A Cervical Dystonia Mimic: Congenital Muscular Torticollis (Fibromatosis Colli) in Adulthood (P01.242)

Objective: To report 2 patients with fibromatosis collis misdiagnosed in adulthood as cervical dystonia. Neither of them had known history of perinatal injuries. Background Congenital muscular torticollis (CMT), also referred to as fibromatosis colli, applies to neck deformity from shortening of the sternocleidomastoid (SCM) muscle, typically detected at birth or during infancy or childhood. Mild cases may be first recognized among adults, potentially misdiagnosed as cervical dystonia. Design/Methods: Case 1: This 31-year-old woman exhibited a fixed left head tilting and turning with limited cervical range of motion since childhood. Headaches and back pain were associated sources of disability. There was no sensory trick or abnormal posturing of other body segments. Botulinum toxin only induced excessive neck weakness. Palpation of her neck musculature revealed a nontender, taught fiber within the left SCM muscle. Case 2: This 37-year-old woman noted right head turning and bilateral shoulder pain since her first pregnancy, at the age of 26. There was no sensory trick or abnormal posturing of other body segments. Palpation of her neck musculature revealed a nontender, taught fiber within the right SCM muscle. Results: Both patients worsened with intra-SCM botulinum toxin injections but experienced substantial relief of their torticollis after undergoing partial myectomy of the SCM muscle. Biopsy in both cases demonstrated fibrous transformation. Conclusions: CMT can mimic cervical dystonia by causing fixed torticollis with decreased range of cervical motion. This disorder may remain undiagnosed until adulthood. Patients respond to myectomy but not to chemodenervation with botulinum toxin. Disclosure: Dr. Gonzalez Usigli has nothing to disclose. Dr. Kendler has nothing to disclose. Dr. Espay has received personal compensation for activities with Solvay S.A., Abbott Labratories, Inc., Chelsea Therapeutics, TEVA Neuroscience, Eli Lilly & Company, Novartis, the American Academy of Neurology and the Movement Disoriders Society. Dr. Espay has received personal compensation in an editorial capacity for serving on the editorial board of The European Neurological Journal and Frontiers in Movement Disorders. Dr. Espay has received research support from K23 Research Scholars mentored career development awards, Medtronic, CleveMed, Davis Phinney Foundation and Michael J Fox Foundation.