After an unremarkable pregnancy, a term baby boy is delivered without complications. The newborn examination is notable only for a flat facial vascular birthmark involving nearly the entire distribution of the left trigeminal nerve, with some patchy involvement of the left upper torso, as well as involvement of the right upper eyelid (Fig 1). The patient otherwise acts well and has no abnormal movements. No notable similar dermatologic findings are reported within the family.

The clinician discusses the possibility of ophthalmologic and neurologic complications with the family. They choose to defer neuroimaging. Ophthalmology consultation initially reveals suspicious findings for glaucoma, with mildly elevated intraocular pressure in both eyes and myopic cycloplegic refraction. The infant initially is closely observed because both optic nerves appear healthy, but by age 3 months, therapy for glaucoma is initiated.

At age 5 months, the boy presents in status epilepticus with generalized clonic convulsions,...

You do not currently have access to this content.