title: Neurocutaneous melanosis presenting with hydrocephalus. Case report and review of the literature.
abstract: Neurocutaneous melanosis (NCM) is a rare congenital neurocutaneous syndrome characterized by large or multiple congenital melanocytic nevi and benign or malignant melanocytic tumors of the leptomeninges. The authors report the case of a 5-month-old girl with congenital giant melanocytic nevi who presented with symptomatic hydrocephalus. A right frontal ventriculostomy was performed in the patient. Magnetic resonance imaging demonstrated melanocyte accumulation within the hippocampi, medulla, and cerebellum. Cerebrospinal fluid cytology revealed no presence of melanocytes. A ventriculoperitoneal shunt was placed; the patient's neurological condition improved and she was discharged home in good condition. The diagnosis of neurocutaneous melanosis should be considered in a case in which an infant or child presents with hydrocephalus and either large or multiple (> or = 3) congenital melanocytic nevi. Although our patient's neurological status improved following treatment for hydrocephalus, there is no definitive therapy for NCM and symptomatic patients have a poor prognosis. Our case illustrates to the neurosurgeon the importance of recognizing the likelihood of underlying pathological conditions of the central nervous system in a child with cutaneous melanocytic nevi.
authors.affiliation: Department of Neurological Surgery, University of California, San Francisco, California 94143-0112, USA. acostaf@neurosurg.ucsf.edu
authors.forename: Frank L
authors.initials: FL
authors.lastname: Acosta
authors.forename: Devin K
authors.initials: DK
authors.lastname: Binder
authors.forename: A James
authors.initials: AJ
authors.lastname: Barkovich
authors.forename: Ilona J
authors.initials: IJ
authors.lastname: Frieden
authors.forename: Nalin
authors.initials: N
authors.lastname: Gupta
mesh_terms: D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology*; D007223:Infant; D008279:Magnetic Resonance Imaging; D008548:Melanosis / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D011379:Prognosis; D016896:Treatment Outcome