Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis Journal Article
| Authors: | Ramaswamy, V.; Delaney, H.; Haque, S.; Marghoob, A.; Khakoo, Y. |
| Article Title: | Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis |
| Abstract: | Aim: 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. Method: 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 81months (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. Interpretation: Children with neurocutaneous melanocytosis exhibit a wide range of intracranial and intraspinal abnormalities and variable clinical outcomes. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press. |
| Journal Title: | Developmental Medicine and Child Neurology |
| Volume: | 54 |
| Issue: | 6 |
| ISSN: | 0012-1622 |
| Publisher: | Wiley-Blackwell Publishing, Inc. |
| Date Published: | 2012-06-01 |
| Start Page: | 563 |
| End Page: | 568 |
| Language: | English |
| DOI: | 10.1111/j.1469-8749.2012.04275.x |
| PROVIDER: | scopus |
| PUBMED: | 22469364 |
| DOI/URL: | |
| Notes: | --- - "Export Date: 4 June 2012" - "CODEN: DMCNA" - "Source: Scopus" |
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