title: Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis.
abstract: OBJECTIVE
  Neurocutaneous melanocytosis is a rare neurocutaneous syndrome defined by the presence of large and/or multiple congenital cutaneous nevi and melanocytic deposits in the central nervous system. We sought to define the spectrum of central nervous system abnormalities in children with neurocutaneous melanocytosis.
  
  
  METHODS
  We retrospectively reviewed cases of neurocutaneous melanocytosis referred to the pediatric neuro-oncology service at our center from 2003 to 2010.
  
  
  RESULTS
  Of 14 patients (11 males, 3 females) identified, eight were living. Median age of survivors was 31 months (range 12mo-6y 10mo) while median age of death was 81 months (19mo-28y). Of the six patients who died, all had diffuse leptomeningeal melanocytic deposits and four had leptomeningeal melanoma. All patients had neuroimaging: six had findings suggestive of diffuse leptomeningeal melanocytosis; seven had multifocal melanocytic deposits; and one patient had normal neuroimaging but focal seizures. Spinal abnormalities were common: three patients had extensive dorsal spinal arachnoid cysts and one had a benign cervical spindle cell tumor. Seven patients had epilepsy. Three patients had profound developmental delay; the other 11 patients had no or mild delay.
  
  
  CONCLUSIONS
  Children with neurocutaneous melanocytosis exhibit a wide range of intracranial and intraspinal abnormalities and variable clinical outcomes.
authors.affiliation: Department of Pediatrics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
authors.forename: Vijay
authors.initials: V
authors.lastname: Ramaswamy
authors.forename: Holly
authors.initials: H
authors.lastname: Delaney
authors.forename: Sofia
authors.initials: S
authors.lastname: Haque
authors.forename: Ashfaq
authors.initials: A
authors.lastname: Marghoob
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Khakoo
mesh_terms: D002490:Central Nervous System / Q000473:pathology* / Q000503:physiopathology; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008548:Melanosis / Q000150:complications* / Q000473:pathology*; D009422:Nervous System Diseases / Q000209:etiology; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000473:pathology*; D012189:Retrospective Studies