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

Autori
Roje-Bedeković, Marina ; Bosnar-Puretić, Marijana ; Knežević, Marija ; Blažić-Čop, Nevenka ; Demarin, Vida

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, pregledni

Izvornik
37th International Danube Symposium for Neurological Sciences and Continuing Education / Pirtošek, Zvezdan - Ljubljana : Neurological Association and Society of Clinical Neurophysiology of the Slovene Medical Association, 2005, 2005

Skup
37th International Danube Symposium for Neurological Sciences and Continuing Education combined with a Satellite "Stroke Symposium"and 21st Dr. Faganel Memorial Lecture

Mjesto i datum
Ljubljana, Slovenija, 05.08.2005

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Klippel-Feil Syndrome; torticolis; etiology; diagnosis

Sažetak
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.

Izvorni jezik
Hrvatski

Znanstvena područja
Kliničke medicinske znanosti

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