Abstract

VINAS DIAZ, José A; PEREZ, Raúl A; PEREZ DE LA CRUZ, Reinaldo  and  JUAN RODRIGUEZ, Jesús A. Neurocutaneous Melanosis with Obstructive Hydrocephaly: A Case Report. Rev Ciencias Médicas [online]. 2009, vol.13, n.2, pp.255-261. ISSN 1561-3194.

Background: This rare melonocytic hamartoma of the skin and leptomeninges was first described by Vichow in 1859 and named Neurocutaneous Melanosis by Von Bogaert in 1948. Clinically, it is recognised due to the presence in the skin of dark pigmented, thick and pilose nevi spread like a "seat bath" (hypogastric region, buttocks, the upper part of the thighs), having neurological disorders which are expressed by hydrocephaly, seizures and mental retardation. The risk of malignancy in the nevi is observed. The majority of the cases are sporadic, though a pattern of autosomal dominant heredity with a variable expression (MIM: 249400) is suggested. Case Report: A six-months female patient, born from the fourth pregnancy, in term, normal weight and having young no consanguineous parents and a negative familial history of genetic defects was treated in the neurosurgical consultation. In the physical examination multiple pigmented nevi were observed with a distribution and features which matched with a Neurocutaneous Melanosis; starting from the two months of age, the anterior fontanel was tense and a sudden growing of the cephalic perimeter was observed; confirming with CAT-scan an obstructive hydrocephaly which showed a marked dilatation of the 3^rd and 4^th ventricles of the brain; this was the reason, to perform by means of a neurosurgery a CSF ventriculoperitoneal shunt. A marked retardation of the psychomotor development was observed, dying at 13 months of age. Conclusion: Neurocutaneous Melanosis associated with an Obstructive Hydrocephaly due to a Diffuse Melanosis of the Central Nervous System (CNS).

Keywords : Hydrocephaly; neurocutaneous melanosis.

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