Aim: To elucidate the natural course of benign paroxysmal torticollis, the relationship of this disorder to migraine and other paroxysmal diseases, and to analyse candidate genes.
Method: This was a case series of children with benign paroxysmal torticollis of infancy (BPTI) diagnosed from 1998 to 2005, at Astrid Lindgren Children's Hospital, Stockholm, Sweden. A neurological examination and a formalized motor assessment were performed from 2005 to 2007. At a second follow-up, in 2014 to 2015, the children and their parents were interviewed and candidate genes analysed.
Results: The mean age of the eight females and three males included in the second follow-up was 13 years 9 months (SD 2y 2mo). All motor assessments were normal. Five had developed migraine, abdominal migraine, and/or cyclic vomiting. Prophylactic treatment or migraine-specific medication during attacks were not needed. No paroxysmal tonic upgaze, benign paroxysmal vertigo, epilepsy, episodic ataxia, or paroxysmal dyskinesia was reported. Rare genetic variants in CACNA1A and ATP1A2 were found in two children. Five had a family history of migraine.
Interpretation: BPTI is transient and does not lead to neurological sequelae. Most children afflicted experience either a mild migraine or no paroxysmal disorder at all in their adolescence. Genetic variants in candidate genes were few, indicating potential genetic heterogeneity.
What this paper adds: After resolution of their benign paroxysmal torticollis of infancy (BPTI), children display no gross motor delay. Most adolescents who previously had BPTI have not developed migraine. No mutations in candidate genes, known to cause hemiplegic migraine, were found. Associated symptoms are often lacking during episodes of torticollis.
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