most likely diagnosis?

46) A child has a 2-week history of spiking fevers, which have been as high as 40°C (104°F). She has spindle-shaped swelling of finger joints and complains of upper sternal pain. When she has fever, the parents note a faint salmon-colored rash that resolves with the resolution of the fever. She has had no conjunctivitis or mucositis, but her heart sounds are muffled and she has increased pulsus paradoxus. Which of the following is the most likely diagnosis?

47) In the newborn nursery it is noted that a child has uneven gluteal folds. Physical examination of the child's hips reveals that one of them can be easily dislocated posteriorly with a jerk and a "click," and returned to normal position with a "snapping" sound. The family is concerned because a previous child had the same problem. Which of the following is the most likely diagnosis?

48) A cyanotic newborn is suspected of having congenital heart disease. He has an increased left ventricular impulse and a holosystolic murmur along the left sternal border. The ECG shows left-axis deviation and left ventricular hypertrophy (LVH). Which of the following is the most likely diagnosis?

49) A 3-day-old infant with a single second heart sound has had progressively deepening cyanosis since birth but no respiratory distress. Chest radiography demonstrates no cardiomegaly and normal pulmonary vasculature. An ECG shows an axis of 120°and right ventricular prominence. Which of the following congenital cardiac malformations is most likely responsible for the cyanosis?

50) A 2-year-old child is brought to the office due to vomiting. He is recovering from an upper respiratory infection, which was treated by his mother with over-the-counter aspirin. On examination he is irritable, lethargic, agitated and uncooperative. His height, weight and head circumference are at the 50th percentile. The pupils are equal and have a sluggish reaction to light. The sclera is non-icteric. The neck is supple and without adenopathy. The abdomen is flat, with normal bowel sounds. The lab findings are as follows: Serum bilirubin Normal, Serum ASAT and ALAT Increased, Serum ammonia Increased, Prothrombin time Prolonged. A CT scan of the brain shows cerebral edema. CSF analysis is normal, except for increased pressure. What is the most likely diagnosis?

51) A 1-month-old baby boy has bloody diarrhea. No infectious agent is identified, but the baby is found to be profoundly thrombocytopenic. The baby is also noted to have a skin rash, and a dermatologist diagnoses eczema. By three months of age, the baby begins to develop recurrent respiratory infections. If this child survives until adolescence, he is at particularly high risk of developing which of the following?

52) An ill-appearing 2-week-old baby girl is brought to the emergency room. She is pale and dyspneic with a respiratory rate of 80 breaths per minute. Heart rate is 195 beats per minute, heart sounds are distant, a gallop is heard, and she has cardiomegaly on x-ray. An echocardiogram demonstrates poor ventricular function, dilated ventricles, and dilation of the left atrium. An ECG shows ventricular depolarization complexes that have low voltage. Which of the following is the most likely diagnosis based on this clinical picture?

53) A newborn infant has mild cyanosis, diaphoresis, poor peripheral pulses, hepatomegaly, and cardiomegaly. Respiratory rate is 60 breaths per minute, and heart rate is 250 beats per minute. The child most likely has congestive heart failure caused by which of the following?

54) A healthy 7 -year-old Caucasian boy is brought to the office by his mother because of fever and pain in the ear. He has had these symptoms for the past three days. He has no other medical problems. Family history is not significant. He takes no medication. His temperature is 38.3 C (101 F). Otoscopic examination reveals an ear discharge, and the tympanic membrane is immobile with insufflation. He has a boil just behind the pinna of the involved ear. His WBC count is 12,000/mm3. He is diagnosed with otitis media. Which of the following is most specific for the diagnosis of otitis media?

55) A 3 year old male has sudden onset of dry cough with a small amount of bright red blood produced when he coughs. He has had no fevers, runny nose, or vomiting. In the Emergency Department a chest x-ray shows hyperexpansion of the right lung and clear lung fields. Which of the following is the most likely etiology of this child's symptoms?

