DES C_Diagnosis (1) Prepared : CHILLY

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?

A 39-year-old paleontologist complains of right-sided hip pain that makes it very difficult for him to lay on his right side while sleeping. He localizes the pain to the outer surface of his thigh. Which of the following is the most likely cause of his pain?

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?

A 1-day-old infant who received silver nitrate eye drops in the delivery room is suffering from bilateral purulent conjunctival discharge. Which of the following is the most likely cause of this child’s condition?

A 1-day-old infant who was born by a difficult forceps delivery is alert and active. She does not move her left arm spontaneously or during a Moro reflex. Rather, she prefers to maintain it internally rotated by her side with the forearm extended and pronated. The rest of her physical examination is normal. This clinical scenario most likely indicates which of the following?

A 1-day-old male infant has bilious vomiting after every feeding. He hasn't passed any stools yet. He had no prenatal care, and was delivered vaginally at term. He weighs 3kg (6.61b), and his APGAR scores were 6 and 7 at 1 min and 5 min, respectively. On examination, the neonate is hypotonic, he has a flat facial profile, short ears with downfolding ear lobes, a single palmar crease, and a depressed fontanel. There is abdominal distention which is most prominent in the upper abdomen. His abdominal x-rays show gastric and duodenal gas distension with no air distally. What other anomaly can also be expected in this infant?

A 1-month old boy is brought to the emergency department by his mother, who states that he has been having what she describes as "projectile vomiting" for the past several days. She states that he vomits every time she feeds him, and the situation seems to be getting worse, although he does not seem to be in pain. She describes the vomitus as non-bilious, and he has had normal stools with no blood in them. On examination, the infant appears to be mildly dehydrated, his abdomen is soft, and there is a palpable, olive-sized, firm moveable mass in the right upper quadrant. Which of the following is the most likely diagnosis?

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?

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?

A 1-month-old, previously healthy infant develops forceful projectile vomiting. No bile is seen in the vomitus. After the infant feeds, gastric peristaltic waves are visible crossing the epigastrium from left to right. Several minutes later, the projectile vomiting occurs. Which of the following is the most likely diagnosis?

A 1-week-old infant presents to her general pediatrician’s office for a well-child visit. She was born at 37 weeks’ gestation without complications. Her temperature is 37.0°C (98.6°F), pulse is 130/min, blood pressure is 72/54 mmHg, and respiratory rate is 28/min. She is currently at the 50th percentile for weight and 75th percentile for height. She is acyanotic and has a wide, fixed split S2, with a 2/6 systolic ejection murmur at the left upper sternal border. The remainder of the examination is unremarkable. Which of the following is the most likely diagnosis?

A 1-year-old African American infant is in for well-child care. He is primarily breast-fed. His parents do not give him much solid food because he has no teeth. He receives no medications or supplements. His parents are concerned about his bowed legs. On examination, you note some other bony abnormalities including frontal bossing, enlargement of the costochondral junctions, a protuberant sternum (pigeon chest), and severe bowing of the legs. You obtain x-rays to confirm your clinical diagnosis and also note a healing fracture of the left femur. Which of the following is the most likely diagnosis?

A 1-year-old boy is brought to the clinic by his 28-year-old Caucasian mother for the evaluation of his eyes. For the past several months, he has been bumping into objects. His perinatal history is unremarkable. Physical examination of the eyes reveals a bilateral white reflex. The retina cannot be visualized properly. Fundal reflection is absent, and the pupil is white. What is the most likely diagnosis?

A 1-year-old Caucasian boy is brought to your office with necrotic periodontal infection. The past medical history is significant for recurrent cutaneous and sinus infections revealing S. Aureus and P. Aeruginosa isolates. The separation of the umbilical cord was delayed (4 weeks). CBC shows leukocytosis and increased neutrophils. The number of peripheral lymphocytes is normal. Gamma-globulin level is increased on plasma protein electrophoresis. The Nitroblue tetrazolium (NBT) test is normal. Which of the following is the most likely defect present in this patient?

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?

