A 12-year-old girl with a history of severe aplastic anemia who recently underwent bone marrow transplantation develops an acute onset of headache, seizures, and visual disturbances. An MRI of the brain reveals bilateral, symmetric high-signal intensities in the parieto-occipital regions. Which of the following is a major risk factor for developing this condition?
A 6-month-old infant is evaluated for an abnormal head shape. He has bilateral coronal synostosis causing brachycephaly, midface hypoplasia, ocular proptosis, and symmetric complex syndactyly of his hands and feet. These features are most characteristic of which genetic syndrome?
A 2-year-old boy presents with an abrupt onset of gait disturbance, irritability, and chaotic, involuntary, multidirectional eye movements. A diagnosis of opsoclonus-myoclonus-ataxia syndrome is considered. The presence of this syndrome necessitates a thorough evaluation for which underlying condition?
An infant presents with a flattened right occiput. On physical examination from a vertex view, the head has a distinct trapezoid shape. The right ear is noted to be posteriorly and inferiorly displaced, and a palpable bony ridge is present over the right lambdoid suture. These specific findings are most consistent with which diagnosis?
A previously healthy 18-month-old child from Japan presents with a rapid decline in consciousness and seizures following a febrile viral illness. Liver function tests show elevated aminotransferases without hyperammonemia. Which of the following findings on an MRI of the brain would be most characteristic of acute necrotizing encephalopathy?
A 3-day-old neonate, born at term, develops refractory multifocal clonic seizures. An initial metabolic screen is pending, and he has a poor response to a loading dose of phenobarbital. A therapeutic trial of which of the following should be most urgently considered while awaiting definitive test results?
A 6-year-old girl is brought to the emergency department with a 3-day history of fever, headache, and progressive lethargy, culminating in a generalized seizure. A brain MRI reveals large, bilateral, poorly demarcated T2 hyperintense lesions in the cerebral white matter, thalami, and basal ganglia. What feature is essential for diagnosing this patient with acute disseminated encephalomyelitis (ADEM) and distinguishing it from a first attack of multiple sclerosis (MS)?
A 9-month-old infant with a history of prolonged febrile seizures is diagnosed with Dravet syndrome after genetic testing reveals a pathogenic variant in the SCN1A gene. Which of the following medications should be specifically avoided in this patient due to the high risk of exacerbating seizures?
A 4-month-old infant presents with extreme irritability, poor head control, and episodes of hyperpyrexia without an infectious source. On examination, you note hypertonicity and optic atrophy. MRI shows extensive demyelination. You suspect Krabbe disease. What is the most accurate statement regarding treatment for this patient?
A previously healthy 8-year-old boy develops super-refractory status epilepticus two weeks after a flu-like illness. Initial workup, including brain MRI and CSF analysis, is unrevealing. A diagnosis of febrile infection-related epilepsy syndrome (FIRES) is considered. Which of the following therapeutic strategies is specifically recommended for early use in the management of FIRES?