56) A female neonate is undergoing an examination after birth. She was born to a 33-year-old primigravid mother at term via a normal spontaneous vaginal delivery. The pregnancy was uncomplicated, except for a positive maternal group B Streptococcus culture at 36 weeks' gestation, for which the mother received penicillin during labor. The infant's APGAR scores are 8 at 1 minute and 9 at 5 minutes. The mother notices that the infant has prominent labia and a dull pink vaginal epithelium. Which of the following is the most likely cause of the appearance of the infant's genitalia?

57) A 2-year-old boy presents to the emergency department with fever, irritability, and a skin rash 5 days after the onset of an upper respiratory infection. On examination, his temperature is 39.8 C (103.6 F), and his pulse is 94/min. There is an erythematous skin rash that involves his face, chest, back, and upper extremities. His skin is very tender to touch. Rubbing the skin causes separation of the epidermal layer. Which of the following is the most likely diagnosis?

58) A 9-year-old girl is brought by her sister to her pediatrician with the complaint of severe, intermittent headaches for the past several months, one of which resulted in her going to the ER. The physical examination today, including a careful neurologic examination, is normal. The headache is diffuse, throbbing, lasts several hours, and is not associated with vomiting or other symptoms. The child cannot feel the headaches coming on; they appear on all days of the week; and usually the headaches are gone when she awakens from a nap. The child reports that she is doing well in school, plays clarinet in the school band, and has “lots of friends.” The sister is not sure, but she thinks their father, who lives in another state, may have headaches. The most likely explanation for this girl’s headache is which of the following?

59) Examination of the cerebrospinal fluid (CSF) of an 8-year-old, mildly febrile child with nuchal rigidity and intermittent stupor shows the following: WBCs 85/μL (all lymphocytes), negative Gram stain, protein 150 mg/dL, and glucose 15 mg/dL. A computed tomographic (CT) scan with contrast shows enhancement of the basal cisterns by the contrast material. Which of the following is the most likely diagnosis?

60) A full term neonate is being evaluated following an uncomplicated pregnancy and delivery on day 1 of life. He weighs 3.6kg (8ib), is 20in (50.8cm) tall, and has a head circumference of 13.5in (34cm). His physical examination is unremarkable. Initial laboratory data is shown below. Complete blood count: Hemoglobin 20g/L, Hematocrit 73%, Platelets 200,000/mm3, Leukocyte count 5,500/mm3, Neutrophils 56%, Eosinophils 1%, Lymphocytes 33%, Monocytes 10%. Which of the following findings is most likely to be detected in this neonate?

61) An 8-year-old boy is brought to the emergency department with a head injury. He hit his head on the ground when he fell off his bicycle. He was not wearing a helmet at the time. There was no loss of consciousness. He vomited 2 times after the accident and now complains of a right-sided headache and inability to hear with his right ear. There is no photophobia or diplopia. On physical examination, his blood pressure is 110/72 mm Hg, pulse is 104/min, and respirations are 22/min. He is alert and oriented and responds appropriately to questions. There is a round hematoma on the right side of his head. Bloody drainage is noted from his right ear. Which of the following injury is most consistent with these findings?

62) A 16-year-old girl comes to the physician's office because she has not begun menstruating yet. Both her mother and an older sister started menstruation at age 12. She takes no medication and denies strenuous exercise or excessive dieting. Her height is at the 50fh percentile for age; her weight is at the 60fh percentile. Both her breast and pubic hair development are at Tanner stage 4. Pelvic ultrasonography reveals a normal uterus and ovaries. Which of the following is the most likely diagnosis?

63) A 12-year-old boy presents with a 2-month history of recurrent headache and deteriorating school performance. Neurologic examination is unremarkable except for bitemporal deficits in his visual field. X-ray and MRI of the head are performed. X-ray films show calcifications in the suprasellar region, while MRI images reveal a multicystic tumor displacing the optic chiasm. The patient undergoes neurosurgical operation for excision of the tumor. During the procedure, the surgeon notices that the cystic cavities contain a "machinery oil"-like fluid. Which of the following is the most likely diagnosis?

