Aim: Non- progressive ataxias with cerebellar hypoplasia are a rarely seen h eterogeneous group of hereditary cerebellar ataxias. Method: Three sib pairs fro m three different families with this entity have been revie...Aim: Non- progressive ataxias with cerebellar hypoplasia are a rarely seen h eterogeneous group of hereditary cerebellar ataxias. Method: Three sib pairs fro m 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 childr en, and mild in the remaining three. Neurological examination revealed horizonta l, horizonto- rotatory and/or vertical nystagmus, variable degrees of mental re tardation, and pyramidal signs besides truncal and extremity ataxia. In all the cases, cerebellar hemisphere and vermis hypoplasia were detected in MRI. During the followup period, a gradual clinical improvement was achieved in all the chil dren. Conclusion: Inheritance should be considered as autosomal recessive in som e of the non- progressive ataxic syndromes. Congenital non- progre- ssive ataxias are still being investigated due to the rarity of large pedigre es for genetic studies. If further information on the aetiopathogenesis and clin ical progression of childhood ataxias associated with cerebellar hypoplasia is t o be acquired, a combined evaluation of metabolic screening, long- term follow - up and radiological analyses is essential.展开更多
文摘Aim: Non- progressive ataxias with cerebellar hypoplasia are a rarely seen h eterogeneous group of hereditary cerebellar ataxias. Method: Three sib pairs fro m 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 childr en, and mild in the remaining three. Neurological examination revealed horizonta l, horizonto- rotatory and/or vertical nystagmus, variable degrees of mental re tardation, and pyramidal signs besides truncal and extremity ataxia. In all the cases, cerebellar hemisphere and vermis hypoplasia were detected in MRI. During the followup period, a gradual clinical improvement was achieved in all the chil dren. Conclusion: Inheritance should be considered as autosomal recessive in som e of the non- progressive ataxic syndromes. Congenital non- progre- ssive ataxias are still being investigated due to the rarity of large pedigre es for genetic studies. If further information on the aetiopathogenesis and clin ical progression of childhood ataxias associated with cerebellar hypoplasia is t o be acquired, a combined evaluation of metabolic screening, long- term follow - up and radiological analyses is essential.
