A 4-year-old boy is brought to his pediatrician by his mother for a physical exam before summer camp. They have no complaints or concerns at this time. He was born at 37 weeks gestation by cesarean delivery. The delivery was complicated by an omphalocele and macrosomia. During infancy and into early childhood, he struggled to breathe and eat due to an enlarged tongue. Growth and development were mostly normal with mild uneven growth of his body. He has one uncle that had similar symptoms and is alive and well. The child is up to date on all vaccines and is meeting developmental goals. He enjoys school and playing with his friends. His heart rate of 90/min, respiratory rate of 22/min, blood pressure of 110/65 mm Hg, and temperature of 36.9°C (98.4°F). Overall the child appears healthy. Physical exam findings include known hemihypertrophy of the right side along with a mildly enlarged tongue. This patient is at increased risk of developing which of the following?
ASudden infant death syndrome
BScoliosis
CAlzheimer's disease
DDiabetes mellitus
EWilms tumor
A 28-year-old female in the 2nd trimester of pregnancy is diagnosed with primary Toxoplasma gondii infection. Her physician fears that the fetus may be infected in utero. Which of the following are associated with T. gondii infection in neonates?
AHutchinson’s teeth, saddle nose, short maxilla
BDeafness, seizures, petechial rash
CHydrocephalus, chorioretinitis, intracranial calcifications
DPatent ductus arteriosus, cataracts, deafness
ETemporal encephalitis, vesicular lesions
A 4-year-old boy presents with involuntary jerks seen in his upper extremities. The patient’s mother says that “his eyes move in different directions every now and then”. Last winter, the patient had chickenpox but otherwise has always been healthy. His vital signs are a blood pressure of 100/90 mm Hg, temperature of 36.8°C (98.2°F), and respiratory rate of 17/min. On physical examination, the patient’s eyes move chaotically in all directions. Laboratory tests are unremarkable, except for a random urinary vanillylmandelic acid (VMA) level of 18 mg/g creatinine (reference range for children aged 2–4 years: < 13 mg/g creatinine). An abdominal ultrasound shows a 2 cm x 3 cm x 5 cm mass in the left adrenal gland. A biopsy of the mass reveals neuroblasts arranged in a rosette pattern. Which of the following oncogenes is most commonly associated with this condition?
AMYCN
BJAK2
CRET
DALK
EKRAS
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