(Exam) Part 7 (1694-1729 ) ( 1530 -1784) Pogba KH 6

126) A term male infant is found to be cyanotic shortly after birth and requires endotracheal intubation. On physical examination, his blood pressure is 68/34 mm Hg (equal in all four extremities), pulse is 180/min, and respirations are 32/min. His precordium is dynamic, has a grade III systolic murmur, and a single S2. Chest radiography shows a normal heart size and increased pulmonary vascular markings. An arterial blood gas on an FiO2 of 100% shows pH 7.34; PaCO2: 47 mm Hg; PaO2: 46 mm Hg. Which of the following diagnoses is most consistent with these findings?

127) A 6-month-old boy is found to have bilateral metaphyseal fractures of both proximal and distal ends of the tibia. The mother says that her boyfriend takes care of the infant while she is at work. Her boyfriend explains the injuries as the result of multiple falls from bed. Which of the following is the most likely diagnosis?

129) A 2-year-old child has had red, weeping, crusted lesions of the face, scalp, diaper area, and extremities since about age 2 months, with multiple periods of exacerbation and improvement. Attempts to remove potentially irritating substances have not modified the course of the rashes. The child is noted to be constantly scratching and rubbing involved areas. There is a strong family history of hay fever and asthma. Which of the following is the most likely diagnosis?

130) A 7-year-old Caucasian boy is brought to the clinic because of poor performance in school. His mother says that his teachers have been complaining about his poor attention in the classroom for the past 8 months. They have also complained that he is out of his seat often, fidgets, and talks excessively, gets distracted easily, and interrupts class and other students. His mother has noticed that he often loses his things, and she is having more and more difficulty disciplining him at home. His antenatal and postnatal history is insignificant. His parents never had any similar problems with his 10-year-old sister. What is your clinical diagnosis?

132) A 17-year-old girl presents with a 4-week history of intermittent fever, increasing fatigue, generalized myalgia, and swelling of both her knees and ankles. There is a fine erythematous rash on her back, and she has swollen knees and ankles; the remainder of her physical examination is unremarkable. Initial laboratory evaluation shows: Leukocytes 11,400 cells/mm3, Hemoglobin 8.8 g/dL, Blood urea nitrogen 4 mg/dL, Creatinine 1.4 mg/dL, Glucose 98 mg/dL, C3 complement 36 mg/dL (normal >80 mg/dL), Antinuclear antibody titer 1:3200, Anti-double-stranded DNA titer 1:640, Antineutrophil cytoplasmic antibodies: Negative, Urinalysis Moderate hematuria (50 RBC/hpf), Moderate proteinuria (400 mg/dL). Which of the following is the most likely diagnosis?

133) A vomiting infant is brought to the emergency room. The blood work results reveal a normal blood count, but a hyponatremic, hypochloremic, metabolic alkalosis. Which of the following would be consistent with these findings?

135) A 12-year-old male is brought to your office by his mother because of a several month history of back pain. He also experienced bed wetting recently. His past medical history is insignificant. He tried acetaminophen for pain relief. He does not smoke or consume alcohol. His temperature is 36.7 C (98 F), blood pressure is 110/65 mmHg, pulse is 80/min, and respirations are 16/min. Physical examination reveals a palpable "step off" at the lumbosacral area. Straight-leg raising test is negative on both sides. Perianal sensation tested by pinprick test is decreased, but anal reflex is normal. What is the most probable diagnosis in this patient?

136) A 16-month-old is taken to the emergency room after falling while learning to walk. The toddler has an enlarging, swollen bruise on his forehead, which is now over two inches across. The parents say that the bruise is noticeably larger than it was when they entered the emergency room an hour earlier. A blood sample is drawn, and the child oozes blood at the puncture site for 25 minutes. Clotting studies on the blood sample show a prolonged PTT and a normal PT. Follow-up studies show very low levels of factor VIII. Which of the following is the most likely diagnosis?

137) A previously healthy 8-year-old boy has a 3-week history of low-grade fever of unknown source, fatigue, weight loss, myalgia, and headaches. On repeated examinations during this time, he is found to have developed a heart murmur, petechiae, and mild splenomegaly. Which of the following is the most likely diagnosis?

138) A 10-year-old boy is brought by his parents to the emergency department for the evaluation of headaches, fever, chills, and a rash over his neck, chest, and axillae. The rash appeared today, and for the past two days the child was complaining of a sore throat. He has no history of allergies, and his immunizations are up-to-date. His blood pressure is 112/70 mmHg, pulse is 1 08/min, respirations are 20/min, and temperature is 38.3C (101 F). Examination reveals an erythematous rash with a sandpaper-like texture, and which blanches with pressure. There is submandibular tender lymphadenopathy, and the throat is erythematous with gray-white exudates. What is the most likely diagnosis?

