Visual Diagnosis: Newborn With a Facial Vascular Birthmark

1. Brian M. Faux, MD*,† 2. Abraham W. Suhr, MD‡ 3. David T. Hsieh, MD*,† 1. *Department of Pediatrics, 2. †Division of Pediatric Neurology, 3. ‡Department of Ophthalmology, San Antonio Military Medical Center, Ft Sam Houston, TX. 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. Figure 1. A port-wine birthmark involved nearly the entire (V1, V2, V3) distribution of the left trigeminal nerve, the upper eyelid, and partly the V1 distribution of the right trigeminal nerve. 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, which are aborted with intravenous lorazepam. Upon hospital admission, magnetic resonance imaging (MRI) of the brain reveals diffuse leptomeningeal enhancement of the left temporal and parietal lobes and prominence of the left choroid plexus (Fig 2), confirming the clinical diagnosis of Sturge-Weber syndrome (SWS). After a hospital course of progressive mental status improvement without recurrence of seizures, the boy is discharged on phenobarbital and later transitioned to oxcarbazepine. Figure 2. T1-weighted axial brain magnetic resonance imaging with gadolinium contrast reveals diffuse left temporal and parietal leptomeningeal enhancement (white arrow) and prominence of the left …