Atlantoaxial rotatory subluxation (AARS) is a rare cause of torticollis, more common during childhood, due to anatomical predisposition and increased ligament laxity, and usually resulting from forceful rotational trauma, as can occur with chiropractic manipulation. 1 Nontraumatic forms are also recognized, commonly associated with excessive ligament laxity, either congenital, eg, osteogenesis imperfecta, Down's, Morquio, or Marfan's syndrome; or acquired, resulting from local or systemic inflammation (Grisel's syndrome, rheumatoid arthritis, systemic lupus erythematosus). 2,3 Here we present a patient with primary young-onset cervical dystonia and joint hypermobility syndrome (JHS) complicated by AARS.
A 17-year-old girl presented in February 2006 with torticollis to the left. Brain and cervical spine magnetic resonance imaging (MRI) and blood tests, including copper studies, acanthocytes, and thyroid function, were normal. There was no family history. She was diagnosed with primary cervical dystonia and treated with botulinum toxin (BT) injections with complete resolution of her symptoms after 2 sessions. After a longstanding remission she relapsed in June 2010, aged 21 years. Repeated brain and neck MRI were normal and she again received BT with good response. In September 2010, 4 days after her follow-up injections, she awoke with painful fixed torticollis. Treatment with diazepam, baclofen, and codeine prescribed by her general practitioner (GP) was unsuccessful. She had fixed torticollis to the left of nearly 90-degrees (see Video)