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Rehabilitation Practice and Science

Translated Title

巴德－畢德氏症候群併發年輕型腦中風：病例報告

Abstract

Bardet-Biedl syndrome (BBS) is a rare inherited disease. Up to date, there have been 14 known BBS-related mutation genes, resulting in ciliopathy with multiple abnormalities such as obesity, pigmentary retinopathy, polydactyly, learning disabilities, poor coordination, renal dysfunction, diabetes and hypertension. This case was a 29-year-old male, who was diagnosed as Bardet-Biedl syndrome since childhood and then was followed up for control of complications. He suffered from stroke at age of 29. Risks of young stroke were surveyed. Poorly controlled hypertension, hyperlipidemia, hyperglycemia and hyperfibrinogenemia were noted. No other examination revealed abnormality. He had received treatment of stroke in acute phase, followed by inpatient rehabilitation programs. Because the retinopathy resulted in visual loss, visual compensation was not possible for him. Besides, BBS-associated poor coordination caused difficulty in rehabilitation. These features challenged to the rehabilitation team. Fortunately, this patient received significant improvement of motor function after rehabilitation training programs. Young stroke could cause significant morbidity and disability. Therefore, we suggest patient with BBS to receive early prevention of stroke and control of complications. We discuss the possible relationship of stroke in young patients and BBS, with particular consideration in rehabilitation management. (Tw J Phys Med Rehabil 2012; 40(2): 103 - 107)

Language

English

First Page

103

Last Page

107

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