Cockayne症候群の1剖検例

AN AUTOPSY CASE OF COCKAYNE'S SYNDROME

はじめに

　Cockayne^1,2）は1936年および46年の2回にわたり，"dwarfism with retinal atrophy and deafness"と題して，特殊な型の網膜変性症を伴ない，上顎前突症（pro—ganthism）頭蓋骨の肥厚その他の骨変化，視神経萎縮，白内障，精神発達遅滞を示す同胞例を報告した。その後各国において，類似症例がCockayne症候群として報告されているが，わが国にはまだその確実な剖検報告がない。またきわめて特異な臨床および病理所見を示すにも拘らずその病因については定説がなく，今後の課題として残されている。われわれは，その剖検例を報告し，併せてその本態の解明のために同種症例の詳細な臨床および病理的検索の必要性を強調したい。

1. Clinical symptoms : Patient became ill at the age of 3. Symptoms noted were dwarfism, micro-cephaly, extreme emaciation, low auricles, con-tracture of both pelvic limbs, deafness and retarded mental development. Patient died of pneumonia at the age of 11-5/6 following a course of extremely slow progress of the disease.

2. The brain weighed 490 g. Although it was extremely small in size, it was well balanced, and its gyri were in a satisfactory condition. Its white matter was shrunk, having irregular-shaped and patchy demyelinated foci. The demyelinated foci were most markedly present in the deeper cortical layers and subcortical white matter, but they spread all over the brain white matter such as centrum semiovale, internal capsules, cerebellum and brain stem. The boundaries were indistinguishable, and masses of myelinated fibers were observed in that foci. The axon was preserved in a relatively good condition, and only a limited number of sudano-philic granules were recognized. Over the entire area of the brain grey matter, there were Alzheimer II type neuroglial cell. Marked calcium deposits were noted in basal ganglia.

3. Judging from the clinical symptoms, and course of the patient and pathological findings of the brain, it is presumed that this case belongs to Cockayne's syndrome.

4. To establish a neuropathological differential diagnosis of this case, the sequelae of perivenous encephalitis, inflammatory diffuse sclerosis, micro-encephaly with cerebral calcification and leuco-dystrophy were discussed.

5. It was pointed out as a particular character-istic of this disease that demyelinated foci similar to those of Pelizaeus-Merzbacher's disease were also present in the brain of this case.