A 1-year-old female infant is brought to the clinic by his 30-year-old mother due to feeding problems since birth. She still cannot walk nor speak. She began to sit when she was 8 months old. Her weight is in the 15th percentile, height is in the 20th percentile, and head circumference is in the 100th percentile for her age. She has multiple freckles in her armpit and groin area. She has cafe-au-lait spots on her skin, and the diameter of at least 20 of these spots is greater than 1.5mm. What is the most likely diagnosis?

A 1-year-old girl is brought to the emergency department by her mother because the child's "eyes and feet are dancing." On physical examination, the girl is well developed and in no acute distress. Her temperature 37.0 C (98.6 F), blood pressure is 100/55 mm Hg, pulse is 100/min, and respirations are 20/min. The patient has opsoclonus, myoclonus, and ptosis of the right eye. On history, the mother notes the child was born "looking like a blueberry muffin" and has had a persistent cough since the age of 2 months. Which of the following is the most likely diagnosis?

A 10-day-old infant is brought to the office by her mother for the evaluation of purulent discharge from both eyes. The discharge appeared three days ago, after which the child developed a cough. On examination, the infant's eyes appear normal, except for the presence of purulent discharge. Auscultation reveals diffuse rales without wheezing. Chest radiograph shows a hyperinflated thorax. What is the most likely diagnosis?

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?

A 10-month-old boy develops an upper respiratory tract infection 2 days before presentation. On the day of presentation, he has a generalized tonic-clonic seizure lasting 30 seconds. His temperature is 40.0 C (104 F), blood pressure is 90/60 mm Hg, and respirations are 22/min. He is alert and smiling. He has rhinorrhea, and his neck is supple. He has bruises below his knees. Which of the following is the most likely diagnosis?

A 10-month-old infant on long-term aspirin therapy for Kawasaki disease develops sudden onset of high fever, chills, diarrhea, and irritability. A rapid swab in your office identifies influenza A, adding her to the long list of influenza patients you have seen this December. Over the next few days, she slowly improves and becomes afebrile. However, 5 days after your last encounter you hear from the hospital that she has presented to the emergency center obtunded and posturing with evidence of liver dysfunction. Which of the following statements about her current condition is correct?

A 10-year old girl is brought to the office by her mother for the evaluation of recent changes in behavior. She has been sleeping poorly at night and has started wetting her bed. Her school grades have dropped significantly, and she has become irritable and cranky. She refuses to sleep at night until her father returns home and goes to bed. Her father works as a taxi driver, and is an alcoholic. Her mother is a close friend of yours, and appears very concerned. Prior to this office visit, you have known this girl to be cheerful and lively; however, as you attempt to talk to the young girl in the office, she suddenly bursts into tears. Which of the following should you consider at this point?

A 10-year-old boy from the Connecticut coast is seen because of discomfort in his right knee. He had a large, annular, erythematous lesion on his back that disappeared 4 weeks prior to the present visit. His mother recalls pulling a small tick off his back. Which of the following is a correct statement about this child’s likely illness?

A 10-year-old boy has been having “bellyaches” for about 2 years. They occur at night as well as during the day. Occasionally, he vomits after the onset of pain. Occult blood has been found in his stool. His father also gets frequent, nonspecific stomachaches. Which of the following is the most likely diagnosis?

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?

A 10-year-old boy is brought in with a chief complaint of multiple colds. On further questioning, you elicit a history of chronic, clear nasal discharge with no seasonal variation. Other symptoms include sneezing, itching of the nose and eyes, as well as tearing and occasional eye redness. Some relief is obtained with an over-the-counter cold medicine containing antihistamine and a decongestant. His history suggests which of the following?

A 10-year-old boy is brought to clinic because of increasing weakness and dyspnea over the past 6 months. He has been previously healthy and is on no medications. There is no significant family history of illness. On examination, he appears pale. His hematocrit is 20%, mean corpuscular volume (MCV) is 60/mm3, and iron level is normal. Smear reveals basophilic stippling. Hemoglobin electrophoresis is consistent with the absence of one beta-globin gene. Which of the following is the most likely diagnosis?

A 10-year-old boy is brought to the emergency department due to abdominal pain and bloody diarrhea. The mother says that he was "fine" a few days ago, and then suddenly became ill. Physical examination shows a pale and jaundiced child. There is diffuse abdominal tenderness and 2+ pedal edema. Laboratory studies show anemia, thrombocytopenia and renal insufficiency. What is the most likely cause of the patient's symptoms?

