• 期刊

BraChman-deLangeSyndrome：病例報告及文獻回顧

Brachmann-deLange syndrome。包括一、先天性畸形;二．生長遲緩;三、神經發展遲滯等三大特徵。其致病原因不明，一般為散發性．但極少數患者被發現第三對染色體q段有重新組合的現象或其它遺傳証據。本病例屬於典型的Brachmann-deLange syndrome”，有中間顏色較淡的眉毛融合．較同年齡兒童長的睫毛，寬而低的鼻樑，鼻夫上翹，長人中，薄上唇．嘴角下管，外耳道狹窄等臉部特徵;雙肘及兩側第二至五指間關節擘縮；頭胸圍，身高和體重皆在正常範圍百分之三以下；粗動作，細動作，語言及社會心理發展皆明顯遲緩。 有鑑於國外病歷報告並不少見，甚至有家長協會的成立，且有早期療癒價值；故回顧文獻資料以期能提高醫師的診斷力。

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第四胸椎脊髓膜瘤合併腰椎間盤凸出一病例報告

脊髓膜瘤(spinal menimgloma)是生長緩慢．界限清楚的良性腫瘤，約佔原發性脊髓腫瘤之25%．女性居多且大多位於胸椎。早期症狀以背痛最常見，其次是運動功能受損及感覺異常。脊髓膜瘤不易早期診斷．往往等到有明顯脊髓壓迫症候，才被診斷出來。約有三分之一的案例．診斷時已不能行走．所幸手術治療之效果良好．即使是嚴重截癱之病患．也有可能完全恢復功能。脊髓膜瘤很少鈣化．X-ray封診斷沒有幫忙．電腦斷層及磁振造彰則具有診斷性。術後復發牢比腦膜瘤更低，手術後五年內復發機率約1．3%。本文患者除了脊髓膜瘤之外．還有腰椎退化性病變．腰椎間盤凸出，右膝關節退化及攝護腺肥大。隨後之椎體症候．也僅出現在左下肢．右側則無．其原因可能是右側神經根受到椎間盤凸出壓迫所致。病患手術前已是截癱．須靠輪椅代步．小便失禁．大便須賴灌腸。脊髓已受嚴重壓迫．腫瘤已幾乎佔滿脊髓腔．然而手術後恢復之情形．仍是快速且令人滿意。 本文描述病患之臨床症狀．診斷與治療之經過反其預後．提醒臨床醫師．不要忽略詳細之理學檢查。

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週期性麻痺併甲狀腺毒症-病例報告

Periodic paralysis is a repetitive, transient muscle weakness syndrome. It lasts from minutes to several hours even for days. It often involves proximal and trunk muscle groups, but rare in ocular, bulbar muscles. There is a striking predilection for young males. EMG studies reveal relationships between periodic paralysis and muscle membrane deplarization, and there is compound muscle action potential decrease after vigorous exercise. Potassium imbalance between intracelluar space and serum is the probable reason for this phenomenon. About 2-30% periodic paralysis has connections with thyrotoxicosis. Hyperthyroidism victim is more easiler to affect periodic paralysis than normal one. As some symptoms of periodic paralysis are pre- ventable and curable, it deserves further investigation about the mechanism, course and treatment of periodic paralysis. This paper reports a 34-year-old young male victim suffering from recurrent transient attacks of muscle weakness in the last 3 months before admission. Each episode lasted from few hours to half a day. About 10 episods were noted during recent 3 months. The severity of symptoms varied from mild weakness to complete paralysis. The last attack with complete paralysis of both legs occurred 3 days before the OPD visit, but patient recovered before admission. Under the impression of spinal cord or other CNS lesion, some exams were done at other hosptial, including MRI and EMG. Both were normal. No definite conclusion was made then. After admission, hyperthyroidism (T3: 3.45 ng/ml, T4 15.4 ug/dl, TSH ＜ 0.05 ulU/ml), hand tremors, increased perspiration, body weight loss restlessness and heart systolic murmurs were found. Serum potassium concentration was normal. Thyroid. echo revealed Grave's disease. Carioecho showed HCVD with septal hypertrophy. Thyrotoxicosis with periodic paralysis was diagnosed. After intensive care, hyperthroidism was corrected and oral potassium agent was supplemented, the patient was discharged and followed up at OPD. Our conclusion is summarized as follows: Grave's disease is the most common cause of hyperthyroidism in thyrotoxicosis peroidic paralysis. Thyroid function test should be routinely monitered in patients with hypokalemic periodic paralysis. The. pathophysiology of thyrotoxicosis with peroidic paralysis is still not well understood. The paralysis may recur with the recurrence of the hyperthyroidism. Further investigation for this dramatic muscle paralysis disease is essential.

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骨發生不全病患之復健一病例報告

骨發生不全是一種遺傳性的結締組織病變，常侵犯骨骼、韌帶、皮膚、角膜及牙齒。它常會引起多發性骨折，並因其不適當之處置而造成患者關節擘縮、脊椎變形，甚者合併心肺功能障礙。其骨關節病變又會造成慢性而令人難以忍受之疼痛，這亦是導致病人功能障礙的原因之一。本研究報告一例廿歲的男性骨發生不全患者，自幼年起即常發生四肢長骨骨折，並由於脊椎變形嚴重，造成心肺功能障礙。病人在一次意外受傷後導致在左稅關節及左前臂骨折脆白，造成嚴重的疼痛，使其無法操作輪椅行動，如廁及沐浴等活動也需依賴他人協助。在經過適當的菜物及復健治療後，疼痛得以減低，功能恢復如前，使他重回工作崗位。

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大腦類澱粉血管病變:高齡患者腦出血之常見原因：病例報告

大腦類澱粉血管病變是類澱粉沉積於大腦血管壁所引起的血管病變，常見於老年人，亦是引起廟顱內出血的重要原因之一。其出血部位常是在大腦皮層或皮層下，有別於高血壓造成之顱內出血。據文獻記載約有5%至10%的非外傷性顱丙出止是因大腦類澱粉血管病變所引起，但由於其確切診所須藉助於病理切片，所以易被忽略或被誤診為腫瘤出血等較罕見的原因。大腦類澱粉血管病變所引起的顱內出血易有再發性，對這類患者如何避兔其再出血乃是最重要的課題。本文報告一例大腦類澱粉血管病變造成顱內出血的患者，從影像診斷上被判定是顱內腫瘤出血，因而接受頭顱切開街以去除血腫及腦組織切片，但病理切片發現為大腦類澱粉血管病變。我們特別提出其臨床過程，並採計其鑑別診斷及爾後預防出血的原則，以供參考。