PDF(Pubmed)
Abstract：
We describe a case of a 2-year-old female child who presented as emergency with acute gastroenteritis and severe dehydration. In this patient, there was a history of severe birth asphyxia, and the developmental milestones were delayed. The child was managed as hypotonic cerebral palsy elsewhere with antiepileptic drug and nutritional supplements. However, persistent abnormal pattern of breathing after adequate hydration and noncontributory metabolic profile raised the suspicion of alternate etiology. Later, the diagnosis of Joubert syndrome was established on contrast-enhanced magnetic resonance imaging of brain with findings of \"molar tooth sign\" appearance along with vermian hypoplasia. We present this case to alert the clinicians to explore all the differential diagnoses carefully whenever a child presents with the developmental delay associated with multisystem involvement.
摘要：
我们描述了一例2岁的女性儿童，该儿童因急性胃肠炎和严重脱水而急诊。在这个病人身上,有严重的出生窒息史，发展里程碑被推迟了。该儿童在其他地方被治疗为低张性脑瘫，并使用抗癫痫药物和营养补充剂。然而,充足的水合作用和非贡献代谢特征后持续的呼吸异常模式增加了对替代病因的怀疑。稍后，Joubert综合征的诊断是通过脑部对比增强磁共振成像确定的，并发现了“磨牙征”和vermian发育不全。我们提出这种情况是为了提醒临床医生，每当孩子出现与多系统受累相关的发育迟缓时，都要仔细研究所有的鉴别诊断。