A 10-year-old boy is brought to the office by his mother after having a seizure this morning. All he can recall before the episode is "seeing funny little lights." According to his mother, his body went stiff; he lost consciousness, and then had jerky movements of the entire body. He bit his tongue, and started to drool. The seizure lasted for about one minute. After the seizure, he appeared confused for several minutes, and passed urine. He has been complaining of a headache for the past two hours. The neurological examination is normal. What type of seizure did this patient experience?

A 10-year-old boy is brought to the office by his parents because he is developing dark facial hair, deepening of the voice and a rapid height increase. He also complains of persistent headaches which are resistant to over-the-counter analgesics for the past 2 weeks. He denies nausea, vomiting or visual disturbances. His medical history is unremarkable. Physical examination reveals coarse pubic and axillary hair. Other pertinent findings include lid retraction, paralysis of upward and downward gaze, and poor pupillary reaction to light. His deep tendon reflexes are normal, Babinski sign is negative, and there are no focal neurologic signs. What tumor is most likely responsible for this child's symptoms?

A 10-year-old boy presents to the emergency room with chief complaints of fever and increasing fatigue. He was well until 2 weeks ago when he had an upper respiratory illness (URI). He has a decreased appetite and has lost 2 lbs over the last 2 weeks. He has some shortness of breath when he climbs the stairs. His past medical history is unremarkable. On examination his vital signs are normal, and his height and weight are at the 80th percentile. His conjunctiva are pale, and he has bilateral, mobile (about 1-2cm) and non-tender nodes in the cervical, axillary, and inguinal regions. Hepatosplenomegaly is present, and skin shows no lesions. Labs are Hemoglobin 7.3g/dl, platelet count 20,000/mm3, WBC count 42,100/mm3, with 24% lymphoblasts, 70% lymphocytes, and 6% atypical lymphocytes. Chest X-rays show clear lung fields but a wide mediastinum. Which of the following is the most likely diagnosis in this patient?

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?

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?

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?

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?

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?

A 10-year-old girl is evaluated by a pediatrician. She is already 5'8" tall and is taller than other members of her family were at this age. Her arms are disproportionately long compared with her trunk, and her sternum is outwardly displaced. Her joints are hyperextensible, particularly at the knees. Ocular examination demonstrates dislocation of one lens. Which of the following is the most likely diagnosis?

A 10-year-old white boy is brought to the office by his foster parents for the evaluation of severe pain in his left knee for the last few days. His left knee has been hurting so bad that he is now unable to play with his peers. The pain is continuous and non-radiating. His knee appears swollen, but he denies any history of trauma. His family history is unknown. His vital signs are stable. Physical examination reveals a pale young boy. The left knee is tender, erythematous and swollen. Blood tests reveal: WBC 12,600/mm3, Hemoglobin 9.3 g/dl, Hematocrit 29%, Platelets 201,000/mm3, ESR 40. X-ray of the knee reveals that the lower end of the femur has a central lytic lesion, onion skinning and a moth-eaten appearance with some extension into the soft tissue. What is the most likely diagnosis?

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?

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?

A 12-week-old female infant is brought to the office by her mother due to a three-week history of weakness, poor appetite, and choking spells during feeding. Other accompanying symptoms include excessive sleeping, constipation and apathy. Her prenatal history is unremarkable. She was delivered vaginally at 38 weeks of gestation. Her weight and length at birth were within normal range. She is exclusively breastfed. Her mother's family history is unremarkable. The identity and family history of her father are unknown. The pertinent physical findings include apathy, weakness, hypotonia, large tongue, sluggish movement, abdominal bloating, and an umbilical hernia. Based on the given information, what is the most likely diagnosis?

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?

A 12-year-old American boy comes to you with the complaints of abdominal pain and dark urine. On examination he has normal vitals, icteric sclerae, and abdominal tenderness with a mass palpable in right upper quadrant. His laboratory report shows bilirubin: 6.5 mg/di, negative viral serologies and mild elevations of amylase and lipase. Ultrasonography shows a cystic extra hepatic mass and a gall bladder separated from the mass. What is the most likely diagnosis in this patient?

