16-year-old with long standing right hemiparesis, developmental delay, and bilateral cataracts
3-year-old female with microcephaly, developmental delay, dyskinesia, truncal hypotonia, facial dysmorphism, corneal opacities, widely spaced & hypoplastic nipples and abnormal genitalia
2 yo with febrile seizures in the setting of severe influenza A encephalopathy. Initial MRI was normal. Second seizure cluster 2 days later;
Occipital encephalocele and cystic kidneys detected on prenatal ultrasound at 27 weeks
5-month-old girl with a skin covered lump on the lower back. Known anorectal malformation
6-year-old, previously healthy girl, with headache, facial droop, and left-sided weakness
4 y/o girl with worsening bilateral lower limb spasticity with stiffness and poor balance
30-month-old boy with neurologic regression in motor and language domains as well as dystonia
14-month-old female with pulmonary hypertension, seizures, and congenitally dilated pupils
17-year-male with sickle cell disease who presents with altered mental status, thrombocytopenia, and bradycardia. No fever or trauma.
6-month-old girl with severe microcephaly at birth. Mother had traveled to Brazil in her 1st trimester.
4-year-old boy with tuberous sclerosis and an enlarging, newly enhancing cerebellar lesion