title: Neurocutaneous melanosis in association with Dandy-Walker malformation: case report and literature review.
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.
authors.affiliation: Dermatological Outpatient Facility, Regensburg, Germany. stephan@schreml.de
authors.forename: S
authors.initials: S
authors.lastname: Schreml
authors.forename: B
authors.initials: B
authors.lastname: Gruendobler
authors.forename: J
authors.initials: J
authors.lastname: Schreml
authors.forename: M
authors.initials: M
authors.lastname: Bayer
authors.forename: E
authors.initials: E
authors.lastname: Ladoyanni
authors.forename: L
authors.initials: L
authors.lastname: Prantl
authors.forename: G
authors.initials: G
authors.lastname: Eichelberg
mesh_terms: D002648:Child; D003616:Dandy-Walker Syndrome / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008548:Melanosis / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D014057:Tomography, X-Ray Computed; D017287:Ventriculoperitoneal Shunt