A 12-year-old boy is accused of setting his neighbor's house on fire. His parents describe him as a hyperactive, talkative child. He earns excellent grades in school but frequently gets into fights with schoolmates and siblings. Two years ago, he was caught setting the interior of his father's car on fire. He has also been linked to several suspicious fires in the neighborhood, though no criminal charges were brought against him Based on this information, what is the most likely diagnosis?

A 12-year-old boy is brought to the clinic for a routine health maintenance exam. He has no complaints, but mentions some spots on his back, which he noticed during his physical education class. He does not know how long they have been there. He denies any allergies. He remembers having a few seizures some years ago, which have not recurred since. He does not take any medication. The physical examination reveals several white spots and nodules measuring 2x3 cm on his back. There are freckles on his face and axilla. Closer examination reveals some nodules on his iris. What is the concerning complication that this boy is prone to?

A 12-year-old boy is brought to the emergency department after being involved in a motor vehicle collision. He is in no distress and is admitted for observation. Two hours after admission, he develops tachypnea and tachycardia. His temperature is 36.7C (98F), blood pressure is 110/66 mm Hg, pulse is 110/min, and respirations are 22/min. Examination shows bruises on the right side of the chest, but palpation of the ribs does not elicit pain or suspicion for rib fractures. Breath sounds are decreased on the right side. ABG on 6 liters of oxygen shows PO2 of 60 mm Hg, PCO2 of 32 mm Hg, and pH of 7.42. An x-ray film of the chest shows a patchy irregular alveolar infiltrate in the right middle and lower lobes. Which of the following is the most likely diagnosis?

A 12-year-old boy is brought to the emergency department after falling from a tree. Examination shows tenderness and swelling over the left lower arm. An x-ray film of the arm shows a fracture of the distal end of the humerus with proximal and posterior displacement of the distal fracture segment. Closed reduction of the fracture is performed. However, postoperatively the patient complains of increasing pain in the left arm and forearm. Twelve hours postoperatively his forearm is pale and cold. There is marked pain on passive extension of the fingers. Which of the following is the potential dreaded complication of this condition?

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?

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?

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?

A 12-year-old female comes to the physician because of a vaginal discharge. The discharge started about 2 months ago and is whitish in color. There is no odor. The patient has no complaints of itching, burning, or pain. The patient started breast development at 9 years of age and her pubertal development has proceeded normally to this point. She has not had her first menses and she is not sexually active. She has no medical problems. Examination is normal for a 12-year-old female. Microscopic examination of the discharge shows no evidence of pseudohyphae, clue cells, or trichomonads. Which of the following is the most likely diagnosis?

A 12-year-old girl comes to the office complaining of a small amount of left-sided ear discharge that has persisted for the last three weeks. She has completed two courses of antibiotics that were prescribed during her previous visits. She also complains of hearing loss on the left side. On examination, she is afebrile. Otoscopy reveals an intact left tympanic membrane with peripheral granulation and some skin debris. The patient should be evaluated for which of the following?

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?

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?

A 12-year-old girl is taken to a pediatrician complaining of a sore mouth. On questioning, the child states that she has been feeling poorly, with fatigue and weakness. She began menstruating briefly and then stopped. Physical examination is notable for focal white crusting of the oral cavity; biopsy of one of these areas later shows candidiasis, Laboratory studies show the following: Sodium 127 mEq/L, Potassium 5.3 mEq/L, Bicarbonate 24 mEq/L, Calcium 7.5 mEq/dL, Phosphorus 5.5 mg/dL, Glucose 87 mg/dL. Which of the following is the most likely diagnosis?

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?

A 12-year-old white male wants to participate in sports at school. He has been growing normally since birth. His immunizations are up-to-date and he is not suffering from any known medical conditions. Which of the following measures should be taken to screen him for underlying heart disease that could cause sudden cardiac death?

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?

A 13-year-old girl had growth of breast buds at 11 years, followed by the appearance of pubic hair between the ages of 11.5 and 12 years. Which pubertal event is most likely to occur next?

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?

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?

A 13-year-old, obese boy complains of persistent knee pain for several weeks. The family brings him in because he has been limping. He sits in the examining table with the sole of the foot on the affected side pointing to the other leg. Physical examination is normal for the knee, but shows limited hip motion. As the hip is flexed, the leg goes into external rotation and cannot be rotated internally. Which of the following is the most likely diagnosis?

