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Benign paroxysmal torticollis of infancy

ORPHA71518
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Not applicable
Age of onset Childhood
ICD-10
  • G24.3
OMIM -
UMLS -
MeSH -
MedDRA -

Summary

Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children. The prevalence is unknown and the benign nature of the disorder probably means that it is underreported (only around 100 cases have been described in the literature so far). Onset occurs within the first year of life (often within the first three months) with episodes occurring between every few weeks and every few months. The duration of the torticollis varies between patients, but usually lasts from a few hours to a few days (although persistence for over one week has been reported). The torticollic episodes (in particular those of shorter duration) may by associated with other symptoms including vomiting, pallor, sweating, apathy or irritability, an unsteady gait, an upwardly-diverted gaze, abnormal truncal posture (tortipelvis) and contraction of the posterior neck muscles (retrocollis). The frequency and duration of the torticollic episodes decrease as the patient gets older and episodes usually stop completely by 5 years of age. The disorder usually occurs sporadically, but familial reoccurrence has been reported. The aetiology is unknown, however, the occurrence of BPTI in infants from families with a history of migraine or kinetosis, together with reports of later development of classic migraines or periodic paroxysmal syndromes (such as benign paroxysmal vertigo) in older children after the disappearance of BPTI, have led to the suggestion that BPTI is a paediatric migraine equivalent. In addition, mutations in the CACNA1A gene were identified in two BPTI patients from a family with a heredity hemiplegic migraine syndrome linked to mutations in this gene. Other aetiological hypotheses include an underlying vestibular disorder. As the disorder is benign and transient, extensive investigations should be avoided, although some diagnostic tests (electroencephalogram, brain ultrasound, computerized tomography, and ophthalmological and otorhinolaryngological examination), all giving normal results, may be required to exclude other causes of torticollis. The differential diagnosis should include epilepsy, Sandifer's syndrome (see this term) and tumours of the posterior fossa in cases with associated symptoms. As the disease is self-limiting and resolves spontaneously by mid-childhood, no treatment is required and parents should be informed that the prognosis is excellent.

Expert reviewer(s)

  • Pr Jaime CAMPOS-CASTELLÓ

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Detailed information

Clinical practice guidelines
  • EN (2011)Patient Inform
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