64) A 5-year-old female child is brought to the emergency department due to fever, chills and abdominal pain. She has been complaining of burning micturition and abdominal pain for the last 2 days. Her temperature is 102 F (38.9C), respirations are 20/min, pulse is 130/min, and blood pressure is 90/60 mmHg. Physical examination reveals costovertebral angle tenderness. Urine analysis shows pyuria, significant bacteriuria, WBC casts, positive nitrite, and esterase. What is the most likely cause of this condition in children?

65) A 10-year-old girl is brought to the office for a follow-up visit. She has been previously diagnosed with vesicoureteral reflux, and has had multiple episodes of acute urinary tract infections in the past. Intravenous pyelography (performed on her last visit) reveals bilateral focal parenchymal scarring and blunted calyces. What is the most likely diagnosis?

66) A patient presents to the emergency center with a 6-hour history of fever to 38.9C (102F). Her mother reports that the patient appeared to be feeling poorly, that she had been eating less than normal, and that she vomited once. About 2 hours prior to arrival at the ER, the mother states that she noted a few purple spots scattered about the body on the patient, especially on the buttocks and legs. On the 30-minute ride to the ER, the purple areas spread rapidly and became coalesced in areas, and the patient is now obtunded. Which of the following is the most likely diagnosis?

67) A term neonate appears healthy at birth and receives routine perinatal care. Ten days after delivery, the infant develops severe eyelid edema with copious drainage of mucopurulent material and pseudomembrane formation. Which of the following is the most likely diagnosis?

68) A 4-year-old boy presents with severe pains in both of his legs. On physical examination, his temperature is 37.7 C (99.8 F), blood pressure is 108/68 mm Hg, pulse is 96/min, and respirations are 17/min. He is noted to have marked pallor on his lips and palpebral conjunctiva. Numerous purpura and petechiae are noted on his skin. His spleen is palpable 3 cm below his left costal margin. Laboratory evaluation reveals a white blood cell count of 1600/mm3; hemoglobin, 6.1 g/dL; and platelets, 36,000/mm3. Which of the following diagnoses is most consistent with these findings?

69) A 13-year-old healthy boy presents to the physician for a routine health maintenance visit. A urinalysis reveals 1+ proteinuria. There is no hematuria or bacteruria. His physical examination is unremarkable, revealing no edema and a normal blood pressure. Which of the following is the most likely diagnosis?

70) A previously healthy 18-month-old has been in a separate room from his family. The family notices the sudden onset of coughing, which resolves in a few minutes. Subsequently, the patient appears to be normal except for increased amounts of drooling and refusal to take foods orally. Which of the following is the most likely explanation for this toddler’s condition?

71) A 2-month-old infant is brought to the clinic for the evaluation of poor feeding. He was born at 32 weeks of gestation with a birth weight of 1200 g. The pertinent physical findings are pallor, tachypnea, tachycardia, and flow murmurs. The laboratory studies are as follows: Hb 7 g/dl, WBC 7,000/mm3, Platelets 230,000/mm3, Reticulocytes Low. The peripheral smear shows normocytic normochromic RBC. What is the most likely diagnosis?

72) A 5-year-old girl presents with a 3-day history of fever, dyspnea, and intermittent joint pain. She has a history of sore throat about 1 month ago. On physical examination, her temperature is 39.6 C (103.2 F), blood pressure is 94/60 mm Hg, pulse is 114/min, and respirations are 22/min. Her knees and elbow joints are swollen and tender to palpation. There is a grade III/VI diastolic murmur best heard at the apex. Multiple fine, pink macules are noted on her trunk. These macules are blanching in the middle. Which of the following is the most likely diagnosis?

