Melanosis neurocutánea con hidrocefalia obstructiva: A propósito de un caso / Neurocutaneous Melanosis with Obstructive Hydrocephaly: A Case Report
Abstract
Antecedentes. Esta rara hamartomatosis melanocítica de la piel y leptomeninges fue descrita por Vichow en 1859 y nombrada como Melanosis Neurocutanea por Von Bogaert en 1948. Puede reconocerse clínicamente por la presencia en la piel de nevus pigmentados de color oscuro, gruesos y pilosos, repartidos en forma "de Baño de asiento" (hipogastrio, nalgas y parte superior de los muslos) con manifestaciones neurológicas expresadas por hidrocefalia, convulsiones y retraso mental. Existe elevado riesgo de malignización de los nevus. La mayoría de los casos son esporádicos, aunque se ha sugerido un patrón de herencia autosómico dominante con expresividad variable (MIM: 249400). Presentación de caso. Paciente femenina de 6 meses de edad, producto de cuarta gestación, a término, normopeso, padres jóvenes no consanguíneos e historia familiar negativo de defecto congénitos. En la exploración física se comprobaron múltiples nevus pigmentados con al distribución y característica de una Melanosis Neurocutánea; a partir de los dos meses se comprobaron fontanela anterior tensa y rápido crecimiento del perímetro cefálico confirmado por TAC una hidrocefalia obstructiva con marcada dilatación de III y IV ventrículo motivo por el cual le fue realizada por Neurocirugía una derivación de LCR ventrículo-peritoneal. Evoluciona con un marcado retraso en el desarrollo psicomotor. Fallece a la edad de 13 meses. Conclusión. Melanosis Neurocutánea asociada a Hidrocefalia obstructiva por Melanosis difusa del S.N.C.
Palabras clave: Hidrocefalia; melanosis neurocutánea.
ABSTRACT
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 3rd and 4th 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).
Key words: Hydrocephaly; neurocutaneous melanosis
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References
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