139) A 2-year-old boy is referred to your office for the evaluation of a white eye reflex. His mother suspects a hearing problem because he does not respond when she calls out his name. The physical examination reveals a continuous, machinery murmur over the right 2nd intercostal space and purple lesions on his arms and chest. The initial investigations reveal thrombocytopenia. What is the most likely diagnosis?

140) You find a discrete, whitish polyp that extends through the tympanic membrane in a child with a history of recurrent otitis media. This most likely represents which of the following?

141) A 5-day-old male premature infant in the NICU develops a decreased level of consciousness, hypotonia and decreased spontaneous movements. He was delivered vaginally at 32 weeks of gestation, and his birth weight was 1800g. Examination reveals a lethargic infant with a weak and high-pitched cry, prominent scalp veins, tense fontanels, and eyes directed downward, poor suckling, hypotonia. CT scan reveals dilation of the entire ventricular system, with distinct enlargement of the subarachnoid space over the cerebral cortex. What is the most likely cause of the patient's condition?

142) A 12-month-old infant presents with bilious vomiting and abdominal distention for 10 hours. His mother states that the infant has been constipated since birth and failed to pass meconium during the first 48 hours of life. On examination, he is very irritable. His length and weight are both below the 5th percentile according to his age. His abdomen is moderately distended. After a digital rectal examination, a fair amount of stool ejects out from the anus. Which of the following is the most likely diagnosis?

143) A 9-year-old boy is brought to the pediatrician's office for bed-wetting. His mother states that he has never been dry at night. Occasionally, he has problems controlling his bladder during the day. On physical examination, his blood pressure is 98/56 mm Hg. Both his weight and height are below the 5th percentile for his age. His bladder is enlarged and palpable above the symphysis pubis. Which of the following is the most likely cause of his problem?

144) A 4-day-old female infant presents to the emergency department with vomiting and abdominal distention. The mother states that the vomitus was green. The infant also has had difficulty feeding and has been hard to console. The mother had an uncomplicated pregnancy. The infant passed meconium within 12 hours after birth. She also had several small, seedy, yellowish stools each day since birth. On physical examination, she is very irritable, her anterior fontanelle is slightly depressed. Her abdomen is distended. Which of the following is the most likely diagnosis?

145) A previously healthy 11-year old boy presents to the physician with a fever and persistent vomiting for 4-5 days. Initially, the emesis was clear, but now it contains streaks of bright red blood. Findings on a physical examination, complete blood count, and serum electrolytes are within normal limits. Which of the following is the most likely cause of the hematemesis?

146) A 7 -year-old boy is brought to the emergency department after falling on his outstretched hand. On examination, there is minimal swelling at the right elbow. The skin on the right forearm appears tense, and severe pain is present. The brachial pulses are good bilaterally, and sensations are intact in both upper limbs. X-rays of the right upper limb show a displaced anterior fat pad. Which of the following statements is true about this condition?

147) A 3-month-old infant has a history of chronic constipation. A fulminant watery diarrhea develops over a period of 2 days, and the infant is taken to the emergency department in an obviously severely dehydrated state. Plain x-ray films of the abdomen demonstrate a massively dilated transverse colon. Which of the following is the most likely diagnosis?

148) A mother brings her 9-month-old daughter to the pediatrician with complaints of a rash. The mother states that the infant had a high fever [temperature up to 40.0 C (104 F)] for 3 days prior to developing the rash, but is now afebrile. The mother also says that the infant has had a runny nose and a slight cough for the past 3 days. On examination, there is a fine macular rash on the infant's trunk and neck. The examination is otherwise within normal limits, and the infant is playful and smiling. Which of the following is the most likely diagnosis?

149) A 20-month-old presents to the office with a 2-day history of a harsh, barking cough. His mother states that the cough sounds like a seal. She also states he has not had any fever, although he had a runny nose earlier in the week. On examination, he is notably hoarse with inspiratory stridor. He is not drooling and is sitting on his mother's lap comfortably. The rest of his examination is within normal limits. Which of the following is the most likely diagnosis?

150) A 4-year-old girl is brought to the physician by her mother who is concerned because her child has a vaginal discharge. Starting 2 days ago, the child began scratching her vulva and complaining of burning with urination. The child is otherwise healthy and has never had a similar problem. Examination reveals normal structural anatomy for a 4-year-old girl. There is no evidence of atrophy. There is an inflammatory erythema on the medial aspects of the labia majora and excoriations. There is a mucous discharge with a few flecks of blood intermixed. Which of the following is the most likely cause of a vaginal discharge in this patient?

