Surgical treatment in a patient with Klippel-Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature.

ABSTRACT

INTRODUCTION: Klippel-Feil syndrome (KFS) is considered a rare developmental disorder characterized by mono- or multisegmental fusion of the cervical vertebrae which is frequently associated with diverse non-osseous, e.g. neural, visceral, cardiopulmonary and genitourinary development anomalies. Anterior cervical meningomyelocele (MMC) in KFS has only been described in two previous patients, both with non-surgical treatment. CLINICAL PRESENTATION We present the case of a 26-year-old female suffering from KFS, presenting with progressive bilateral C6 paraesthesias, C7 and C8 motor weakness and myelopathy. Radiological imaging revealed incomplete osseous fusion of the vertebrae C2-Th1. The spinal cord was displaced ventro-caudally through a large anterior MMC, apparently fixed at the dorsal oesophagus, severely stretching the cervical nerve roots. Surgery was indicated due to progression of the symptoms and was performed through a combined partial sternotomy and ventral anterolateral cervical approach. Intraoperatively, both division of oesophago-dural adhesions and intradural untethering of adhesions of the myelon with caudal parts of the cele were performed. Evoked somatosensory potentials improved immediately and 6-day postoperative MRI revealed a nearly complete reposition of the spinal cord in its physiological position. Genetic sequence analyses ruled out mutation of the growth and differentiation factor 6 (GDF6). Apart from slight intermittent paraesthesia, symptoms resolved almost completely within weeks after operation. Both radiological and neurological improvement remained stable at 16 months of follow-up. CONCLUSION: KFS with anterior cervical MMC is rarely seen and may require surgery in case of clincial signs of nerve root compression or myelopathy. Osseous decompression, untethering and adhesiolysis under electrophysiological monitoring can provide sufficient radiological and clinical improvement.