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?

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?

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?

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?

A 14-year-old black male comes to the office for the evaluation of pain in his right hip that started several weeks ago. The pain has gradually progressed, and now it limits his daily activities. He has sickle cell disease and was hospitalized three months ago due to a painful crisis that was successfully treated with hydration, oxygen, and analgesics. His temperature is 37.2C (99F), blood pressure is 100/70 mmHg, pulse is 80/min, and respirations are 16/min. Physical examination reveals no local tenderness, but there is restriction of abduction and internal rotation of the hip What is the most likely diagnosis?

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?

A 14-year-old boy is brought to the emergency room because of persistent midepigastric pain for two days. The pain is getting no better, yet it is no worse, and radiates to his back. The boy also has had fever, as well as nausea and vomiting that is worse when his temperature rises in the afternoon. On examination, his temperature is 39.2C (102.5F) and there is marked upper abdominal tenderness with guarding. Mild abdominal distention is present with no audible bowel sounds. A complete blood count reveals an elevated leukocyte count and a normal serum amylase. Which of the following is the most likely diagnosis?

A 14-year-old boy is brought to the psychiatrist because for the past 15 months he has been irritable and depressed almost constantly. The boy notes that he has difficulty concentrating, and he has lost 5 lb during that time period without trying. He states that he feels as if he has always been depressed, and he feels hopeless about ever feeling better. He denies suicidal ideation or hallucinations. He is sleeping well and doing well in school, though his teachers have noticed that he does not seem to be able to concentrate as well as he had previously. Which of the following is the most likely diagnosis?

A 14-year-old boy presents with decreased exercise tolerance. He is noted to have a grade III/VI systolic ejection murmur best heard at the left upper sternal border and a grade II/VI mid-diastolic murmur at the lower left sternal border. The first heart sound is normal. The second heart sound is widely split and fixed. A right ventricular impulse is palpated. On a chest roentgenogram, the pulmonary artery segment is enlarged, and pulmonary vascular markings are increased. An ECG shows right axis deviation. Which of the following congenital heart diseases does this boy most likely have?

A 14-year-old boy presents with sudden onset of pain and swelling of his right testicle. There was no history of trauma, he is not sexually active, and denies any history of penile discharge. On examination, the scrotum is swollen and tender. The cremasteric reflex is absent. A testicular flow scan shows a “cold spot” or absent flow to the affected side. Which of the following is the most likely cause?

A 14-year-old Caucasian female presents to clinic for a routine check-up. She complains that her menstrual cycles are irregular and that her menses last seven to ten days. She underwent menarche one year ago and her last menstrual period was two weeks ago. She eats a balanced diet and works out in a gym on weekends. Her past medical history is insignificant and her BMI is 25 kg/m2. Which of the following is the most likely cause of this patient's complaints?

A 14-year-old female is brought to the physician's office for evaluation of excessive menstrual bleeding. She experienced menarche at age 13, and since then her menses have been irregular and unpredictable. Her last menstrual period was 6 weeks ago and for the past week she has been having heavy menstrual bleeding. She has never been sexually active. Vital signs are stable. Her external genitalia are normal. She refused pelvic examination, and a pregnancy test is negative. Which of the following is the most likely cause of her symptoms?

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?

A 14-year-old girl comes to the office for a health maintenance evaluation. She is concerned that she has not yet started her menstrual cycle. Her height has increased by 3 inches since her last visit 1 year ago, and her weight is up by 10 pounds. On physical examination, the physician notes a general enlargement of her breasts and areola. Examination of her genital area reveals pubic hair that is coarse and dark and extends past the medial border of the labia. Which of the following is the most likely diagnosis?

A 14-year-old girl complains of irregular, unpredictable heavy menstrual bleeding. She denies pain or cramping. Her first menstrual period was at age 13, and they have always been irregular, but the bleeding seems to be getting heavier. She has no chronic health problems and states she has never been sexually active. She appears well developed and well nourished, with normal female secondary sexual characteristics. Inspection shows normal female external genitalia. Results of a qualitative urine human chorionic gonadotropin (-hCG) test are negative. Which of the following is the most likely diagnosis?