151) A 1-year-old child presents with failure to thrive, frequent large voids of dilute urine, excessive thirst, and three episodes of dehydration not associated with vomiting or diarrhea. Over the years, other family members reportedly have had similar histories. Which of the following is the most likely diagnosis?

152) A 6-month-old infant has poor weight gain, vomiting, episodic fevers, and chronic constipation. Laboratory studies reveal a urinalysis with a pH of 8.0, specific gravity of 1.010, 1+ glucose, and 1+ protein. Urine anion gap is normal. Serum chemistries show a normal glucose and a normal albumin with a hyperchloremic metabolic acidosis. Serum phosphorus and calcium are low. What is the best diagnosis to explain these findings?

153) A 2-year-old girl is taken to a pediatrician because she has developed a rash and seems unusually unsteady when she tries to walk. Physical examination demonstrates a diffuse rash on body parts exposed to sun. Also noted are short stature, possible mental retardation, and ataxia. Screening studies demonstrate increased total amino acids in the urine. Which of the following is the most likely diagnosis?

155) A 10-year-old boy, the star pitcher for the Salt Lake City Little League baseball team, had a sore throat about 2 weeks ago but did not tell anyone because he was afraid he would miss the play-offs. Since several children have been diagnosed with rheumatic fever in the area, his mother is worried that he may be at risk as well. You tell her that several criteria must be met to make the diagnosis but the most common finding is which of the following?

156) A 6-year-old female is brought to the physician with a rash and joint pains. Her mother reports that she has been previously healthy except for a sore throat a few weeks ago. One week ago, the patient developed pain in her knees. The knee pain resolved after a few days, but now her ankles and wrists are tender. She has also developed a pink rash on her trunk that is non-pruritic. Vital signs are temperature 38.3 c (101 F), pulse 85/min, and respiratory rate 20/min. On examination, there is pain and stiffness during manipulation of the wrists and ankles. A faint, erythematous, centrifugal rash on her trunk and proximal limbs is present. Laboratory studies show: Complete blood count: Hemoglobin 12.5 g/dL, MCHC 32%, MCV 85 fl, Reticulocyte count 0.1%, Platelet count 200,000/mm3, Leukocyte count 6,500/mm3, Neutrophils 56%, Eosinophils 1%, Lymphocytes 33%, Monocytes 10%, C-reactive protein 3.5 mg/dL, Erythrocyte sedimentation rate 38 mm/hr. Which of the following is the most likely diagnosis?

157) A previously healthy 18-month-old male comes to the physician for evaluation of fever. His mother reports that he has had a fever ranging from 1 02.2 F (39.0 c) to 104.0 F (40.0 C) for the past five days. He has also become increasingly irritable with decreased appetite. His mother reports that he does continue to take some liquids. There are no known sick contacts. On examination, the infant's temperature is 102.5 F (39.2 C), pulse is 120/min, and respiratory rate is 20/min. He is irritable during the examination. There is conjunctival erythema bilaterally, with serous drainage from both eyes. His oropharynx is erythematous and his lips are fissured. There is a 2 cm anterior cervical lymph node palpable on the right side. His neck is otherwise supple and he is able to flex his chin to his chest without difficulty. There is mild abdominal tenderness to palpation. His hands and feet are slightly erythematous and edematous and there is a maculopapular rash on the trunk. Which of the following is the most likely diagnosis?

158) A 2-week-old infant is brought to the office for a newborn visit. His mother states that the he has been a very slow eater and that he is constipated, not having had a bowel movement in 3 days. On physical examination, the infant has poor muscle tone, an enlarged tongue, an umbilical hernia, an enlarged anterior fontanelle, and hypothermia. He also looks slightly jaundiced, with slightly dry skin and brittle hair. Which of the following is the most likely diagnosis?

159) A 12-year-old child is brought to his pediatrician for a routine health maintenance visit. He has been well except for occasional attacks of asthma and has met all development milestones. His immunizations are up to date. He occasionally uses theophylline for his asthma. Physical examination is remarkable for a blood pressure of 150/90 mm Hg in both arms. Which of the following is the most likely cause of his hypertension?

160) A 5-year-old boy is brought to the emergency department due to general malaise and a swollen scrotum. His mother noticed the swollen scrotum today, and is sure that "it was not there yesterday." He had a low-grade fever and a cough two weeks ago, and "hasn't been himself ever since." He has no significant past medical history. On examination, he looks ill and lethargic. He has palpable purpura on his buttocks and lower legs. He has a swollen right scrotum which is slightly tender to palpation, and his abdomen is moderately tender to palpation. Urinalysis reveals the presence of a small amount of blood and protein. He is subsequently admitted for observation. Which of the following adverse outcomes is he most likely to develop?

