脱髄・脳内石灰沈着を伴う小頭症症候群（Cockayne症候群）の1剖検例

Syndrome of microcephaly, cerebral calcification and demyelination (Cockayne's syndrome): Report of a case with necropsy findings

Ⅰ．序

　臨床上，典型的なCockayne症候群（小頭症・侏儒症・類progeria・精神薄弱症・色素性網膜炎・聾など）ではなかったが，Cockayne症候群の神経病理学的特徴である斑状脱髄・脳内石灰沈着・小頭症を示した1症例を報告する。

After normal delivery a microcephalic girl presented mental retardation, spastic paraplegia, sunked eyes, visual impairment, corneal ulcer with dyspepsia, recurrent vomiting and bronchopneumonia. Death at the age of 9 years and 10 months. This clinical features showed no typical Cockayne's syndrome.