Neurocutaneous melanosis in association with Dandy-Walker malformation: case report and literature review.
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.
Schreml
S
S
Dermatological Outpatient Facility, Regensburg, Germany. stephan@schreml.de
Gruendobler
B
B
Schreml
J
J
Bayer
M
M
Ladoyanni
E
E
Prantl
L
L
Eichelberg
G
G
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