161) A mentally retarded 14-year-old boy has a long face, large ears, micropenis, and large testes. Chromosome analysis is likely to demonstrate which of the following?

162) A 5-month-old child with poor growth presents to the ER with generalized tonic-clonic seizure activity of about 30-minute duration that stops upon the administration of lorazepam. Which of the following historical bits of information gathered from the mother is most likely to lead to the correct diagnosis in this patient?

163) A 13-year-old girl presents with parental concerns of poor posture. She has not had any back pain. On examination, she has unequal shoulder height, asymmetric flank creases, and a forward-bending test that shows rib asymmetry. The physical examination is otherwise normal. Which of the following is the most likely cause of her condition?

164) An 18-month-old boy presents with a history of fever to 39.0°C for 5 days. He has also been irritable and has not been drinking well. Associated symptoms include red eyes, a rash, and some trouble walking. On physical examination, he has a temperature of 39.5°C. He has bilateral bulbar conjunctivitis, a strawberry tongue, an inflamed oral pharynx, edema of the hands and feet, a morbilliform rash, and cervical lymphadenopathy. He is very irritable. His CBC shows a WBC of 15,000/mm3 with 60% neutrophils, 35% lymphocytes, and 5% monocytes. His hemoglobin is 12.0 g/dL and platelet count is 500,000/ mm3. Which of the following is the most likely diagnosis?

165) An infant is delivered at full term by a spontaneous vaginal delivery to a 29-year-old primigravida. At delivery, the infant is noted to have subcostal retractions and cyanosis despite good respiratory effort. The abdomen is scaphoid. On bag and mask ventilation, auscultation of the lungs reveals decreased breath sounds on the left, with heart sounds louder on the right. Which of the following is the most likely diagnosis?

166) A 12-month-old girl has been spitting up her meals since 1 month of age. Her growth is at the 95th percentile, and she is otherwise asymptomatic and without findings on physical examination. Which of the following is the most likely diagnosis?

167) A 14-year-old girl has a 9-month history of diarrhea, abdominal pain (usually periumbilical and postprandial), fever, and weight loss. She has had several episodes of blood in her stools. Which of the following is the most likely diagnosis?

68) A 12-year-old girl complains of intermittent palpitations. She had previously been in excellent health and has met all development milestones. There is no family history of heart disease. She is on no medications and takes no drugs. She states that the palpitations begin and end suddenly and usually last a couple of hours. She is otherwise asymptomatic between episodes. The physical examination is normal. An ECG reveals a shortened PR interval and a slow upstroke of the QRS wave in lead III. Which of the following is the most likely diagnosis?

169) An 11-year-old boy is brought to the office by his mother because "he is sick." He has had headaches for the past several weeks, and has vomited 4 times in the past 5 days. He drinks large amounts of water and goes to the bathroom all the time. He is no longer interested in playing football and going out with his friends. His temperature is 37.0C (98.6F), blood pressure is 118/78 mm Hg, pulse rate is 84/min, and respirations are 16/min. On examination, there is loss of peripheral visual fields. His laboratory findings are as follows: W BC 7,800/mm3, Hemoglobin 12.6 g/dl, Hematocrit 35%, Platelets 199,000/mm3, Sodium 145 mEq/L, Potassium 3.6 mEq/L, Bicarbonate 24 mEq/L, Blood urea nitrogen 18 mg/dl, Serum creatinine 1.0 mg/dl, Blood glucose 88 mg/dl. X-rays of the head reveal a calcified lesion above the sella. What is the most likely diagnosis?

170) A full-term neonate presents with hypotonia, lethargy and poor feeding over the past three hours. The pregnancy was uneventful, but during delivery, the neonate presented with shoulder dystocia and subsequently obtained a fracture of the clavicle. His Apgar scores are 7 and 8 at one and five minutes, respectively. His birth weight is 4000g. His vital signs are normal. Physical examination reveals an enlarged tongue, mild microcephaly, prominent occiput, prominent eyes and omphalocele. Abdominal palpation reveals an enlarged liver and kidneys. The initial work-up reveals hypoglycemia and hyperinsulinemia. What is the most likely diagnosis?

171) Your older sister, her husband, their 2-day-old infant, and their pet Chihuahua arrive at your door. The parents of the child are concerned because the pediatrician noted the child was “yellow” and ordered some studies. They produce a wad of papers for you to review. Both the mother and baby have O-positive blood. The baby’s direct serum bilirubin is 0.2 mg/dL, with a total serum bilirubin of 11.8 mg/dL. Urine bilirubin is positive. The infant’s white blood cell count is 13,000/μL with a differential of 50% polymorphonuclear cells, 45% lymphocytes, and 5% monocytes. The hemoglobin is 17 g/dL, and the platelet count is 278,000/μL. Reticulocyte count is 1.5%. The peripheral smear does not show fragments or abnormal cell shapes. Which of the following is the most likely explanation for this infant’s skin color?

