Singh Jagjit, Gathwala Geeta, Agarwal Shalini, Vaswani N D
Department of Paediatrics, Pt BD Sharma Postgraduate Institute of Medical Sciences, Rohtak 124001.
J Indian Med Assoc. 2011 May;109(5):348-9.
Joubert syndrome is a very rare disorder characterised by respiratory irregularities, saccadic eye movements, hypotonia, ataxia, developmental retardation with abnormalities of cerebellum and brainstem. Epilepsy is rarely associated with this syndrome. Herein such a case with associated epilepsy is presented. Here in this case, a male child of 4 years was presented with delayed milestones and generalised tonic-clonic seizure. Pregnancy and prenatal period was uneventful. There was history of one of his siblings having the disorders of respiratory irregularities, saccadic eye movements, ataxia, hypotonia, etc (same as the child) and died at 3 1/2 years of age. MRI brain showed features of Joubert syndrome.
乔伯特综合征是一种非常罕见的疾病，其特征为呼吸不规则、眼球跳动、肌张力减退、共济失调、发育迟缓以及小脑和脑干异常。癫痫很少与该综合征相关。本文报告了一例伴有癫痫的此类病例。在此病例中，一名4岁男童出现发育迟缓及全身性强直阵挛发作。妊娠和孕期过程顺利。他的一个兄弟姐妹有呼吸不规则、眼球跳动、共济失调、肌张力减退等症状（与该患儿相同），并在3岁半时死亡。脑部磁共振成像显示有乔伯特综合征的特征。
