Transient idiopathic dystonia in infancy

Abstract

Aim: Review of transient idiopathic dystonia cases to improve knowledge on this entity, in relation to frequency, characterization and evolution.

Methods: Retrospective review and characterization of clinical cases seen in paediatric neurology consultation, diagnosed with transient idiopathic dystonia, between February 2001 and June 2009, using clinical files complemented with photographic records and updated information through the physician.

Results: Thirteen infants were referred to the paediatric neurology consultation over a period of 8 years, for asymmetric tone, posture and movements of the upper limb with onset before 6 months, with spontaneous favourable evolution and disappearance without sequelae, although the reason for referral was, in most cases, the suspicion of a hemiplegic cerebral palsy.

Conclusion: Transient changes of tone, posture and movement can be observed during the first months of life. Differential diagnosis is extensive and complex, based on a careful history and neurological examination. Distinction between neurological, neuromuscular and orthopaedic pathology is difficult, particularly at the onset of clinical manifestations. The cases presented are similar to those previously reported by Willemse and Deonna, classified as transient idiopathic dystonia of childhood. Pathophysiology is unknown; some findings support a genetic susceptibility to functional imbalance in brain neurotransmitters and synaptogenesis.