title: [Neurocutaneous melanosis].
abstract: Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by large or multiple congenital melanocytic nevi and excessive proliferation of melanotic cells in the leptomeninges. We report the case of a girl with a giant hairy nevus and numerous small nevi since birth. Within the first 2 years of life she developed clinical features of increased intracranial pressure and West s syndrome. At 2 years of age she presented a right facial palsy and myelopathy. Brain and spinal magnetic resonance imaging demonstrated meningeal infiltration. Diagnosis of NCM was established by a detailed cytologic analyses of the cerebrospinal fluid that revealed melanocytic cells. She received palliative treatment. The girl died 2 months after. Patients with large or multiple congenital melanocytic nevi should be carefully followed up with clinical examination and neuroimaging to detect NCM. At present there is no curative treatment. The association of NCM and West s syndrome has not been previously described.
authors.affiliation: Unidad de Hematología-Oncología Pediátrica. Departamento de Pediatría. Hospital 12 de Octubre. Madrid.
authors.forename: M E
authors.initials: ME
authors.lastname: Mateos González
authors.forename: N
authors.initials: N
authors.lastname: Nieto del Rincón
authors.forename: M J
authors.initials: MJ
authors.lastname: Torres Valdivieso
authors.forename: E
authors.initials: E
authors.lastname: López-Laso
authors.forename: J
authors.initials: J
authors.lastname: López Pérez
authors.forename: R
authors.initials: R
authors.lastname: Simón de las Heras
authors.forename: M J
authors.initials: MJ
authors.lastname: Muñoz
authors.forename: I
authors.initials: I
authors.lastname: Onsurbe Ramírez
authors.forename: M
authors.initials: M
authors.lastname: Lillo Lillo
mesh_terms: D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008548:Melanosis / Q000175:diagnosis*; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*