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.

Melanotic Neuroectodermal Tumor of Infancy Disseminated by a Ventriculoperitoneal Shunt and Diagnosed from the Inguinal Sac

“…Most were located around the peneal gland, 13 and associated with Dandy-Walker malformation. 20 In this case, the differential diagnosis was difficult, as it was challenging to distinguish between the primary MNTI of the brain and MNTI that occurred in the background of precursor lesions of neurocutaneous melanosis. Although our case failed to confirm leptomeningeal melanosis as histopathologic examinations were inconclusive, the presence of multiple, large congenital melanocytic nevi, the increased intracranial pressure after birth, and the radiologic evidence of meningeal thickening and enhancing extra-axial mass along CSF spaces strongly supported the possibility that leptomeningeal melanosis might be the origin of the MNTI.…”

Dandy-Walker Malformation Associated with Neurocutaneous Melanosis

“…A few more than 100 cases have been published so far [1][2][3][4][5]10,11,[13][14][15][16]18,19) . This disease is characterized by one or multiple large congenital melanocytic nevi and diffuse or nodular leptomeningeal involvement of melanocytes.…”

“…Whether the ventricular outlet is obstructed or not, the dysgenesis of the cerebellum and fourth ventricle may result in the gradual accumulation of CSF in the posterior fossa, but still allow absorption in a critical equilibrium because of the relatively high-pressure gradient between the CSF pathway and the venous compartment. The physiological increase in systemic blood pressure after birth results in a decreased pressure gradient and a disruption of the absorption of CSF, leading to hydrocephalus [1][2][3][4][5]7,[10][11][12][13][14]18,19) . At least 100 cases of neurocutaneous melanosis have been reported; in 15 cases, there were associations between DandyWalker malformation and neurocutaneous melanosis [1][2][3][4][10][11][12][13][14][15][16]18,19) .…”

“…Neurocutaneous melanosis is a rare dysmorphogenesis that is associated with single and multiple giant pigmented cutaneous nevi and the involvement of benign and/or malignant melanocytic tumors of the leptomeninges. After the first description by Rokitansky 17) , around 100 cases of neurocutaneous melanosis have been reported in the literature [1][2][3]5,10,11,[13][14][15][16]18,19) . Eight to 10% of these were associated with Dandy-Walker malformation, indicating a common origin of these developmental abnormalities [1][2][3]7,10,11,13,14,18,19) .…”

Primary melanocytic neoplasms of the central nervous system

“…[9][10][11][12][13][14][15] DLM has a known association with neurocutaneous melanosis (NCM), neurofibromatosis-1, Sturge-Weber syndrome and DandyWalker syndrome. [16][17][18][19][20][21][22][23] NCM is a rare, non-hereditary phakomatosis characterised by multiple or large congenital cutaneous naevi in conjunction with melanocytic tumours of the CNS. It generally presents in infancy.…”