172) A 14-day-old male infant is brought to the emergency department due to spasms involving the whole body. He has been having very poor suckling over the last couple of days. He was delivered vaginally by an untrained birth attendant, and his mother never sought any pre- or antenatal care. The pertinent physical finding is a swollen and erythematous umbilical cord. What is the most likely diagnosis of this patient?

175) A 14-year-old African-American boy presents to your office with difficulty walking for the past several weeks. He complains of pain in the right hip. He describes two episodes of severe hip pain and one previous episode of abdominal pain requiring hospitalization. Physical examination reveals motion restriction in the right hip joint. His joint is not erythematous or tender to palpation. His hematocrit is 22%. This patient's difficulty walking is most likely secondary to which of the following?

176) A 2-year-old girl is brought to her pediatrician by her parents because of increasing lethargy and irritability. She has just started walking, and is teething and likes to chew on the woodwork around the windows. Physicalexamination reveals a tender abdomen. Laboratory studies indicate high iron and ferritin levels. The peripheral blood smear shows basophilic stippling. Which of the following is the most likely diagnosis?

177) A 10-hour-old newborn is noted to have a swelling in the scalp which was not present at birth. The swelling is limited to the surface of one cranial bone. There are no visible pulsations, indentations of the skull, or discoloration of the overlying scalp. What is the most likely diagnosis?

178) A 4-year-old boy is brought to the office because his school teacher thinks that his dusky blue appearance may have something to do with his inability to participate in regular school activities. His mother says that he has always appeared slightly out of breath. He has no history of any trauma, past surgery or medical conditions. His birth history is unremarkable. Physical examination reveals perioral cyanosis and a systolic murmur along the left sternal border. When the child squats, the murmur disappears and the cyanosis slightly improves. What is the most likely diagnosis of this patient?

179) A 2-month-old infant is evaluated by a pediatric cardiologist. The infant was noted at birth to have an upper left sternal border ejection murmur. The infant at that time was not cyanotic, but slowly developed cyanosis over the next two months. At the time of the pediatric cardiologist's examination, an ECG showed right axis deviation and right ventricular hypertrophy. A chest x-ray film showed a small heart with a concave main pulmonary artery segment and diminished pulmonary blood flow. Which of the following is the most likely diagnosis?

180) A 6-year-old boy is brought to the emergency department because of the acute onset of headache, nausea, and vomiting. On arrival, physical examination reveals marked nuchal rigidity and funduscopic evidence of papilledema. A head CT scan reveals a solid tumor in the posterior fossa, centered in the cerebellar vermis and extending to the fourth ventricle. An emergency craniotomy is performed, during which a small sample of the tumor is sent to the pathologist for a frozen section consultation. Which of the following is the most likely diagnosis?

181) A 15-month-old girl is brought to the office by her mother due to failure to thrive. For the past three months, the child has had foul-smelling, non-bloody, loose stools 7 to 8 times daily. On examination, she is irritable and has a protruding belly and trace pre-tibial edema. There are erythematous vesicles symmetrically distributed over the extensor surfaces of her elbows and knees. Preliminary laboratory investigations are significant for hypochromic microcytic anemia, and stool examination is negative for ova or parasites. What is the most likely cause of failure to thrive in this child?

184) A 25-year-old woman brings her 5-day-old infant to the emergency room after noticing that he bruises very easily. Her pregnancy was normal, and the baby was born at term via vaginal delivery at home. This is the child's first visit to the doctor. He is exclusively breast-fed, and there is no family history of bleeding disorders. On physical examination, his vital signs are within normal limits. You note several ecchymotic skin lesions, but his exam is otherwise normal. Laboratory studies show the following: Prothrombin time 20 sec, Partial thromboplastin time 37 sec, Platelets 200,000/mm3. Which of the following is the most likely cause of his current condition?

185) A 7-year-old girl is brought to the physician because of an exanthematous rash associated with malaise and headache for 2 days. On examination, the child shows a fiery red facial rash with a characteristic "slapped cheek" pattern and pallor around the mouth. There is no fever. In immunocompromised patients, the pathogen that causes this condition may result in which of the following manifestations?

