Joubert Syndrome, Case Report

Abstract

ABSTRACT

The Joubert Syndrome(SJ) it is a rare disease of genetic transmision autosomic recesive. It characterizes for a congenital genetic malformation in the brainstem and a agenesis or hypoplasia of the cerebellar vermis evoking together in the magnetic resonance images the silhoutte of a tooth or “Molar Sign”. Morphological alterations of the fourth ventricle are also evident that take the shape of “bat wings”. The case of a 4-years-old girl is presented, who was refered to the neuropediatric consult with story of complex

febril seizures, neurodevelpmental delay is evident with motor dominance, dysmorphic features with left eyelid ptosis, strabismus, hypertelorism, broad nasal bridge and truncal hypotonia. Cerebral Magnetic Resonance was send were the characteristic findings of SJ are evident. The diferent alteration combinations presents conform the broad spectrum of the syndrome, its management is symptomatic as well as multidisciplinary and gis pronostic is favorable to the moderate forms of the disease.