73) An 8-year-old boy presents to the physician for a routine health maintenance visit. His mother states that he has had difficulty reading and concentrating in his second-grade class. On examination, seven café-au-lait spots on his body, as well as two small, soft masses above his orbit, are seen. He also has axillary freckling. His mother also has café-au-lait spots on her arms. Which of the following is the most likely diagnosis?

74) A one-year-old girl is brought to the emergency department (ED) by her mother due to a one-day history of fever and drowsiness. The child has been irritable since yesterday. On examination, she is hypothermic, lethargic and has nuchal rigidity. She flexes her hips when her neck is flexed. She appears septic, and large petechial and purpuric lesions are developing on her body. In the ED, she suddenly becomes hypotensive. Despite aggressive fluid and antibiotic resuscitation, the child dies. What will most likely be revealed as the cause of death during the autopsy of this child?

75) A 1 and half -year-old girl is sent to a children's hospital for evaluation following a nosebleed which was so severe as to require nasal packing and transfusion of platelet concentrates. When a blood sample had been drawn in the emergency room for serum chemistry studies, the local hospital laboratory had noted that the clot that formed was unusual in that it failed to retract. Peripheral blood smear obtained by finger puncture showed an appropriate number of normal-sized platelets, all of which were individual, without clumping. At the children's hospital, it was noted that the child's parents were cousins. Special platelet studies showed that the child's platelet's failed to aggregate with any physiologic aggregating agent, including a high concentration of exogenous ADP. Which of the following is the most likely diagnosis?

77) A 4-year-old boy and his family have recently visited a local amusement park. Several of the family members developed “gastroenteritis” with fever and diarrhea, but the 4-year-old’s stool was slightly different, as it contained blood. His mother reports that in the past 24 hours he developed pallor and lethargy; she relates that his face looks swollen and that he has been urinating very little. Laboratory evaluation reveals a hematocrit of 28% and a platelet count of 72,000/μL. He has blood and protein in the urine. Which of the following diagnoses is most likely to explain these symptoms?

78) A 4-day old pre term male neonate is being managed in the neonatal intensive care unit. He was born in the 34th week of gestation via lower segment caesarian section. On the first day of life, he developed tachypnea, grunting and nasal flaring. Chest x-rays showed a ground glass appearance of both lungs. He underwent endotracheal intubation and therapy with intravenous fluids, positive pressure ventilation, and intravenous antibiotics. He consequently showed remarkable improvement; however, he is currently beginning to have increased gastric residues. What is the most likely cause for this child's increased gastric residues?

79) A 14-month-old infant suddenly develops a fever of 40.2C (104.4F). Physical examination shows an alert, active infant who drinks milk eagerly. No physical abnormalities are noted. The WBC count is 22,000/μL with 78% polymorphonuclear leukocytes, 18% of which are band forms. Which of the following is the most likely diagnosis?

80) The parents of a 7-day-old infant bring her to your office for a swollen eye. Her temperature has been normal, but for the last 2 days she has had progressive erythema and swelling over the medial aspect of the right lower lid near the punctum. Her sclera and conjunctiva are clear. Gentle pressure extrudes a whitish material from the punctum. Which of the following ophthalmic conditions is the correct diagnosis?

81) A 14-year-old girl awakens with a mild sore throat, low-grade fever, and a diffuse maculopapular rash. During the next 24 hours, she develops tender swelling of her wrists and redness of her eyes. In addition, her physician notes mild tenderness and marked swelling of her posterior cervical and occipital lymph nodes. Four days after the onset of her illness, the rash has vanished. Which of the following is the most likely diagnosis?

82) A 5-day-old male term neonate has been passing maroon-colored stools for the past three days, along with frequent episodes of vomiting. He is being breastfed by his mother, who is an asthmatic. His vital signs are within normal limits. The physical examination is unremarkable. Stool examination is positive for RBCs and eosinophils. What is the most likely cause of this patient's findings?

