FATAL INFANTILE ENCEPHALOPATHY WITH OLIVOPONTOCEREBELLAR HYPOPLASIA AND MICRENCEPHALY - REPORT OF 3 SIBLINGS
FATAL INFANTILE ENCEPHALOPATHY WITH OLIVOPONTOCEREBELLAR HYPOPLASIA AND MICRENCEPHALY - REPORT OF 3 SIBLINGS
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DOI：
10.1007/bf00334450
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发表时间：
1993-03-01
影响因子：
12.7
通讯作者：
ARMSTRONG, DL
中科院分区：
文献类型：
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作者：
ALBRECHT, S;SCHNEIDER, MC;ARMSTRONG, DL
我们报告了三个兄弟姐妹出生时患有严重的新生儿脑病，临床表现为小头畸形、肌阵挛和肌肉张力过高。核型分析和所有的生化研究都没有发现。三名患者均在婴儿期死亡。一名儿童的大脑尸检发现下橄榄和脑桥核有严重的神经元丢失。还有严重的小脑发育不全和小脑畸形。在大脑的所有区域都有弥漫性的白色物质胶质增生。我们认为这可能代表了一种以前未描述的家族性婴儿脑病伴橄榄体脑桥小脑发育不全。
We report three siblings born with severe neonatal encephalopathy, manifested clinically by microcephaly, myoclonus, and muscular hypertonus. Karyotypic analyses and all biochemical investigations were unrevealing. All three patients died during infancy. Postmortem examination of the brain in one child disclosed severe neuronal loss in the inferior olives and the pontine nuclei. There was also severe hypoplasia of the cerebellum and micrencephaly. There was diffuse gliosis of the white matter in all areas of the brain. We believe this may represent a previously undescribed form of familial infantile encephalopathy with olivopontocerebellar hypoplasia.