Sjögren-Larsson症候群の1例

A Case of Syndrome of Sjögren-Larsson

I．緒言

　本症候群は，Sjogren, T．とLarsson, T．^1）が1957年に初めて記載したもので，精神薄弱，先天性魚鱗癬様紅皮症および先天性痙性麻痺を3主徴候とし，時に，黄斑部の変性を伴なうことがあるとされる。その後，同様な症例が，世界各国から報告され^2）〜19），文献上記載の明らかなものが，既に63例に達しているが，今回の症例は，本邦においては，初めての報告である。

A 12-year-old male was diagnosed as syn-drome of Sjögren-Larsson. Besides the classical triad of idiocy, congenital ichthyotic erythe-matosis and spastic palsy, peculiar macular degeneration was present consisting of disse-minated drusen-like yellow patches in the ma-cular area surrounded by grayish zone in both eyes. The visual acuity was 0.5 in each eye. ERG findings were unequivocal. The patient was offspring of consanguinous marriage.

The case is the first of its kind to be repor-ted in Japan. Studies of literature indicate that the observed fundus finding is a frequent com ponent of the syndrome.