title: Rapidly progressive and fatal neurocutaneous melanosis presenting as recurrent headache.
abstract: Neurocutaneous melanosis is an extremely rare disease characterized by large or multiple congenital melanocytic nevi and benign or malignant proliferation of melanocytes in the central nervous system. Neurological manifestations usually develop during the first three years of life and the prognosis of patients with NCM who manifest neurological symptoms is very poor. Here we describe a 9-year-old girl who manifested neurological symptoms caused by communicating hydrocephalus and died of proliferation of melanocytes in the central nervous system 11 months after the initial symptoms. Serum and cerebrospinal fluid 5-S-CD levels could be a useful marker of disease progression, even in patients with NCM without apparent malignant findings at initial biopsy.
authors.affiliation: Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan. yamazaki@med.hokudai.ac.jp
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Yamazaki
authors.forename: Tohru
authors.initials: T
authors.lastname: Matsuzawa
authors.forename: Kazuo
authors.initials: K
authors.lastname: Takasugi
authors.forename: Nozomu
authors.initials: N
authors.lastname: Suzuki
authors.forename: Makoto
authors.initials: M
authors.lastname: Kanda
authors.forename: Ichiro
authors.initials: I
authors.lastname: Kobayashi
mesh_terms: D002648:Child; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006261:Headache / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008548:Melanosis / Q000150:complications* / Q000175:diagnosis; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000175:diagnosis; D012008:Recurrence; D013997:Time Factors