186) A 12-year-old boy is brought to the physician because of pain in his right leg for the past 3 weeks. The pain frequently occurs at night and is localized to the tibia, a few centimeters below the knee. The mother reports that the pain is promptly relieved by aspirin and that the child has had no fever. Examination reveals no tissue swelling or redness about the site of pain. X-ray films show a 1-cm radiolucent focus in the tibial cortex surrounded by marked bone sclerosis. Which of the following is the most likely diagnosis?

187) A 7-year-old boy is brought to the physician because of recurrent headaches. The child feels nauseated before and during each attack, and derives some relief from lying down in a dark room. Noises, bright light, and fatigue seem to trigger the episodes. The child frequently complains of headaches at school, and his mother has been occasionally compelled to take him home. The mother is worried about the possibility of a serious illness. She reports that the child's father has similar headaches. The child's growth is normal, and a neurologic examination fails to reveal any abnormality. Which of the following is the most likely diagnosis?

188) A 12-year boy is brought to the emergency room by his parents after a several day history of progressive weakness. He has been a healthy child who has met all development milestones and all his immunizations are up to date. He reports that he had an upper respiratory infection 2 weeks ago. On physical examination, his vital signs are labile with a pulse range of 60-100/ min and systolic blood pressure ranging from 80-120 mm Hg. He is alert and oriented. Neurologic examination is impressive for bilateral weakness in the upper and lower extremities. Deep tendon reflexes are absent and sensation is intact. Which of the following is the most likely diagnosis?

89) A 2-year-old boy is brought to the office due to recurrent skin and soft tissue infections. When he was 2- months-old, he had a perianal furuncle that was incised and drained because it was unresponsive to oral antibiotics. At 7 months of age, he had a left inguinal Klebsiella pneumoniae lymphadenitis. His other past infections include a left calf cellulitis that grew Serratia marcescens and a left inguinal abscess that grew Staphylococcus epidermidis. On examination, he has hepatosplenomegaly, and enlarged axillary and inguinal lymph nodes. The screening tests for humoral, cell-mediated, and complement-mediated immunity are normal. The nitroblue tetra zolium (NBT) slide test is abnormal. What is the most likely diagnosis?

190) A fetus is delivered at 40 weeks' gestation. During labor, the fetal heart monitor shows late decelerations and loss of short- and long-term variability. The membranes are ruptured to expedite the delivery. The fluid is noted to contain meconium. The infant is delivered 45 minutes later. At delivery, the infant appears to be cyanotic and limp. He has poor tone and deep reflexes. Moro's reflex is absent. Ten hours later, he experiences a seizure. Which of the following best explains this infant's perinatal course?

191) A neonate is very small for gestational age, shows hypotonia, marked skeletal muscle, and subcutaneous fat hypoplasia. During delivery, a large volume of amniotic fluid was released at rupture of membranes. The placenta was small, and only a single umbilical artery was noted. The face has a pinched appearance with hypoplastic orbital ridges, short palpebral fissures, and a small mouth and jaw. The head is small with prominence of the occiput. The ears are low set and malformed. The infant's fists are clenched, with overlapping of the third and fourth fingers. The feet are clubbed, and the great toe is shortened. Which of the following is most likely diagnosis?

193) A 17-year-old boy is brought to the emergency department by his parents with the complaint of coughing up blood. He is stabilized, and his hemoglobin and hematocrit levels are 11 mg/dL and 33%, respectively. During his hospitalization, he is noted to have systolic blood pressure persistently greater than 130 mm Hg and diastolic blood pressure greater than 90 mm Hg. His urinalysis is remarkable for hematuria and proteinuria. You are suspicious the patient has which of the following?

194) A 4-year-old boy is being evaluated for short stature. He has a history of multiple bone fractures in the past. He requires a wheelchair to ambulate and has hearing difficulty. On physical examination, his height is below the 5th percentile. His sclerae are blue in color. There is marked deformity of his lower extremities. Which of the following is the most likely diagnosis?

195) The mother of a 2-week-old infant reports that since birth, her infant sleeps most of the day; she has to awaken her every 4 hours to feed, and she will take only an ounce of formula at a time. She also is concerned that the infant has persistently hard, pellet-like stools. On your examination you find an infant with normal weight and length, but with an enlarged head. The heart rate is 75 beats per minute and the temperature is 35°C (95°F). The child is still jaundiced. You note large anterior and posterior fontanelles, a distended abdomen, and an umbilical hernia. This clinical presentation is likely a result of which of the following?

197) A 6-year-old Caucasian boy is brought to the emergency room by his mother with hemiplegia of acute onset. She states that she found the boy unconscious in his room where she had left him playing several minutes ago; and, he slowly gained consciousness, but could not move his right arm and leg. His past medical history is insignificant. Physical examination reveals right hemiparesis with little sensory abnormalities. No meningeal signs are present. The motor function restored spontaneously during 24-hour observation in the hospital. A CT scan of the head is normal. What is the most probable cause of this patient's problem?

