A Young Stroke Patient with Bardet-Biedl Syndrome: A Case Report

巴德－畢德氏症候群併發年輕型腦中風：病例報告

陳爾駿(Erh-Chun Chen) ； 陳天文(Tien-Wen Chen) ； 翁銘正(Ming-Cheng Weng) ； 李佳玲(Chia-Ling Lee)

《台灣復健醫學雜誌》 40卷2期 (2012/06) Pp. 103-107

https://doi.org/10.6315/2012.40(2)07

摘要

巴德－畢德氏症候群為一少見的遺傳性疾病，現已經發現缺陷的十四處基因，主要造成纖毛病變，臨床上病人有多重功能異常，例如肥胖、色素性視網膜病變、多指趾畸形、學習障礙、動作協調性異常、腎功能不佳、糖尿病和高血壓。此病例為一名二十九歲的男性，出生後即診斷為巴德－畢德氏症候群，隨後在小兒科追蹤並控制併發症。在二十九歲時發生年輕型梗塞性腦中風，而中風的危險因子檢查，除了血糖，血壓及血脂控制不佳，及纖維蛋白原上升，其他檢查並無異常，經急性期的中風治療，繼續接受住院復健。此病患因為視網膜病變造成雙眼失明，視覺無法代償動作的控制，並且巴德－畢德氏症候群合併的動作協調性異常，不利於運動訓練，這都是對復健治療團隊的挑戰。經復健後病人的運動功能及日常生活功能均有明顯進步。中風造成病人明顯的障礙，故建議對於巴德－畢德氏症候群必須及早預防中風及控制併發症。在此我們也討論年輕型中風和巴德－畢德氏症候群的可能相關性，以及復健處置的特殊考量。（台灣復健醫誌2012；40(2)：103 - 107）

關鍵字

巴德－畢德氏症候群（Bardet-Biedl syndrome） ； 中風（stroke） ； 復健（rehabilitation）

並列摘要

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)

並列關鍵字

Bardet-Biedl syndrome ； stroke ； rehabilitation