Non-progressive congenital ataxia with cerebellar hypoplasia in three families
ACTA PAEDIATRICA, vol.94, no.2, pp.248-253, 2005 (SCI-Expanded, Scopus)
- Publication Type: Article / Editorial Material
- Volume: 94 Issue: 2
- Publication Date: 2005
- Doi Number: 10.1080/08035250410022413
- Journal Name: ACTA PAEDIATRICA
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.248-253
- Istanbul University Affiliated: Yes
Abstract
Aim: Non-progressive ataxias with cerebellar hypoplasia are a rarely seen heterogeneous group of hereditary cerebellar ataxias. Method: 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.