198) A 6-year-old female with Down syndrome is brought to the physician for behavioral changes. Over the past few weeks, she has begun refusing to do her usual activities. Her parents also report that she seems dizzy and state that she has developed urinary incontinence. On examination, she is hypotonic but hyperreflexic with a positive Babinski reflex. Her gait is ataxic. Which of the following is the most likely diagnosis?

199) An 8-year-old Cub Scout who returned from an outing 9 days ago is brought to the clinic with the rapid onset of fever, headache, muscle pain, and rash. The maculopapular rash began on the flexor surfaces of the wrist and has become petechial as it spread inward to his trunk. Which of the following is the most likely diagnosis?

200) A 12-year-old girl has had a sore throat over 2 days. She now has a fever of 39.5°C and has difficulty opening her mouth, swallowing, or speaking. Her throat can be visualized with difficulty, the right tonsil is significantly more enlarged than the left, and the uvula is displaced to the left side. Which of the following is the most likely diagnosis?

201) A 2-year-old patient arrives late to your office with his father and a sign-language translator. They are very apologetic, but the father communicates that he had car trouble at his dialysis center and thus was late picking up the child from day care. The father is concerned about his child’s having intermittent red, bloody-looking urine. A gross inspection of the child’s urine in your office looks normal, but the dipstick demonstrates 3+ blood. Which of the following is the most likely cause of this child’s hematuria?

202) A 2-year-old boy is brought to the clinic by his mother because he is lethargic and not as active as the other kids on their block. He has difficulty walking and getting up, and he always appears tired. His mother thinks that she has a relative with a disorder that causes weakness. On examination, the child is alert but quiet. His calves appear hypertrophied. His reflexes are depressed. When he gets up from the floor, he uses his hands to climb on his legs to assume an upright position. What is the most likely diagnosis of this child?

203) A 2-month-old male infant is rushed to the emergency department by his baby sitter. She says that the baby became unresponsive and blue while feeding. The whole episode lasted 45-60 seconds, but the baby still appears pale. She denies any history of coughing or choking. On examination, the infant appears cyanotic and tachypneic. His blood pressure is 90/60 mm of Hg; his pulse rate is 155/min and regular. On auscultation, a harsh pansystolic murmur is noted at the left sternal border, along with a single S2. Hepatomegaly is noted. Pulse oximetry shows an oxygen saturation of 80%. Based on this history and physical examination, what is the most likely diagnosis?

205) During a routine well-child examination a 10-year-old girl reports that she has occasional headache, “racing heart,” abdominal pain, and dizziness. Her mother states that she has witnessed one of the episodes, which occurred during an outing at the mall, and reported the child to be pale and to have sweating as well. Other than some hypertension, she has a normal physical examination. Evaluation of this child is most likely to result in which of the following diagnoses?

208) A 6-year-old boy is brought to your practice by his paternal grandmother for his first visit. She has recently received custody of him after his mother entered the penal system in another state; she does not have much information about him. You note that the child is short for his age, has downslanting palpebral fissures, ptosis, low-set and malformed ears, a broad and webbed neck, shield chest, and cryptorchidism. You hear a systolic ejection murmur in the pulmonic region. His grandmother reports that he does well in regular classes, but has been diagnosed with learning disabilities and receives speech therapy for language delay. His constellation of symptoms is suggestive of which of the following?

209) A 2-week-old infant is noted to be jaundiced. The baby's stools are pale, and his urine darkly colored. Physical examination demonstrates hepatomegaly. Serum studies show elevations of AST, ALT, conjugated bilirubin, and unconjugated bilirubin. By 2 months of age, the baby is notably irritated by pruritus, has retarded growth, and has visible dilated veins in the periumbilical area. Ultrasound fails to demonstrate a gallbladder. Which of the following is the most likely diagnosis?

210) A mother brings her 7-year-old son to the clinic because, over the past several days, his urine has become pink and bis eyes have looked puffy. About 2 weeks ago, he missed school because of fever and a sore throat. On examination, the boy's blood pressure is 130/85 mm Hg, his eyelids and scrotum appear puffy, and he has 1+ tibial edema. No rashes are noted. Which of the following is the most likely diagnosis?

212) An otherwise healthy 7-year-old child is brought to you to be evaluated because he is the shortest child in his class. Careful measurements of his upper and lower body segments demonstrate normal body proportions for his age. Which of the following disorders of growth should remain in your differential?

