Familial pontocerebellar hypoplasia type I with anterior horn cell disease.
Familial pontocerebellar hypoplasia type I with anterior horn cell disease.
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DOI：
10.1053/ejpn.1999.0177
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发表时间：
1999-01-01
期刊：
影响因子：
--
通讯作者：
Reusche, E
中科院分区：
文献类型：
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作者：
Gorgen-Pauly, U;Sperner, J;Reusche, E
我们报告了三个女性同胞的脑桥小脑发育不全和前角细胞疾病的关系。一名儿童表现出典型的桥小脑发育不全的临床和神经病理学特征，伴有相关的前角细胞疾病，Barth将其描述为桥小脑发育不全I型。该患者表现为羊水过多、先天性挛缩、呼吸功能不全、肌张力减退、反射消失、精神萎靡和肌阵挛发作。尸检发现脑桥小脑神经元和反应性胶质增生的损失，此外前角细胞萎缩类似Werdnig-Hoffmann病。另一个兄弟姐妹表现出相同的临床症状。然而，神经病理学结果仅显示脑桥小脑发育不全的证据。第三个同胞被检查后，人工流产，因为产前诊断关节弯曲。前角细胞病变在组织学上是明显的，而脑桥小脑发育不全由于脑自溶而不能证明。在三个报告的兄弟姐妹相似的临床和神经病理学研究结果表明，一个共同的遗传缺陷与不同模式的脑桥小脑发育不全和相关的前角细胞疾病。这种罕见疾病的基因缺陷仍然未知。脊髓性肌萎缩症的“运动神经元存活”基因在这三个兄弟姐妹中没有发现。
We report the association of pontocerebellar hypoplasia and anterior horn cell disease in three female siblings. One child presented with the classical clinical and neuropathological features of pontocerebellar hypoplasia with associated anterior horn cell disease, described by Barth as pontocerebellar hypoplasia type I. This patient showed polyhydramnios, congenital contractures, respiratory insufficiency, hypotonia, areflexia, listlessness and myoclonic seizures. Postmortem examination revealed a loss of neurons and reactive gliosis in the pontocerebellum and in addition anterior horn cell atrophy resembling Werdnig-Hoffmann disease. Another sibling demonstrated the same clinical symptoms. However neuropathological findings showed evidence for pontocerebellar hypoplasia only. The third sibling was examined after induced fetal abortion because of prenatally diagnosed arthrogryposis. Anterior horn cell disease was obvious histologically whereas pontocerebellar hypoplasia could not be demonstrated due to cerebral autolysis. The similar clinical and neuropathological findings in the three reported siblings suggest a common genetic defect with different patterns of pontocerebellar hypoplasia and associated anterior horn cell disease. The gene defect of this rare disorder is still unknown. The 'survival motor neuron' gene of spinal muscular atrophy was not found in these three siblings.