Heller’s syndromeの1例

A CASE OF HELLER'S SYNDROME: ELECTRON MICROSCOPIC STUDIES ON THE CEREBRAL TISSUE

はじめに

　乳幼児期における精神障害についての明確な記載は，Dementia praecocissima （De Sanctis）およびDementiainfantilis （Heller, T．）^1）に始まる。しかし，Schizophre—nien （Bleuler, E．）がDementia praecox （Kraepelin，　E．）を包括し，治癒可能な精神疾患として登場すると，Dementia praecocissimaは疾患概念のあいまいさのために次第に用いられなくなつた。一方，Dementia in—fantilisは，その生物学的側面からの検索が進むに従い，分裂病概念からはずされ，器質的背景を持ち特異な臨床経過を示す疾患として再登場するようになつた。そして，乳幼児期の精神障害についての精神病理学的研究は，Early infantile autism （Kanner, L．^2））を頂点とする多彩な概念をうみ出し，まさに自閉症概念混乱の様相を呈しているが，それは従来の自閉症研究がややもすると心理学的側面に重点のおかれていたことに起因すると考えられる^3）4）。最近，自閉症研究の方向は次第に生物学的側面に向けられ^5）6），自閉症との鑑別診断に際して，小児分裂病とならんで言語障害，微細脳損傷症候群およびDementia infantilisが注目されている。しかし，De—mentia infantilisの本邦における報告例は少なく，牧田ら^7）および今村^8）の報告があるのみである。これは，De—mentia infantilisの疾患概念に多くの問題点のあることにもよるが，他方極めて安易に自閉症の診断が行なわれているためとも考えられる。

　最近，著者らは臨床経過からDementia infantilisと考えられた1例に診断を確定する目的で脳の組織学的検索を行ない，とくに電顕レベルで示唆に富んだ所見を得たので報告し，Dementia infantilisの疾患概念についての考察を試みた。

This is a report of the case of a 6-year-old boy, who has suffered from Heller's syndrome (Dementia infantilis).

Following a normal birth, the patient's physical and mental development seemed satisfactory until the age of 2. He was able to speak 2-word sentences and remember melodies by this time he was 2 years and 6 months old. At 2 years and 8 months, his speech disappeared for no apparent reason, and he became indifferent to his surro-undings. Incontinence of feces and urine and oral tendency occured. Hyperkinesia was apparent and essential daily life habits which had already been acquired disappeared. Pneumoencephalography showed no evidence of enlargement of the ence-phalocele, but abnormal EEG was present in asso-ciation with the frequent psychomotor seizures after the onset of the disease. For this case we discussed both the clinical concepts and electron microscopic findings of the brain in Heller's syn-drome.

In the cerebral cortex, the electron density of abnormal nerve cells with dilated endoplasmic re-ticula occasionally showed considerable heightening. We discovered that lipofuscin granules in the nerve cells increased significantly in number for the patient's age. The cells which were surmised to be swollen neurons frequently contained enormous vacuoles in their cytoplasms. At the same time, we observed a thickening of the endothelial cells of the cerebral capillaries.

In the white matter, the regular structure of myelin sheaths did not disappear, but the occasional axons showed pathological changes.

Judging from these findings, we are of the opinion that dementia infantilis (Heller) was "syndrome", which might be based on pathological changes of the brain tissue.