213) A 4-year-old immigrant boy is brought by his mother to a Medical Camp for the Uninsured for the evaluation of his inflamed right eye. He has had a nasal discharge for the past 10 days. His brother has similar symptoms. His vital signs are stable. There are follicles and inflammatory changes in the conjunctiva of his right eye. The cornea shows neovascularization. What is the most likely diagnosis?

214) A previously healthy 7-year-old child suddenly complains of a headache and falls to the floor. When examined in the emergency room (ER), he is lethargic and has a left central facial weakness and left hemiparesis with conjugate ocular deviation to the right. Which of the following is the most likely diagnosis?

215) An irritable 6-year-old child has a somewhat unsteady but nonspecific gait. Physical examination reveals a very mild left facial weakness, brisk stretch reflexes in all four extremities, bilateral extensor plantar responses (Babinski reflex), and mild hypertonicity of the left upper and lower extremities; there is no muscular weakness. Which of the following is the most likely diagnosis?

217) A 6-year-old boy presents in clinic for a routine visit. Examination reveals coarse, dark pubic hair, an enlarged penis and testes, and acne of the face and upper back. His mother notes that he has a body odor similar to that of her teenage son after playing sports. The child is in file 99th percentile of height for his age group. Which of the following is the most likely diagnosis?

218) A 10-year-old girl is brought to a pediatrician because her mother notices that she stumbles frequency at night, even with adequate lighting. Visual field testing demonstrates a relatively narrow mid-peripheral ring scotoma. Ophthalmoscopy demonstrates dark pigmentation in a bone spicule configuration involving the equatorial retina. Additional findings include a waxy yellow appearance to the disk and narrowed retinal arteries. Which of the following is the most likely diagnosis?

219) A 6-week-old boy is brought to the physician because of a rash involving the diaper area. On examination, there are erythematous, slightly scaly patches covering the buttocks and the lower abdomen. Skin creases appear spared. The baby is otherwise healthy. Physical examination reveals no lymphadenopathy, fever, or other signs of organic illness. Which of the following is the most common cause of this condition?

220) A 3-year-old boy was bitten while teasing a neighborhood cat. On examination, there are two puncture wounds on the right hand and some superficial scratch marks. There is erythema, warmth, and induration around the puncture sites. Which of the following organisms most likely caused the infection?

221) A 2-year-old boy has had a purulent drainage from the right nostril for a week. He is afebrile and has had no associated symptoms, such as cough. Which of the following is the most likely diagnosis?

222) You are called to examine a male newborn because his first feeding caused him to choke, cough and regurgitate. He was born at term via normal vaginal delivery. On examination, he has excessive salivation, fine, frothy bubbles in the mouth, abdominal distention and rattling breath sounds. Radiographs of the chest and abdomen reveal bilateral atelectasis and gastric distension. Which of the following can best explain the above findings?

223) A 9-year-old boy is brought to the office by his parents due to headaches, vomiting and visual disturbances. One week ago, he began to experience headaches that were most prominent in the morning. He also became lethargic, and had a decreased appetite and decline in school performance. The pertinent physical findings include an unbalanced gait, trunk dystaxia, horizontal nystagmus, and papilledema. If this child had a medulloblastoma, which structure would most likely be affected?

224) A 7 -year-old girl is brought to the clinic by her mother due to a persistent postnasal drip and repeated episodes of a runny nose. In the winter, she experiences several episodes of upper respiratory tract infections, which last for two to three weeks at a time. She snores, and is unable to smell her favorite food. Her immunizations are up-to-date. On examination, she is mildly underweight for her age. She has a runny nose, and her nasal drainage is colorless and stringy. Nasal inspection reveals bilateral nasal polyps, and auscultation of the chest reveals coarse rales. What is the one condition that you would like to rule out in this child?

225) A 2-year-old boy is brought by his mother to the emergency department because of a high-grade fever which "does not go away" with acetaminophen. For the last four days, the child has been very irritable and is crying a lot. He is also pulling his ear and not eating well. He has been generally well, other than the occasional sore throat this season. His temperature is 38.8° C (102.2° F), blood pressure is 90/60 mm Hg, pulse is 119/min, and respirations are 24/min. He appears well nourished, but is irritable. Physical examination reveals enlarged cervical lymph nodes and splenomegaly. The tympanic membranes are inflamed. CBC shows: WBC 81,100mm3, Hemoglobin 8.0 g/dL, Hematocrit 25%, Platelets 16,000 mm3, Blast forms 80%, Prolymphocytes 10%, Lymphocytes 10%. The blast cells have condensed nuclear chromatin, small nucleoli and scant agranular cytoplasm. Subsequent histochemical staining reveals strongly positive periodic acid Schiff (PAS) reaction. No Auer rods were seen. Which of the following is the most likely diagnosis?