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
目的对1例伴脑桥和小脑发育不良的智力障碍和小头畸形(mental retardation and microcephaly with pontine and cerebellar hypoplasia,MICPCH)的患儿及其家系成员进行临床表型及基因变异分析。方法详细记录患儿的临床表型,对其进行全...目的对1例伴脑桥和小脑发育不良的智力障碍和小头畸形(mental retardation and microcephaly with pontine and cerebellar hypoplasia,MICPCH)的患儿及其家系成员进行临床表型及基因变异分析。方法详细记录患儿的临床表型,对其进行全外显子组测序(whole exome sequencing,WES),并用Sanger测序对患儿及其家系成员进行验证。结果患儿临床表现为运动障碍、发育滞后、小脑发育不全、双侧听觉障碍。WES检测提示其携带CASK基因c.1641_1644delACAA(p.Thr548Trpfs*69)杂合致病变异。Sanger测序提示,患儿父母均未携带同样的变异。结论CASK基因致病变异可能是患儿发生MICPCH的分子基础。WES有助于明确神经系统发育异常的诊断,为遗传咨询提供依据。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.
文摘目的对1例伴脑桥和小脑发育不良的智力障碍和小头畸形(mental retardation and microcephaly with pontine and cerebellar hypoplasia,MICPCH)的患儿及其家系成员进行临床表型及基因变异分析。方法详细记录患儿的临床表型,对其进行全外显子组测序(whole exome sequencing,WES),并用Sanger测序对患儿及其家系成员进行验证。结果患儿临床表现为运动障碍、发育滞后、小脑发育不全、双侧听觉障碍。WES检测提示其携带CASK基因c.1641_1644delACAA(p.Thr548Trpfs*69)杂合致病变异。Sanger测序提示,患儿父母均未携带同样的变异。结论CASK基因致病变异可能是患儿发生MICPCH的分子基础。WES有助于明确神经系统发育异常的诊断,为遗传咨询提供依据。