83) A term neonate develops apnea, tachypnea, and seizures in the first 2 hours of life. The infant is large for gestational age and appears obese. Physical examination is otherwise unremarkable. Serum studies demonstrate a blood glucose level of 30 mg/dL. The mother most likely has which of the following conditions?

84) A 4-year-old child was brought in for evaluation of sleep problems. He cried and screamed within an hour of falling asleep. He seemed disoriented and confused; he did not seem aware of his parents’ presence. They were unable to arouse him to comfort him. This resolved spontaneously, and he had no recollection of the event the next morning. You informed the parents that he was most likely experiencing which of the following?

85) A male infant was found to be jaundiced 12 hours after birth. At 36 hours of age, his serum bilirubin was 18 mg/dL, hemoglobin concentration was 12.5 g/dL, and reticulocyte count 9%. Many nucleated RBCs and some spherocytes were seen in the peripheral blood smear. The differential diagnosis should include which of the following?

86) On a routine well-child examination, a 1-year-old boy is noted to be pale. He is in the 75th percentile for weight and the 25th percentile for length. Results of physical examination are otherwise normal. His hematocrit is 24%. The answer to which of the following questions is most likely to be helpful in making a diagnosis?

87) A 4-year-old boy is seen in the office for a general check-up. The child appears well nourished and has normal developmental milestones. His temperature is 36.6 C (98 F), pulse rate is 80/min, and blood pressure is 110/70 mmHg. On abdominal palpation, there is a lobular right-sided flank mass, and the kidneys are palpable bilaterally. What is the most likely cause of the flank mass in this child?

88) A 5-month-old boy is brought to the office for a mass in his left groin area. The infant is on the examination table, quietly sucking on his pacifier. On examination, there is a fluid-filled sac that does not reach the inguinal ring and transilluminates well. Which of the following is the most likely diagnosis?

89) A 6-month-old infant is taken to the emergency department because he had a seizure. Physical examination demonstrates premature closure of cranial sutures and markedly bowed legs. Laboratory studies demonstrate low serum phosphate levels, with normal vitamin D and parathyroid hormone levels. Urinalysis shows high phosphate levels, but no increased excretion of glucose, amino acids, or protein. The child's maternal grandfather had crippling bone disease, and his mother has mild bowing of the legs. Which of the following is most likely diagnosis?

92) A 3-year-old child is taken to a pediatrician because he develops burning pain, erythema, and swelling minutes after being exposed to the sun. Physical examination demonstrates erythema with swelling of the hands and arms. The skin is thickened on the backs of the hands but does not show blistering or scarring. Which of the following is the most likely diagnosis?

93) An infant born at 35 weeks’ gestation to a mother with no prenatal care is noted to be jittery and irritable, and is having difficulty feeding. You note coarse tremors on examination. The nurses report a high-pitched cry and note several episodes of diarrhea and emesis. You suspect which of the following?

94) A previously healthy full-term infant has several episodes of duskiness and apnea during the second day of life. Diagnostic considerations should include which of the following?

95) A very concerned mother brings a 2-year-old child to your office because of two episodes of a brief, shrill cry followed by a prolonged expiration and apnea. You have been following this child in your practice since birth and know the child to be a product of a normal pregnancy and delivery, to be growing and developing normally, and to have no chronic medical problems. The first episode occurred immediately after the mother refused to give the child some juice; the child became cyanotic, unconscious, and had generalized clonic jerks. A few moments later the child awakened and had no residual effects. The most recent episode (identical in nature) occurred at the grocery store when the child’s father refused to purchase a toy for her. Your physical examination reveals a delightful child without unexpected physical examination findings. Which of the following is the most likely diagnosis?

96) You are called to examine a 2-day old male infant due to difficulty in feeding. He becomes cyanotic and short of breath when he feeds, but turns pink when he cries. His prenatal, birth and family histories are unremarkable. His vital signs are normal. Chest auscultation is normal. His peripheral pulses are full and symmetric. What is the most likely diagnosis?

