Cervical instability in Klippel-Feil syndrome: case report and review of the literature

Abstract

Background: The authors present a case of cervical myelopathy and radiculopathy in the setting of multiple Klippel-Feil syndrome abnormalities treated surgically with a single-level C3-C4 anterior cervical discectomy and fusion. We discuss the clinical presentation, radiographic findings, and various treatment options for cervical spine abnormalities in Klippel-Feil syndrome. Case Presentation: This 22-year-old female with Klippel-Feil syndrome presented with intermittent neck pain, left upper extremity weakness, and paresthesias. Preoperative MRI, CT, and X-rays of the cervical spine revealed anterolisthesis at C3/4 with unstable movement on flexion and extension imaging. In addition, there were multiple segmental fusion abnormalities including hemivertebrae and other congenital fusion abnormalities. A C3-C4 anterior cervical discectomy and fusion was performed with intervertebral disc spacer. Adequate decompression was achieved with postoperative resolution of the patient's symptoms and improvement in neurological exam. Conclusions: Single-level anterior cervical discectomy and fusion can be utilized for treatment of cervical myelopathy and radiculopathy in the setting of multiple congenital Klippel-Feil syndrome abnormalities.

Cervical Spine Anomalies: Children in One of the Oldest Churches in Poland

“…Klippel–Feil syndrome is a complex and heterogeneous congenital condition with a variety of clinical manifestations. The incidence of KFS is approximately 1:42 000; it is slightly more common in women (60%) than in men (Lagravère et al ., ; Wessell et al ., ). KFS results from defective segmentation during prenatal development, between the third and eighth weeks of gestation (Tassabehji et al ., ).…”

“…Klippel–Feil syndrome was described for the first time in 1912 by Maurice Klippel and Andre Feil. It is known for a triad of symptoms including a short neck, limited neck movement, and a low posterior hairline (Henneberg & Otocki, ; Pany & Teschler‐Nicola, ; Wessell et al ., ). The clinical literature provides numerous reports on KFS (David et al ., ; Samartzis et al ., ; Tassabehji et al ., ; Thomsen et al ., ; Wessell et al ., ).…”

Klippel–Feil syndrome with associated cervical rib in a human skeleton from Wągrowiec (Poland, 14th–17th centuries)

“…KFS is considered a congenital condition predominant in females, which demonstrates significant diversity in clinical manifestations. The congenital fusion of the vertebrae in the cervical region of the spine, which is a characteristic of KFS, may be asymptomatic or may be related to many malformations and/or anomalies (see David et al, ; Wessell et al, ). In this syndrome, vertebral fusion results from the nonsegmentation of somites in the cervical region of spine between the third and eighth weeks of gestation.…”

“…In this syndrome, vertebral fusion results from the nonsegmentation of somites in the cervical region of spine between the third and eighth weeks of gestation. Although a genetic background has been suggested for KFS (Ravishankar, Suba Anathi, Radhakrishnan, & Muthusamy, ), its exact aetiology is not known (Wessell et al, ).…”

“…KFS is a rare genetic disorder with an occurrence estimated at 1:40,000–50,000 live births (Wessell, DeRosa, Cherrick, & Sherman, ). Although since the first description of the syndrome by Maurice Klippel and Andre Feil in 1912 (Henneberg & Otocki, ) a wide range of reports concerning the occurrence of this syndrome has been presented in the clinical literature (e.g., Samartzis et al, ; Wessell et al, ), relatively few have been presented in publications about archaeological material (e.g., Ortner & Putschar, ) and only two cases of KFS were derived from Poland—one of which was diagnosed in the skeleton of a child (Marchewka, Borowska‐Strugińska, Czuszkiewicz, & Kliś, ) and the other involved the case where only two cervical vertebrae were preserved (Gładykowska‐Rzeczycka, ).…”