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Interesting Cases

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Profound hearing loss
2-year-old with history of status epilepticus and hemiplegia
Young child with acute left hemiparesis after minor trauma
Bump with skin discoloration over the lower back, small left lower extremity, and progressive
Teenager with progressive movement disorder, seizures, and worsening cognitive function
Teenager being evaluated for focal seizures
17-year-old with new bilateral symmetric motor deficits
Child with discrepant blood pressures
30-week, 5-day GA fetus with ventriculomegaly and concern for corpus callosum or chromosomal abnormality on US
Young child with altered mental status and abnormal movement
Neonate with prenatal diagnosis of ventriculomegaly
3-year-old female with microcephaly, developmental delay, dyskinesia, truncal hypotonia, facial dysmorphism, corneal opacities, widely spaced & hypoplastic nipples and abnormal genitalia
Child with progressive lower extremity weakness
Toddler with seizures and facial bumps
9-year-old with painless slowly growing midline mass under the chin
Neonate with prenatal ventriculomegaly and hypotonia on exam
Global developmental delay, hypotonia, and lactic acidosis in an 18-month-old male with
Toddler with altered mental status
15-year-old with one month of increasing right arm pain
2 yo with febrile seizures in the setting of severe influenza A encephalopathy. Initial MRI was normal. Second seizure cluster 2 days later