97) A neonate has an obviously abnormal foot. The foot is in a markedly plantar flexed position, with the sole facing the adjacent leg in a position of marked adduction. No other anomalies are noted on physical examination. Which of the following is the most likely diagnosis?

98) A mentally retarded 10-year-old boy presents with arthritis, nephrolithiasis, and progressive renal failure. Since his first years of life, he manifested peculiar neurologic abnormalities consisting of self-mutilative biting of the lips and fingers, choreoathetosis, and spasticity. Two male relatives on his mother's side presented with a similar condition and died in their teens. Which of the following is the most likely diagnosis?

99) A previously healthy 7-year-old girl comes to the office with complaints of episodic abdominal pain over the past several months. The pain is periumbilical and sharp but does not wake her from sleep or interfere with play. She has no fever, joint complaints, or constipation or diarrhea. Growth and development have been normal. The physical examination is within normal limits. Which of the following is the most likely diagnosis?

100) A 4-month-old male infant is brought to the office by his parents due to progressive lethargy, poor feeding, fatigue and increasing pallor for the past four weeks. His antenatal and birth histories are unremarkable. His diet consists mainly of breast milk. His immunizations are up-to-date. His mother's blood type is 0 +. Physical examination reveals a webbed neck, cleft lip, shielded chest, triphalangeal thumbs, and pale mucous membranes and conjunctivae. Cardiac auscultation reveals mild tachycardia and a systolic ejection murmur over the left upper sternal border. The initial investigations reveal the following: Hb 8 g/dl, Ht 26%, WBCs 7,000/mm3, Platelets 300,000 /mm3, Reticulocytes 04%, MCV 104 fl, Blood type A -, Bilirubin direct 0.1 mg/dl, Bilirubin total 1.0 mg/dl. What is the most likely diagnosis?

102) You are called to examine a one-day-old male neonate who gradually developed cyanosis over the past few hours. The infant was delivered vaginally at full term, assisted with forceps, and weighed 9 lbs. The Apgar scores were 7 and 8 at 1 and 5 minutes, respectively. Oxygen administration by mask does not relieve the cyanosis. Further examination reveals tachypnea, subcostal retractions, a normal S 1, single and loud S2, and no murmur. Which of the following is the most probable cause of the infant's cyanosis?

103) A 29-year-old woman presents to the delivery room in labor at 35 weeks' gestation with a temperature of 40 C (104 F). She lives on a dairy farm and is in the habit of drinking unpasteurized milk from her cows before sending it to the dairy. For the past 3 days she has been unable to attend to her chores because of fever, headache, mild diarrhea, and a general feeling of illness. When her amniotic membranes rupture, the fluid is dark, cloudy, and brownish-green. At birth, the infant has no malformations or edema, but is in severe respiratory distress. Which of the following is the most likely diagnosis?

104) A previously healthy 13-year-old girl presents to the emergency department with an acute onset of red urine after she played soccer in the morning. Her physical examination is unremarkable. Urinalysis shows a red color; pH, 6.2; specific gravity, 1.024; glucose, negative; blood, +4; protein, trace; nitrite, negative; leukocyte esterase, negative; white blood cell, 0/hpf; red blood cell, 1/hpf. Which of the following is the most likely explanation of the red urine?

105) A 1-month-old infant is seen in a well-baby clinic. The mother states that the baby is constipated and feeds poorly. On examination, he is jaundiced, has a large posterior fontanel and an umbilical hernia, and exhibits poor muscle tone. He has gained only 300 g since discharge from the normal newborn nursery. Which of the following is the most likely diagnosis?

106) A 15-year-old girl has a round, 1-cm cystic mass in the midline of her neck, at the level of the hyoid bone. The mass is deep to the skin and moves slightly when the patient swallows. When the mass is palpated at the same time that the tongue is pulled, there seems to be a connection between the two. The mass has been present for at least 10 years, but only recently bothered the patient because it became infected. Which of the following is the most likely diagnosis?

