peds neuro
A 7-year-old boy is brought to the emergency department after experiencing a generalized tonic-clonic seizure that lasted approximately 3 minutes. His parents report that he has had increasing difficulty in school, frequent daydreaming episodes, and clumsiness over the past few months. On physical exam, he is alert but has ataxic gait, intention tremor, and horizontal nystagmus. Fundoscopic exam reveals cherry-red spots on the macula. MRI of the brain shows cerebellar atrophy.
Which of the following is the most likely diagnosis?
A. Juvenile myoclonic epilepsy
B. Tay-Sachs disease
C. Ataxia-telangiectasia
D. Niemann-Pick disease type A
E. Batten disease
Tay sachs disease
A 2-week-old infant is brought to the pediatrician for poor feeding, tachypnea, and cyanosis. The baby was born at term with no complications. On exam, the infant is tachycardic, has a single loud second heart sound, and is mildly cyanotic. A chest X-ray shows a "egg-on-a-string" appearance of the heart. An echocardiogram confirms the diagnosis.
Which of the following is the most appropriate next step in management?
A. Start prostaglandin E1 infusion
B. Administer furosemide and oxygen
C. Schedule surgical repair at 6 months
D. Begin beta-blocker therapy
E. Perform balloon atrial septostomy
Perform balloon atrial septostomy
A 5-year-old boy is brought to the clinic with a 2-week history of fatigue, pallor, and intermittent low-grade fevers. His mother also reports that he has been bruising easily and has had decreased appetite. On physical exam, he appears pale, has petechiae on his lower extremities, and cervical lymphadenopathy. His spleen is palpable 3 cm below the costal margin. A CBC reveals:
What is the most likely diagnosis?
A. Aplastic anemia
B. Acute lymphoblastic leukemia
C. Infectious mononucleosis
D. Immune thrombocytopenic purpura
E. Juvenile idiopathic arthritis
ALL