Introduction: Spasmodic torticollis in young patients should give rise to a clinical suspicion that this is secondary to another primary disorder. Therefore a series of diagnostic tests should be carried out before it is labelled as idiopathic.
Clinical case: The patient was a thirty year old man who had had difficulty in writing with his right hand since childhood. At the age of 20 years he was diagnosed as having writer's cramp and idiopathic spasmodic torticollis. On general physical examination no abnormalities were found. On neurological examination he had: absence of reflexes of both arms, limited but painless rotation of the neck towards the left and hypertrophy of the left trapezius muscle. Laboratory, neurophysiological and neuroimaging investigations seeking a secondary cause for the torticollis were all normal. There were no Keyser-Fleischer rings. Chest X-ray showed, dorsal scoliosis with convexity to the left. CAT and MR of the spine showed a hemangioma in the body of T1. On arteriography of the supra-aortic and vertebral trunks a hemangioma was found at T1 which received contrast material via a branch of the right thyro-bi-cervico-scapular trunk. Various treatments were tried (diazepam, Botox, Dysport, tetrabenazine, baclofen, etc.) with no improvement. A definite diagnosis of secondary torticollis could not be made since the hemangioma was supplied by a very narrow vascular pedicle, so embolization was contraindicated.
Conclusion: Cervical spinal cord alterations may cause focal dystonia due to increased excitability of the spinal motor neurone, due to dysfunction of the disinhibitory descending reciprocal paths.