Hashimoto K, Takeuchi Y, Kida Y, Hasegawa H, Kantake M, Sasaki A, Asanuma K, Isumi H, Takashima S
Division of Neonatal Medicine, Matsudo City Hospital, Chiba, Japan.
Brain Dev. 1998 Apr;20(3):169-74. doi: 10.1016/s0387-7604(98)00014-x.
We report three male siblings born with fatal encephalopathy comprising microcephaly, myoclonus and muscle hypertonia. All three patients died during infancy. Postmortem examination on the brain revealed that all infants had neuronal loss in the cerebellar cortex, inferior olivary and pontine nuclei, which were more pronounced in the older subject than the younger ones. In addition, they were associated with polymicrogyria in the cerebral cortex of the insula, olivary and dentate nuclear dysplasia, and a hypoplastic corticospinal tract. The clinical and neuropathological findings in our cases were identical to those in fatal infantile encephalopathy with olivopontocerebellar hypoplasia and microencephaly [Albrecht et al., Acta Neuropathol 1993;85:394-399], but an association of malformations suggests a new genetic factor in pathogenesis of olivopontocerebellar hypoplasia.
我们报告了三名男性同胞，他们出生时患有致命性脑病，包括小头畸形、肌阵挛和肌肉张力亢进。三名患者均在婴儿期死亡。对大脑进行的尸检显示，所有婴儿的小脑皮质、下橄榄核和脑桥核均有神经元丢失，年龄较大的患者比年龄较小的患者更为明显。此外，它们还与岛叶皮质的多小脑回、橄榄核和齿状核发育异常以及皮质脊髓束发育不全有关。我们病例中的临床和神经病理学发现与伴有橄榄脑桥小脑发育不全和小头畸形的致命性婴儿脑病[Albrecht等人，《神经病理学学报》1993年；85:394 - 399]中的发现相同，但多种畸形的关联提示了橄榄脑桥小脑发育不全发病机制中的一个新的遗传因素。