108) A 4-month-old infant is evaluated by a dermatologist because of thick, erythematous skin with fine scaling, principally involving his face. The mother reports that the infant is "always scratching his face." An older brother and a maternal uncle had a similar condition. Screening hematologic studies show the following: Erythrocyte count 5.1 million/mm3, Leukocyte count 12,000/mm3, Segmented neutrophils 80%, Bands 5%, Eosinophils 3%, Basophils 1%, Lymphocytes 5%, Monocytes 6%, Platelet count 35,000/mm3 , with the comment that the platelets are smaller than normal. Serum immunoglobulin studies demonstrate the following: IgA 120 mg/dL, IgE 2300 IU/mL, IgG 900 mg/dL, IgM 15 mg/dL. Patients with this condition have a significantly increased incidence of which of the following?

109) A 15-year-old athlete is in your office for his annual physical examination before the start of football season. He has no complaints, has suffered no injuries, and appears to be physically fit. On his heart examination, you note a heart rate of 100 beats per minute, and a diffuse point of maximal impulse (PMI) with a prominent ventricular lift. He has a normal S1 and S2, with an S4 gallop. He has no murmur sitting, but when he stands you clearly hear a systolic ejection murmur along the lower left sternal edge and the apex. For which of the following conditions is this examination most consistent?

110) A 10-year-old Caucasian boy is brought to the emergency room by his mother with right hemiplegia of sudden onset. The mother says that the child fell on a pencil in his mouth, ten hours before the onset of symptoms. His past medical history is insignificant. Family history is not significant. His blood pressure 110/60 mmHg and heart rate is 90/min. Physical examination reveals dense right hemiplegia, right hemianesthesia, and mild motor aphasia. Cardiac auscultation reveals S3. What is the most probable cause of this patient's condition?

111) A school teacher calls you to report that his 7-year-old student had about 10 episodes of eye blinking and gabbling today, which lasted approximately 30 seconds each. The child sat in his chair and did not have any postictal confusion. The teacher noticed several similar episodes during the last month, as well as a decline in the child's school performance. What type of seizure does this child have?

112) A 10-year-old girl has had a “cold” for 14 days. In the 2 days prior to the visit to your office, she has developed a fever of 39°C (102.2°F), purulent nasal discharge, facial pain, and a daytime cough. Examination of the nose after topical decongestants shows pus in the middle meatus. Which of the following is the most likely diagnosis?

113) A 7 -year-old girl is brought to the physician's office by her mother due to recurrent, prolonged episodes of nausea and severe vomiting for the past 4 days. According to the mother, the vomiting starts in the early morning and recur 7 to 8 times daily. The child denies any headache, abdominal pain, diarrhea, chest pain or respiratory distress. She has had two similar episodes of vomiting and nausea in the past year, which resolved spontaneously. The mother has a history of migraines. On examination, the child is afebrile and has pallor with signs of mild dehydration. The abdomen is soft and non-tender to palpation. What is the most likely cause of this child's symptoms?

114) A 14-year-old boy has pain in his left leg. An x-ray shows a tumor and a biopsy reveals histopathologic features characteristic of neural origin. Which of the following is the most likely diagnosis?

115) A 7-year-old boy arrives at the emergency room in acute distress. Over the past 3 to 4 days he has become progressively ill with generalized fatigue and mild, mid-abdominal pain that have become steadily worse. On physical examination he has a maculopapular rash on his thighs and feet with some spread of the rash to his buttocks. The rash does not blanch and the some lesions near the ankles look petechial or bruised. His temperature is 39.0 C (102.2 F) and he is drawing his knees to his chest for relief of his stomach pains. He is nauseated and vomited once before coming to the hospital. He has semi-soft dark stool, which is guaiac-positive. The boy has not voided since early morning and cannot provide a urine sample. The doctor determines that he is 10% dehydrated and asks the nurse to start intravenous fluids. Which of the following is the most likely diagnosis?

116) A newborn male has oliguria and a midline mass in the lower abdomen. What is the most likely diagnosis?

