Non-pProgressive congenital ataxia with cerebellar hypoplasia in three families.


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Yapıcı Z., Eraksoy M.

Acta Paediatrica, cilt.94, sa.2, ss.248-253, 2005 (SCI Expanded İndekslerine Giren Dergi)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 94 Konu: 2
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1111/j.1651-2227.2005.tb01902.x
  • Dergi Adı: Acta Paediatrica
  • Sayfa Sayıları: ss.248-253

Özet

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.

Conclusion: 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.

Key Words: Cerebellar hypoplasia, congenital non-progressive ataxic syndromes