Sjögren-Larsson症候群の1例

A CASE OF SJÖGREN-LARSSON SYNDROME

Ⅰ．はじめに

　1956年Sjögrenは北スエーデンの精神薄弱施設で魚鱗症，中〜高度の精神薄弱，脳性麻痺を合併した5例を認め，これらのうち2例に眼底変化を伴うことを知つた。更に彼はLarssonと共に全国的調査を行ない，同様症例を28例発見しこれらをSjögren-Larsson症候群として報告した^1）。これらのものは3例を除いてスエデーン北部のVästerbotten州にかぎられていたが，その後同様な症例は世界各地から報告されている^2〜17）。本邦には未だ同様症例の報告はないが，我々は最近本症候群と考えられる1症例を経験したので報告する。

A boy, aged 12, was noted soon after birth to have generalized skin anomaly. An aunt was afflicted with congenital deaf and dumb. The child had a small stature and was thin and he appeared to be retarded. His legs were atrophic and asymmetric in length, showed bilateral clubfeet and positive pathological reflexes. There were moderate hyperkeratosis and scaling on the almost entire body surface but no noticeable change in the epidermal skin appendages.

Skin biopsy revealed marked hyperkeratosis and follicular keratotic plugging. Ophthal-moscopic examination showed characteristic degeneration of the macula and its surroundings. The patient has been classified as idiot and encephalographies showed abnormal findings which are quite similar to those seen in the case of epilepsy. Laurie acid content in serum was high.

This case characteristically showed generalized congenital ichthyosis, cerebral paralysis, mental deficiency, and alterations of the fundi oculi. It was diagnosed as Sjögren-Lasson syndrome.

Since Sjögren and Larsson first described in 1957, 63 cases have been reported in the world literatures and this is the first case reported in Japan. Although it has been considered that the condition is autosomal recessive in inheritance because of the close relationship between the onset and the consanguinity, a metabolic anomaly is now assumed as a cause.