RESUMEN
Legius syndrome is characterized by numerous café-au-lait macules and intertriginous freckling, but typically lacks the distinctive tumor manifestations of neurofibromatosis type 1. We report two siblings with Legius syndrome and Lisch nodules illustrating the importance of eye surveillance in these patients.
RESUMEN
Gorham-Stout disease (GSD), also known as vanishing bone disease, is a rare disorder, which most commonly presents in children and young adults and is characterized by an excessive proliferation of lymphangiomatous tissue within the bones. This lymphangiomatous proliferation often affects the cranium and, due to the proximate location to the dura surrounding cerebrospinal fluid (CSF) spaces, can result in CSF leaks manifesting as intracranial hypotension with clinical symptoms to include orthostatic headache, nausea, and vertigo. We present the case of a boy with GSD and a known history of migraine headaches who presented with persistent headaches due to increased intracranial pressure. Although migraine had initially been suspected, he was eventually diagnosed with intracranial hypertension after developing ophthalmoplegia and papilledema. We describe the first known instance of successful medical treatment of increased intracranial pressure in a patient with GSD.