頁籤選單縮合
題名 | 岩藻糖血症第二型=Fucosidosis Type 2 |
---|---|
作者 | 張宏任; 涂玫音; 陳秀琴; 蘇信義; 林炫沛; | 書刊名 | 中華皮膚科醫學雜誌 |
卷期 | 19:3 2001.09[民90.09] |
頁次 | 頁225-232 |
分類號 | 415.641 |
關鍵詞 | 岩藻糖血症; 血管角質瘤; Fucosidosis; Angiokeratoma corporis diffusum; |
語文 | 中文(Chinese) |
中文摘要 | 岩藻糖血症是一種溶小體代謝物異常堆積疾患,病人因缺乏岩藻糖苷酶活緎,導致含岩藻糖的糖魯及糖蛋白累積在不同組織中,引起漸進性精神及運動功能退化、生長遲緩及瀰漫性體血管角質瘤。岩藻糖血症是一種極端罕見的體染色體隱性遺傳疾病,目前全世界文獻報告尚不到100例。我們報告一位17歲女孩,身材矮小,嚴重智能遲滯,自常出現呼吸道感染。病人從幼兒期起即出現粗糙臉部特徵,同時從軀幹發生逐漸增加的瀰漫性紫斑與紅色小丘疹,切片結果為血管角質瘤。此外我們也發現病人的甲床蒼白,指甲遠端有紫色橫紋。她的白血球α岩藻苷酶活性非常低(0.5 μ mol/g/hr(50-200))。因此我們診斷為一例岩藻糖血症。 |
英文摘要 | Fucosidosis is a rare lysosomal storage disease resulting from deficiency of α-L-fucosidase. The accumulation of fucose-containing glycolipids and glycoproteins in cvarious tissues gradually induces progressive psychomotor deterioration, growth retardation, and special skin presentation, namely, angiokeratoma corporis diffusm.Fucosidosis has autosomal recessive inheritance. Less than 100 cases were reported worldwide till now. We report a 17-year-old girl who suffered from short stature, severe mental retardation, coarse facies, recurrent upper respiratory tract infections since early childhood. Diffuse petechiae and rice-sized to pea-sized purpuric papules appared on the trunk since then and gradually became generalized. Skin biopsy revealed angiokeratoma. Pale nailbed and a transverse purple band at distal part of all finger nails were also noted. The α-L-fucosidase activity of leukocytes was extremely low (0.5 u mol/g/hr(50-200)).We diagnose her as a case of fucosidosis. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。