Fehrenbach M K, Nestler U, Meixensberger J, Bernhard M K, Merkenschlager A, Weise S, Krause M
Department of Neurosurgery, University Clinic of Leipzig, Liebigstr. 20, 04109, Leipzig, Germany.
Department of Pediatrics Hospital for Children and Adolescents, University Clinic of Leipzig, Leipzig, Germany.
Childs Nerv Syst. 2018 Jul;34(7):1423-1425. doi: 10.1007/s00381-018-3767-0. Epub 2018 Mar 5.
The ciliopathy "Joubert syndrome" was first described in 1969 by Dr. Marie Joubert and most subtypes follow an autosomal recessive inheritance. The complex disorder shows typical clinical features, such as hyperventilation, abnormal eye movements, and retardation. A pathognomonic midbrain-hindbrain malformation, the molar tooth sign, can be found on magnetic resonance imaging of the brainstem. There are a little more than 200 reports of Joubert syndrome in the literature.
We report a case of a 9-year-old boy who developed a progressive hydrocephalus starting from the age of 4. He underwent VP shunt placement at 8 years, which relieved hydrocephalus-related clinical symptoms and put development of the macrocephalus to a halt.
Neonatal hydrocephalus due to the altered anatomy of the posterior fossa has been reported earlier, but to our knowledge, this is the first case of a delayed onset of hydrocephalus in a patient with Joubert syndrome.
纤毛病“儒贝尔综合征”于1969年由玛丽·儒贝尔博士首次描述，大多数亚型遵循常染色体隐性遗传。这种复杂的病症具有典型的临床特征，如通气过度、异常眼动和发育迟缓。在脑干的磁共振成像上可以发现一种具有诊断意义的中脑-后脑畸形，即磨牙征。文献中关于儒贝尔综合征的报道有200多篇。
我们报告一例9岁男孩的病例，该男孩从4岁起出现进行性脑积水。他在8岁时接受了脑室腹腔分流术，这缓解了与脑积水相关的临床症状，并使巨头症的发展停止。
先前已有因后颅窝解剖结构改变导致新生儿脑积水的报道，但据我们所知，这是首例儒贝尔综合征患者出现延迟性脑积水的病例。
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