同胞3人にみられた小脳形成不全の剖検症例

THREE AUTOPSY CASES OF NEWBORN SIBLINGS WITH CEREBELLAR HYPOPLASIA

I．はじめに

　小脳の形成不全は比較的まれな奇形ではあるが，報告例は現在までにかなり蓄積されており，解剖学，発生学および症候学に少なからぬ貴重な事実と示唆を提供してきた。しかしそれら報告例のすべてが単発例で，家族性に同じような形成不全がみられたという報告はない。著者は同胞3人にみられた小脳形成不全を剖検し，小脳皮質の形成不全のみならず，小脳核，下オリーブ核および赤核が欠損しているというめずらしい所見を得たので報告する。

In 1955, 56, and 58, were autopsied three full-term newborn siblings, aged 49, 13, and 8 hours, respec-tively. Their parents are cousins and a clinically normal child was born in 1960 from their mother by donnor artificial insemination. Otherwise their family and prenatal history is mncontributory. Each brain of these cases, 185g in wegiht and with no remarkable abnormalities in the cerebrum, shows utterly similar changes in the cerebellum and brain stem. The cerebellum is quite hypoplastic and, except for the flocculo-nodular lobe, flattened on the surface (deficient lobulation of the neocerebellum). The cytoarchitectonic of the cerebellar cortex is heavily distorted. The cerebellar, pontine, arcuated, and red nuclei are totally absent, whne the nuclei of cranial nerves are intact. The inferior olivary nuclei are also absent, only a part of medial accessory nucleus being discernible. (This finding is compatible with Jansen's and Brodal's view that the medial accessory olive is hodologically connected with the flocculo-nodular lobe.) The presented cases are very in-dividualistic in character, being only comparable with those of H. Vogt and Brun. They differ, however, therefrom in the coordinated agenesia of the cere-bellar, olivary, and red nuclei (a very intersting fact in view of 'triangle theory' of Guillain, Mollaret, and Ogawa), and their 'teratogenetic termination period' must be set far earlier (before 3rd. fetal month) than those of H. Vogt's and Brun's cases.