Alström病

A case of Alström disease

　Alström病と考えられる症例を報告した．症例は現在37歳の男性で，両眼網膜色素変性症，肥満，感音性難聴，糖代謝異常，腎疾患，性腺機能不全，高尿酸血症，骨格異常，平衡機能低下，多合指症及び短指症を認めた．Alström病は世界でも少数の報告しかなく，貴重な症例と考えた．

Dept of Ophthalmol, Mitsubisi Kyoto Hosp A 28-year-old male manifested typical clinical features of pigmentary retinopathy. The familial history was negative. The patient manifested polydactyly in all the extremities at birth. Night blindness and photophobia had been present since the age of 4.

The patient manifested, in addition, obesity,perceptive deafness, hyperinsulinemia, renal dysfunction, hyperuricemia, hypogonadism, skeletal anomalies and equilibrium disturbances. We diagnosed the patient as typical instance of Alström disease, the fifth reported case in Japan.