Non-progressive congenital ataxia with cerebellar hypoplasia in three families.
OBJECTIVE
Non-progressive ataxias with cerebellar hypoplasia are a rarely seen heterogeneous group of hereditary cerebellar ataxias.


METHODS
Three sib pairs from three different families with this entity have been reviewed, and differential diagnosis has been discussed.


RESULTS
In two of the families, the parents were consanguineous. Walking was delayed in all the children. Truncal and extremity ataxia were then noticed. Ataxia was severe in one child, moderate in two children, and mild in the remaining three. Neurological examination revealed horizontal, horizonto-rotatory and/or vertical nystagmus, variable degrees of mental retardation, and pyramidal signs besides truncal and extremity ataxia. In all the cases, cerebellar hemisphere and vermis hypoplasia were detected in MRI. During the follow-up period, a gradual clinical improvement was achieved in all the children.


CONCLUSIONS
Inheritance should be considered as autosomal recessive in some of the non-progressive ataxic syndromes. Congenital non-progressive ataxias are still being investigated due to the rarity of large pedigrees for genetic studies. If further information on the aetiopathogenesis and clinical progression of childhood ataxias associated with cerebellar hypoplasia is to be acquired, a combined evaluation of metabolic screening, long-term follow-up and radiological analyses is essential.
Department of Neurology, Division of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. quitpast@hotmail.com
Z
Z
Yapici
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M
Eraksoy
D002524:Cerebellar Ataxia / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D014057:Tomography, X-Ray Computed