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?

A 14-year-old girl has a firm, movable, rubbery mass in her left breast. The mass was first noticed 6 months ago and has since grown to about 6 cm in diameter. Which of the following is the most likely diagnosis?

A 14-year-old girl has a history of red eyes with clear discharge that she suffers from in a seasonal pattern. Together with these symptoms, she reports itching, which is her most bothersome complaint. Physical examination shows conjunctival redness, tearing, and swelling, but there is no purulent discharge. This clinical picture is most compatible with a diagnosis of which of the following conditions?

A 14-year-old girl is brought to the physician’s office because of irregular menstrual periods. She had her menarche at age 13, and since then her periods have been irregular with the cycles varying from 3 to 6 weeks. She has no other symptoms. Physical examination is unremarkable. She has age appropriate secondary sexual characteristics. A urine pregnancy test is negative. Serum prolactin and thyroid stimulating hormone levels are normal. Administration of micronized oral progesterone results in withdrawal bleeding in 3 days. Which of the following most likely explains her irregular periods?

A 14-year-old girl presents to the emergency room for severe lower mid-abdominal pain that has been increasing over the past 12 hours. She describes it as crampy and sharp. Her last menstrual period was about 2 weeks ago. It was regular with no pain and lasted 4 to 5 days. She has had menstrual periods for nearly 2 years, and over the past 6 months she has noticed some cramping pain the first day or two of her menses. She denies sexual activity and has not had any vaginal discharge. Her bowel movements have been normal and she reports no urinary frequency, urgency, or burning with urination. Which of the following is the most likely diagnosis?

A 1400-g infant, born at 35 weeks' gestation, is 42 cm in length and a head circumference of 28 cm. One day after birth, she becomes very irritable, tremulous, and inconsolable. Her cry is high-pitched. Her pulse is 174/min. There are no dysmorphic facial features. To which of the following substances was this newborn most likely exposed in utero?

A 15-day-old male infant is brought to the emergency department by his mother due to vomiting and bloodstained stools since yesterday. The vomitus is green. Recently, the neonate has been feeding poorly. His birth history is not significant: he was absolutely normal and passed meconium within the first 12 hours of life. He has been breastfed since birth. His pulse rate is 122/min and blood pressure is 80/50mm Hg. He is irritable, his mucous membranes are dry, and his abdomen is distended. Based on these findings, what is the most likely diagnosis?

A 15-month-old Asian girl is brought to the physician's office because of persistent non-productive cough and skin rash. Other accompanying symptoms are a runny nose, sneezing and intermittent nasal obstruction. She has had these symptoms for the past four days. Her parents report that she seems to have lost interest in her usual activities and is irritable all the time. Her pulse is 130/min, temperature is 38.8C (102F), and respirations are 24/min. Her eyes are red and have a watery discharge; there is congestion that is more marked over the canthi; the inner conjunctiva has bluish white lesions on an erythematous background. Throat examination reveals erythema of the posterior pharyngeal wall and tonsillar pillars, and yellowish exudates on the tonsils. The buccal mucous membranes are red with bluish-white lesions. The face has blanching, erythematous "brick-red" maculopapular rash. No rash is present over the extremities. Cervical lymphadenopathy is noted. The lab results are as follows: Hct 46%, WBC count 3,000/mm3, Platelet 160,000/mm3,Urine Dipstick ++ for proteins. What is the most likely diagnosis?

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?

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?

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?

A 15-year-old boy comes to the physician because of hematuria and lower abdominal pain. This is his third episode of hematuria in the past 2 years. He has a family history of renal disease. His temperature is 37.1°C (98.9°F), blood pressure is 140/90 mm Hg, pulse is 80/min, and respirations are 14/min. Examination shows mild sensorineural deafness bilaterally. Urinalysis shows hematuria and proteinuria. Laboratory studies show BUN of 50 mg/dl and serum creatinine of 3.1 mg/dL; serum complement levels are normal. Renal biopsy shows foam cells, and immunofluorescence shows no immunoglobulins or complement. Electron microscopy shows alternating areas of thinned and thickened capillary loops with splitting of GBM. Which of the following is the most likely diagnosis?

