A 6-year-old boy is brought in for episodes where he wakes up at night with tingling in his throat and on one side of his face, followed by drooling and an inability to speak, though he remains conscious and understands commands. An EEG shows wide-based spikes that are markedly increased in frequency during sleep. What is the most likely diagnosis?
A 9-year-old boy presents for evaluation of progressive scoliosis. Examination reveals a high-arched, smaller right foot with clawing of the toes. The right ankle jerk is absent, and the calf appears atrophied. His back is unremarkable on inspection. This constellation of findings is best described as which type of presentation for a tethered cord?
A 6-month-old infant is diagnosed with West syndrome. The EEG shows hypsarrhythmia, and the infant has developmental regression. For a patient with an unknown etiology (not caused by tuberous sclerosis), what is the first-line treatment that is considered a medical emergency to initiate promptly?
A 9-year-old boy presents with an acute ischemic stroke. MRI and MRA show stenosis limited to the proximal segments of the anterior and middle cerebral arteries of one hemisphere. His clinical course is monophasic, and there is no evidence of progression on follow-up imaging at 3 months. What is the recommended treatment for this specific condition, known as nonprogressive cPACNS (NPcPACNS)?
A 7-year-old boy with multiple café-au-lait macules and axillary freckling is diagnosed with Neurofibromatosis type 1. His parents are concerned about potential central nervous system complications. What is the most frequently observed central nervous system tumor in children with this condition?
A full-term male neonate is noted to have seizures on day 2 of life. His mother had an uncomplicated pregnancy and delivery. The seizures consist of focal clonic jerks and episodes of apnea. The interictal EEG is normal, and the infant is well between seizures. The father and a paternal uncle both had similar seizures as infants that resolved spontaneously. What is the most likely genetic basis for this infant’s condition?
A 14-year-old girl presents with recurrent, severe, throbbing headaches that are unilateral and associated with nausea and photophobia. The headaches last 4-6 hours and are aggravated by physical activity. Her mother has a history of “sick headaches.” Which of the following features is more characteristic of pediatric migraine compared to adult migraine?
A 4-year-old boy is brought in for evaluation because he has not yet started to speak in sentences. His parents report that he has never lost any previously acquired skills. What does a static, non-progressive abnormality in development from birth most strongly suggest?
A 4-year-old child with an unknown vaccination history presents with a high fever (39.5°C/103.1°F), nuchal rigidity, and a diffuse petechial rash. A lumbar puncture is planned, but while awaiting the procedure, what is the most appropriate empiric antibiotic regimen to initiate?
During a 2-week well-child visit, a new mother expresses concern about her baby developing a “flat head” because she has been diligent about placing him on his back to sleep. She asks for advice on prevention. Besides repositioning the infant’s head during sleep, which of the following is a key preventative strategy for deformational plagiocephaly?