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題 名 | 腦顱皮膚脂肪增多症引起嬰兒之雙上肢無力:病例報告=Weakness of Bilateral Upper Limbs since Birth Caused by Encephalocraniocutaneous Lipomatosis: A Case Report |
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作 者 | 吳宜賢; 汪家齊; 李羚榕; 阮惠群; | 書刊名 | 臺灣復健醫學雜誌 |
卷 期 | 42:2 2014.06[民103.06] |
頁 次 | 頁129-133 |
分類號 | 417.569 |
關鍵詞 | 腦顱皮膚脂肪增多症; 脂肪增多症; 脂肪瘤; Encephalocraniocutaneous lipomatosis; ECCL; Lipomatosis; Lipoma; |
語 文 | 中文(Chinese) |
中文摘要 | 腦顱皮膚脂肪增多症(Encephalocraniocutaneous lipomatosis,以下簡稱ECCL)是一種很少見先天的神經皮膚症候群(neurocutaneous syndrome),臨床特徵包含了腦部脂肪瘤(cranial lipomas)、眼睛的脂質皮樣表現(lipodermoids)及腦部結構的異常(brain abnormalities)等表現。本病例報告為20天大的足月產女嬰,家人因其雙側上肢無力來就醫,臨床檢查發現右側臉頰、眼睛、肢體及會陰部有類似脂肪瘤的腫塊,經腦部脊髓核磁共振檢查顯示枕骨大孔到第九節胸椎的硬腦膜脊髓內脂肪增多症(intradural and intramedullary spinal lipomatosis from C0 to T9),右側小腦橋腦角(cerebellopontine angle)及中顱窩處(middle fossa)也可看到脂肪瘤,符合ECCL的臨床特徵。女嬰於一個月大時接受減壓開顱及椎間板切除手術,將脂肪瘤切除(decompressive suboccupital craniectomy and C1-T9 laminectomy for removal of intrameduallary lipomas),切除的腫瘤病理報告證實是脂肪瘤。術後雙上肢肌力逐漸改善,雖持續接受一年多的復健治療,仍有動作發展遲緩的情形。ECCL的脂肪瘤屬非進展(non-progressive)的良性腫瘤,不會變成惡性,但在中樞神經的脂肪瘤可能造成癲癇、智能及肢體等障礙,建議應持續追蹤其病程發展。本文提出此病例報告,並針對ECCL的相關文獻作回顧與討論,以供臨床參考。 |
英文摘要 | Encephalocraniocutaneous lipomatosis (ECCL) is a very rare neurocutaneous syndrome with hallmark lesions including cranial lipomas, ocular lipodermoids and brain abnormalities. ECCL was first described by Haberland and Perou in 1970, and it is sometimes referred to as Haberland syndrome. The genetics of ECCL are unknown, however it is generally considered to be a genetically mosaic condition. Herein, we report the case of a 20-day-old infant girl who presented with weakness of bilateral upper limbs since birth. Subcutaneous masses over her right cheek, eye, inguinal area and limbs were also noted on examination. Brain and spinal magnetic resonance imaging revealed intradural and intramedullary spinal lipomatosis from C0 to T9 as well as lipomas in the right cerebellopontine angle and middle fossa region. The clinical manifestations were compatible with ECCL. The patient underwent posterior decompressive suboccupital craniectomy and laminectomy from C1 to T9 to remove the intramedullary lipomas at one month of age, and the subsequent pathological findings consisted of lipomas. Postoperatively, the weakness of both upper limbs gradually recovered. The patient received physical therapy and occupational therapy for more than one year. However, a delayed development of motor skills was still diagnosed at 20 months of age. Although lipomas in the central nerve system are non-progressive benign tumors, they may cause epilepsy, delayed psychomotor development and motor impairment. Long-term monitoring of these patients for clinical manifestations is advised. Conditions such as hydrocephalus, cervicomedullary compression, tethered cord and scoliosis may be indications for surgery during the patients' lifetime. We present the clinical findings of ECCL and review the related literature. |
本系統中英文摘要資訊取自各篇刊載內容。