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Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation

Published online by Cambridge University Press:  06 August 2002

N J Giffin ,
S Benton  and
P J Goadsby
N J Giffin
Affiliation:
Headache Group, Institute of Neurology, Queen Square, London, UK.
S Benton
Affiliation:
Department of Paediatric Neurology, Hospital for Sick Children, Great Ormond Street, UK.
P J Goadsby
Affiliation:
Headache Group, Institute of Neurology, Queen Square, London, UK.
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Abstract

Benign paroxysmal torticollis of infancy (BPTI) is a disorder characterized by recurrent episodes of head tilt secondary to cervical dystonia. Attacks are often accompanied by vomiting, pallor, and ataxia, settling spontaneously within hours or days. Episodes begin within the first 12 months of life and resolve by 5 years. We report four patients with BPTI. Symptoms started from 3 months of age, with head tilting lasting between 10 minutes and 2 months; the shorter episodes were followed by vomiting, apathy, and unsteadiness. Head tilt became less prominent after infancy, replaced by vertigo and eventually by migraine headaches. Two patients came from a kindred with familial hemiplegic migraine linked to CACNA1A mutation. BPTI may be regarded as a migraine aura equivalent. The syndrome poses interesting questions regarding varying phenotypic expression of calcium channelopathies at different stages of development.

Type
Case Reports
Information
Developmental Medicine and Child Neurology , Volume 44 , Issue 7 , July 2002 , pp. 490 - 493
Copyright
© 2002 Mac Keith Press

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