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題名 | Type 1 G Gangliosidosis with Basal Ganglia Calcification: A Case Report=第一型G 神經節糖苷酶病合併基底核鈣化:一病例報告 |
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作者 | 陳珠瑾; 邱寶琴; 謝凱生; | 書刊名 | 中華醫學雜誌 |
卷期 | 62:1 1999.01[民88.01] |
頁次 | 頁40-45 |
分類號 | 417.582 |
關鍵詞 | 基底核鈣化; β-半乳糖苷酶; 櫻桃紅斑; 肝脾腫大; 骨骼異常; 第一型G 神經節糖苷酶病; Basal ganglia calcification; β-galactosidase; Cherry red spot; Hepatosplenomegaly; Skeletal dysplasia; Type 1 G gangliosidosis; |
語文 | 英文(English) |
中文摘要 | 本文描述一位10個月大的男嬰,因全身性抽筋發作及吸入性肺炎在本院治療。此 嬰兒自4個月大起出現發育遲滯、進行性肌張力低下及肝脾腫大,曾到他院檢查但無確定診 斷。物理檢查顯示有大頭(頭圍達第97個百分位)、前額突出、鼻樑塌陷、肝脾腫大、手掌 寬大及手指短小。神經學檢查發現有全身性肌張力低下、視覺追尋不佳、肌肉無力、深部肌 腱反射增強及Babinski徵存在。骨骼X光檢查出現類似黏多糖病的病變,週邊血液抹片發 現有空泡性淋巴球。最後經酵素活力測試檢查證實缺乏β-半乳糖���’荈E斷為第一型G 神經節糖���*f。其頭部電腦斷層檢查發現有廣泛的腦萎縮、腦室擴大及雙側基底核鈣化。 回顧文獻,尚未有第一型G 神經節糖���*f基底核鈣化的病例報告。本文建議,一旦臨床 上遇到病人出現早期神經功能退化、外觀異常及肝脾腫大,同時合併有基底核鈣化,可將第 一型G 神經節糖���*f納入鑑別診斷。 |
英文摘要 | This report concerns a 10-month-old boy, admitted to the Veterans General Hospital- Kaohsiung with generalized tonic convulsion and aspiration pneumonia. He was found to have had developmental regression, progressive hypotonia and hepatosplenomegaly since four months of age. Physical examination revealed a large head circumference (97th percentile), frontal bossing, depressed nasal bridge, hepatosplenomegaly, broad hands and short fingers. Neurologic examination showed poor control of eye movement, profound hypotonia, muscle weakness, brisk deep tendon reflexes and Babinski's sign. Hypoplasia of the vertebral bodies with anterior beaking, wedge-shaped metacarpals, spatulated ribs and a J-shaped sella turcica were displayed on bone radiographs. Cranial computerized tomography scans showed diffuse brain atrophy, dilated ventricles and calcification of the bilateral basal ganglia. Vacuolated lymphocytes were noted in a peripheral blood smear. Type 1 G gangliosidosis was diagnosed based on a deficiency of β-galactosidase activity. To our knowledge, basal ganglia calcification in type 1 G gangliosidosis has never been reported in the literature. We suggest that type 1 G gangliosidosis be considered in the differential diagnosis of patients with an early onset of neurologic decline, organomegaly and basal ganglia calcification. ation. |
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