Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings

Abstract

-We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive congenital ataxia in which can occur familial cases with cerebellar atrophy, including vermis hypoplasia. As differential diagnosis we compare them with related syndromes and with Joubert's syndrome which main radiological finding on MRI is vermis hypoplasia associated with "molar tooth" appearance. The correct answer for these cases will only be possible by molecular genetics.KEY WORDS: non-progressive congenital ataxia, cerebellar vermis hypoplasia, ocular motor abnormalities. Hipoplasia do verme cerebelar -ataxia congênita não progressiva: achados clínicos e radiológicos em dois irmãosRESUMO -Descrevemos e discutimos os achados clínicos e radiológicos de dois irmãos com hipoplasia do verme cerebelar e os comparamos com os relatos da literatura. Ambos apresentaram gestação e parto sem intercorrências, algum grau de hipotonia, ataxia, anormalidades oculares motoras, atraso motor discreto e fala arrastada. Estes irmãos preenchem muitos dos critérios descritos em ataxia congênita não progressiva, nos quais podem ocorrer casos familiais com atrofia cerebelar, incluindo hipoplasia do verme. Como diagnóstico diferencial, nós os comparamos com outras síndromes correlatas e com síndrome de Joubert,cujo achado radiológico característico é a hipoplasia do verme cerebelar associado com aparência de "dente molar" na ressonância magnética do crânio. A correta resposta para estes casos só será possível pela genética molecular. PALAVRAS-CHAVE: ataxia congênita não progressiva, hipoplasia do verme cerebelar, anormalidades oculares motoras.In recent decades several sporadic and familial cases of non-progressive congenital ataxia (NPCA) have been published [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15] . Steinlin et al. 15 reviewing 34 subjects with NPCA found three pairs of siblings but only one child had vermis cerebellar hypoplasia as the only abnormality, since the other siblings had also hemispheres cerebellar hypoplasia or even normal cerebellum. Joubert's syndrome is a rare autosomal recessive condition and the criteria for the diagnosis has been outlined: