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: Yasuhiro Yamazaki, Tohru Matsuzawa, Kazuo Takasugi, Nozomu Suzuki, Makoto Kanda, Ichiro Kobayashi
• Journal: Pediatrics international : official journal of the Japan Pediatric Society (Pediatr Int) Vol. 55 Issue 2 Pg. 240-3 (Apr 2013) ISSN: 1442-200X [Electronic] Australia
• PMID: 23679165 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

Topics

• Child
• Disease Progression
• Fatal Outcome
• Female
• Headache (diagnosis, etiology)
• Humans
• Magnetic Resonance Imaging
• Melanosis (complications, diagnosis)
• Neurocutaneous Syndromes (complications, diagnosis)
• Recurrence
• Time Factors