Klippel-Trénaunay-Weber症候群

Klippel-Trénaunay-Weber Syndrome: Extradural Arachnoid Cyst, Nevus Flammeus, and Hemihypertrophy

本文介紹一名Klippel-Trénaunay-Weber （KTW）症候群的案例，並建立後續追蹤之建議。KTW症候群為一罕見先天性疾病，其特徵為葡萄酒紅斑、血管瘤、靜脈曲張及淋巴畸形，以及肢體半邊肥大。神經學影像異常的病患可能同時合併神經學異常。本文介紹一名十一個月大男童，合併有肢體半邊肥大以及葡萄酒紅斑。我們為他安排了腦部磁振造影（MRI）檢查，發現後顱窩有一蜘蛛網膜囊腫，而病童並沒有神經學異常。我們建議當看到病重合併有肢體半邊肥大及葡萄酒紅斑，應安排腦部影像學檢查，且必須長期追蹤病重的神經學症狀及神經發育。

KTW syndrome is a rare congenital disorder with port-wine stain, hemangioma, venous and lymphatic malformation, and hemihypertrophy. Patients with abnormal neuroradiographic findings might present with neurological deficits. However, some cases may not be diagnosed until adulthood because of the obscure symptoms. More famililarity with Klippel-Trénaunay-Weber (KTW) syndrome is needed. Herein we report a case of KTW involving an 11-month-old boy with hemihypertrophy and port-wine stains. Based on recommendation by studies of neurocutaneous syndromes, we performed a brain magnetic resonance imaging (MRI) examination for the boy. A large arachnoid cyst in the posterior fossa was found incidentally, though no neurologic deficits were found at that time. We recommend brain image studies when encountering a child with hemihypertrophy and port-wine stain. Long-term follow-up for the neurodevelopment is warranted in these children.