117) A 22-month-old boy who recently immigrated from Eastern Europe with his family is brought to your office by his mother who is worried that he seems to tire easily. She describes how he becomes short of breath with even mild physical activity and cannot keep up with his peers during play. The boy is at the 40th percentile for height and 20th percentile for weight. On general examination, there is no clubbing, cyanosis, or peripheral edema, but there is a harsh 3/6 holosystolic murmur over the left lower sternal border and a rumbling diastolic murmur over the cardiac apex. Which of the following is the most likely cause of his symptoms?

118) A 5-month-old child was normal at birth, but the family reports that the child does not seem to look at them any longer. They also report the child seems to “startle” more easily than he had before. Testing of his white blood cells (WBCs) identifies the absence of β-hexosaminidase A activity, confirming the diagnosis of which of the following?

119) The family of a 4-year-old boy has just moved into your area. The child was recently brought to the emergency department (ED) for an evaluation of abdominal pain. Although appendicitis was ruled out in the ED and the child’s abdominal pain has resolved, the ED physician requested that the family follow up in your office to evaluate an incidental finding of an elevated creatine kinase. The family notes that he was a late walker (began walking independently at about 18 months of age), that he is more clumsy than their daughter was at the same age (especially when trying to hold onto small objects), and that he seems to be somewhat sluggish when he runs, climbs stairs, rises from the ground after he sits, and rides his tricycle. A thorough history and physical examination are likely to reveal which of the following?

120) A 15-month-old boy is brought into the clinic with a 1-day history of fever, decreased oral intake, and runny nose. His vital signs are within normal limits except for a temperature of 39.5 C (103.1 F). He is active and in no distress. His ears are clear bilaterally. There is a clear nasal discharge. Multiple small (1-2 mm) vesicular lesions are noted on the mucosa of the anterior tonsillar pillars and posterior palate. The rest of his examination is within normal limits. Which of the following is the most likely diagnosis?

121) A 6-month-old infant presents to the emergency department with the new onset of weak cry, decreased activity, and poor feeding. The mother also states that the infant has been constipated for the past 2 days. On physical examination, the infant has a very weak cry, poor muscle tone, and absent deep tendon reflexes. Which of the following is the most likely diagnosis?

122) You are called to examine a 2-day-old male, newborn after he was noted to be cyanotic. He was born at term. His antenatal and birth histories are unremarkable. Auscultation reveals a holosystolic murmur at the left, lower sternal border and a single S2. No rales or rhonchi are heard. Chest radiograph reveals decreased pulmonary vascular markings and a normal-sized heart. EKG reveals left axis deviation. What is the most likely diagnosis?

123) A 2-year-old boy has been vomiting intermittently for 3 weeks and has been irritable, listless, and anorectic. His use of language has regressed to speaking single words. In your evaluation of this patient, which of the following is the most reasonable diagnosis to consider?

124) A 15-year-old boy is seen in the pediatrician's office for a health maintenance physical examination. The boy reports a heavy, dragging sensation in his left scrotum. The sensation is more pronounced after exercise. He denies any scrotal pain. He is not sexually active. Examination of his genitalia indicates Tanner stage 4. There is a palpable fullness over his left scrotum. Both testes are normal in size and smooth in contour. Which of the following is the most likely explanation of these findings?

125) A 5-year-old child undergoes a school entrance physical examination. The pediatrician notices grey-brown pigmentation on the skin of his forehead, hands, and pretibial regions. Subconjunctival areas near the corneoscleral junction show wedge-shaped, yellow-brown discoloration (pingueculae). Enlargement of both the spleen and the liver are noted on abdominal examination. Needle biopsy of the spleen demonstrates the presence of unusually large (20- to 100-mm diameter) reticuloendothelial histiocytes with a "crumpled-silk" appearance. Bone marrow biopsy demonstrates the presence of the same type of cells. Which of the following is the most likely diagnosis?