Abstract
We report 2 cases of a younger sister and an elder brother who have Werner's syndrome.
The 31-year-old sister stopped growing in junior high school and who received operations of both eyes for cataracts at the age of 17. Her menstruation stopped at the age of 25. She had no history of drinking alcohol. Her data showed GOT 58IU/L, GPT 113IU/L, ALP 310IU/L, γ-GTP 304.4IU/L, T-chol. 233 mg/dl and T. G. 255mg/dl.
The 34-year-old brother received operations of both eyes for cataracta at the age of 33. His data showed GOT 58IU/L, GPT 120IU/L, ALP 260IU/L, γ-GTP 75.1IU/L. T-chol. 166mg/dl and T. G.175mg/dl.
In both cases, 75g OGTT showed a diabetic pattern and IRI showed delayed hyperresponse. Faces of senility, loss of hair, flat feet, dermal ulcers and calluses were also observed. Their four limbs were slender but their trunks were slightly obese. X-ray revealed osteoporotic fingers and calcification of the Achilles' tendon. Ultrasound and CT-scan showed a fatty liver in both cases. Their laparoscopic findings revealed the followings. The liver were enlarged, smooth, dull and yellowish brown. Close-up view showed yellowish brown regions and reddish brown ones with terminal portal vein branches. Liver biopsy of the sister showed a fatty liver accompanied with P-P and P-C bridging fibrosis, but a fatty liver without bridging fibrosis was seen in the brother.
