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Klippel-Feil Syndrome - a rare cause of torticolis - a case report

Klippel-Fiel syndrome is a disorder in which there is congenital fusion of variable numbers of cervical vertebrae and associated defects including scoliosis, renal anomalies, elevated scapula, congenital heart disease and deafness. Clinical presentation is varied because of all of the associated syndromes and anomalies that can occur. Neurological problems may develop in 20% of patients due to hypermobility at one level. Occipitocervical abnormalities are the most common cause of neurological problems. Torticollis and facial asymmetry occur in 21-50% of patients. We report a case of a 38 years old patient without a history of any serious disease who presented with torticollis with loss of extension. Clinical findings showed a short neck, decreased cervical ROM, a low hairline, elevated scapulas, congenital strabismus and hypoplasia of both thumbs. Imaging studies showed a fusion of C5-C7 vertebrae and narrowing of the lateral foramen. EMG findings showed dystonic activity in both sternocleidomastoid muscles. We searched thoroughly for all the possible accompanied renal, cardiovascular, osteoarticular and hearing anomalies. We found the tumorous mass in the area of suprarenal gland, implicating a pheochromocytoma. All the other anomalies were excluded. In this case there was no indication for a orthopaedic surgery because the amount of deformity and its location responded to a conservative treatment. Klippel-Feil is a frequent cause of torticollis in childhood but may present later in life, which was the case with our patient. The challenge to the clinician is to recognize the associated anomalies and to perform the appropriate workup of diagnosis.

Klippel-Feil Syndrome; torticolis; etiology; diagnosis

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