Abstract

RAMIREZ-IZCOA, AE.; SANCHEZ-SIERRA, LE.; ALVARENGA-CALIDONIO, RH.  and  VARELA-GONZALEZ, D.. Gruber Meckel Syndrome in a young infant with prolonged survival. Case Report. Acta pediatr. Méx [online]. 2018, vol.39, n.1, pp.33-41. ISSN 2395-8235.  https://doi.org/10.18233/apm1no1pp33-411538.

Meckel-Gruber Syndrome is a ciliopathy caused by dysfunction of primary cilia, is a lethal autosomal recessive disorder that is diagnosed by the presence of a classical triad manifestations: bilateral cystic renal dysplasia, occipital meningoencephalocele and postaxial polydactyly. We present a case of a female infant, who at birth presented the triad Syndrome Meckel Gruber and other conditions, among which highlighted the bilateral aplasia of the optic nerve. The patient underwent exceresis of occipital meningoencephalocele at 72 hours of life, with satisfactory evolution; she continued with treatment for urinary secondary to the renal cystic dysplasia infections, also presented respiratory infections and died at 11 months. Despite the high mortality Meckel Gruber syndrome, in unusual cases like this, they have longer survival, so it is necessary to establish a multidisciplinary approach to treat complications.

Keywords : meningoencephalocele; polydactylylism; ciliopathy.

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