以斜頸為主要臨床表徵之Klippel-Feil症候群－－病例報告

Bilateral Torticollis Caused by Klippel-Feil Syndrome-A Case Report

先天性斜頸在新生兒之先天性異常中並不罕見，絕大多數之患者為先天性肌肉性斜頸，且鮮少合併其他器官、系統之異常，其治療亦較為單純。極少數的患者，尤其是Klippel-Feil症候群，可能合併有臉部發展異常、心血管系統、神經系統、泌尿生殖系統及骨骼系統的異常等等。本文報告一個8歲的小女孩，因雙側斜頸前來就診，經影像學檢查診斷為Klippel-Feil症候群，患者除了骨骼系統的異常外，未合併有其他器官、系統的異常。對於一個先天性斜頸的患者，我們應確認其是否為單純之肌肉性斜頸，檢查是否合併有其他器官、系統之異常，因為早期發現及治療，對於其餘的先天性病變可預防併發症的產生。

Congenital torticollis is not uncommon among neonatal anomalies. Most of the cases are congenital muscular torticollis. They are seldom associated with other organs or systems disorders. Klippel-Feil syndrome is a congenital synostosis of cervical vertebrae and is an uncommon cause of congenital torticollis. Patients with Klippel-Feil syndrome usually associate it with congenital anomalies of cerebrovascular, nervous, urogenital or musculoskeletal systems. We report on a case of an 8-year-old girl of Klippel-Feil syndrome presenting with bilateral torticollis. There was no associated anomaly except skeletal disorders. It is important to differentiate torticollis that is secondary to congenital changes of the cerviclal spine from those due to muscular contracture. Early diagnosis and comprehensive treatment could prevent complications.