A 15-year-old boy is brought to the physician because of a 15-day history of painful swelling of the right knee. The swelling and redness were immediate after hitting his knee on the door, but have not subsided after 15 days of ibuprofen. He states the pain is increasing. He has no other complaints. His temperature is 37.1C (98.9F), blood pressure is 110/75 mm Hg, pulse is 80/min, and respirations are 22/min. Laboratory studies show a normal ESR and elevated serum alkaline phosphatase. Examination shows the skin is warm and non-tender. An x-ray film of the femur and the knee joint shows an osteolytic lesion of the distal femur along with periosteal inflammation. Which of the following is the most likely diagnosis?

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?

A 15-year-old girl complains of low-grade fever, malaise, conjunctivitis, runny nose, and cough. After this prodromal phase, a rash of discrete pink macules begins on her face and extends to her hands and feet. She is noted to have small red spots on her palate. What is the most likely cause of her rash?

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?

A 15-year-old girl is admitted to the hospital with a 6-kg weight loss, bloody diarrhea, and fever that have occurred intermittently over the previous 6 months. She reports cramping abdominal pain with bowel movements. She also reports secondary amenorrhea during this time. Stool cultures in her physician’s office have shown only normal intestinal flora. A urine pregnancy test was negative, while an erythrocyte sedimentation rate (ESR) was elevated. Her examination is significant for the lack of oral mucosal ulcerations and a normal perianal examination. Anti-Saccharomyces cerevisiae antibodies (ASCA) are negative, while anti-neutrophil cytoplasm antibodies (p-ANCA) are positive. You confirm your presumptive diagnosis with a rectal biopsy. In counseling her about her disease, which of the following statements would be true?

A 15-year-old girl is being evaluated for primary amenorrhea. She has no other symptoms. She has not been sexually active. She has no other medical problems and does not take any medication. Her family history is unremarkable. On examination, you note fully developed breasts and absent axillary and pubic hair. External genitalia have a normal appearance, but the vagina is abnormally short and blind ended. Initial work-up reveals no uterus on ultrasound, a testosterone level of 400 ng/dl (Normal is 20-80 for a female), and a 46 XY karyotype. Which of the following events is most likely to have caused the absence of in utero development of the internal reproductive organs?

A 15-year-old girl is being evaluated for primary amenorrhea. She has no other symptoms. She has not been sexually active. She has no other medical problems and does take any medication. Her family history is unremarkable. On examination, you note fully developed breasts and absent axillary and pubic hair. External genitalia have a normal appearance, but the vagina is abnormally short and blind ended. Initial work-up reveals no uterus on ultrasound, a testosterone level of 400 ng/dl (Normal is 20-80 for a female), and a 46 XY karyotype. Which of the following events is most likely to have caused the absence of in utero development of the internal reproductive organs?

A 15-year-old girl is being evaluated for primary amenorrhea. She is otherwise healthy and has no previous medical problems. Vital signs are within normal limits. Physical examination reveals normal breast development, normal pubic and axillary hair, and a blind vagina; the uterus and adnexae could not be appreciated. Pelvic ultrasonography reveals 2 ovaries and no uterus is seen. The karyotype is 46 XX. Which of the following is the most likely diagnosis?

A 15-year-old girl presents to a pediatric cardiology clinic with a complaint of chest pain. She states the pain has come and gone over the past year, but has increased in frequency over the past few weeks. She describes it as a sharp pain over her left chest. Physical examination reveals a healthy-appearing 15-year-old girl. Her temperature is 37.2 C (99 F), pulse is 90/min, and respiratory rate is 20/min. Lung examination is normal. Cardiac examination reveals a late systolic murmur preceded by a click at the apex. No heave or rub is present. An electrocardiogram and chest x-ray film are unremarkable. Which of the following is the most likely diagnosis?

A 15-year-old girl presents to the emergency department with the sudden onset of watery diarrhea tinged with blood. The girl was previously healthy. Her only medications are topical benzoyl peroxide and oral clindamycin for acne vulgaris. Physical examination reveals a slightly distended abdomen that is diffusely tender. Her temperature is 38.1 C (100.5 F). She has not been exposed to any uncooked meat and has not eaten any unusual foods. Which of the following is the most likely diagnosis?