Neurocutaneous melanosis in association with Dandy-Walker malformation: case report and literature review

Clin Exp Dermatol. 2008 Aug;33(5):611-4. doi: 10.1111/j.1365-2230.2008.02745.x. Epub 2008 May 12.

Abstract

Neurocutaneous melanosis (NCM) is a rare congenital noninheritable phacomatosis characterized by large and/or numerous cutaneous congenital melanocytic naevi (CMN) in combination with melanocytic leptomeningeal tumours. Dandy-Walker malformation (DWM) consists of a cystic dilatation of the fourth ventricle communicating with the posterior fossa, and a high insertion of the tentorium and hypoplasia/aplasia of the cerebellar vermis (partially caused by Zic1(+/-)Zic 4(+/-) on 3q2). An association of NCM and DWM is very rare, with only 15 previously reported cases to our knowledge. We present an 8-year-old girl with multiple CMN and DWM. A ventriculoperitoneal shunt operation was performed when she was 1 day old. Her neurological symptoms to date comprise headaches, nausea and vomiting as a result of ventriculoperitoneal shunt dislocation at the age of 4 years. The diagnosis is provisional asymptomatic multiple CMN-type NCM in association with DWM.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Dandy-Walker Syndrome / complications*
  • Dandy-Walker Syndrome / diagnosis
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Melanosis / complications*
  • Melanosis / diagnosis
  • Melanosis / surgery
  • Neurocutaneous Syndromes / complications*
  • Neurocutaneous Syndromes / diagnosis
  • Neurocutaneous Syndromes / surgery
  • Tomography, X-Ray Computed
  • Ventriculoperitoneal Shunt