Neurocutaneous melanosis presenting with hydrocephalus - Case report and review of the literature

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 (? 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.