Abstract

ALVAREZ-SANZ, Ana M; CABANILLAS-BURGOS, Lizeth Y  and  HUAMANI-CONDORI, Ximena P. Joubert syndrome. Rev Neuropsiquiatr [online]. 2016, vol.79, n.3, pp.169-171. ISSN 0034-8597.

The Joubert Syndrome (JS) is a rare autosomal recessive disorder with an incidence of 1 / 100000 to 1/150 000 births, considered a ciliopathy and showing renal tubular disease, immunodeficiency and impaired neuronal migration in the cerebellum and brain stem. The main diagnostic criterion is the identification of the “Molar sign” through cerebral magnetic resonance that identifies hypoplasia of cerebellar vermis and peduncles. So far six phenotypic subgroups have been described: JS pure; JS with ocular defect (retinal dystrophy); JS with kidney defects (not associated with retinal pathology); JS with oculorrenal defects; JS with liver defect, and JS with orofaciodigital defects (eg, split tongue, multiple hamartomas, multiple oral frenums and polydactyly). The importance of diagnosing JS at an early stage is related to a possibly better prognosis, and the possibility of improving the patient’s quality of life by means of a multidisciplinary management and provision of genetic counseling for prevention of new cases in affected families.

Keywords : Diseases of the cerebellum; Joubert Syndrome.

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