• Etymology and Definition

  • The name "torticollis" comes from the Latin words "tortus" (twisted) and "collum" (neck).
  • Torticollis typically involves the head being tilted to one side and rotated so that the chin points to the opposite side.
  • It is a common manifestation of cervical dystonia in adults.

• Clinical features

  • First recognized in 1969 by Snyder, who described 12 affected children.
  • Onset typically occurs between 2 and 8 months of age.
  • Recurrent attacks of torticollis last from 10 minutes to 14 days, most often 2-3 days.
  • Head turn can be to either side.
  • Frequency: 2-3 attacks per month, with children being normal between episodes.
  • Seven of the 12 children experienced symptoms like vomiting, pallor, and agitation at the onset of attacks; the other five appeared content unless their head position was forcibly corrected.
  • Episodes generally stopped spontaneously by 2-3 years of age, with variation:
    • One child: episodes stopped at 10 months.
    • Another: episodes ceased at 5 years of age.
  • Older children sometimes reported the sensation that the "house was turning," and ataxia was noted in four children during episodes.
  • EEG and neuroimaging studies are typically normal in BPTI cases.

• Snyder’s Findings and Subsequent Research

  • Snyder performed caloric testing, which indicated labyrinthine dysfunction as a possible underlying cause.
  • Subsequent studies noted additional features, such as:
    • Lateral curvature of the trunk and retrocollis (Chutorian, 1974).
    • Affected siblings (Lipson and Robertson, 1978).
    • Regular occurrence with predictable timing (Sanner and Bergström, 1979).
    • Female predominance and early morning onset (Hanukoglu et al., 1984).
    • Drigo et al. (2000) observed that:
      • Episodes occurred on awakening in only half of the cases.
      • Only 27.3% of cases had head turn to the same side consistently.
      • Half of the children had tortipelvis.
      • They described a subset of episodes similar to Cataltepe and Barron's (1993) descriptions, characterized by sudden onset with head and eye turning, rapid blinking, flexing of upper limbs, and tears.
  • Drigo et al. (2000) proposed two forms of BPTI:
    • Periodic torticollis lasting several hours or days.
    • Paroxysmal form lasting only minutes, with ocular signs.

• Rosman et al. (2009) Study

  • Reviewed 103 cases from literature and described ten personal cases.
  • Found that:
    • Five of the ten children had gross motor delay, and three had fine motor problems.
    • Symptomatic treatment was generally ineffective.
    • Caloric and audiometric testing were normal in most cases.

• Treatment

  • Yaghini et al. (2016) noted four children responding well to topiramate.

• Diagnostic and Differential Diagnosis

  • Kimura and Nezu (1998) suggested BPTI is a dystonic phenomenon.
  • BPTI is considered an early manifestation of migraine or part of periodic syndromes of childhood.
  • Differential diagnosis includes:
    • Seizures, vertigo, gastroesophageal reflux, Sandifer syndrome.
    • Dystonic reaction to drugs, ocular abnormalities (e.g., fourth cranial nerve palsies).
    • Posterior fossa and craniocervical junction abnormalities (e.g., atlanto-axial instability, Arnold-Chiari malformation, posterior fossa tumors).

• Genetic Studies and Findings

  • Drigo et al. (2000) suggested a possible channelopathy.
  • Giffin et al. (2002) reported a father and son with BPTI and CACNA1A gene mutations.
  • Cuenca-León et al. (2008) described a patient with BPTI and CACNA1A mutation who later developed other conditions.
  • Roubertie et al. (2008) reported a family with various presentations including BPTI and CACNA1A mutations.
  • Vila-Pueyo et al. (2014) noted BPTI with loss of function mutations in the CACNA1A gene.
  • Dale et al. (2012) described a child with BPTI and PRRT2 mutation who later developed infantile seizures.

• Conclusion

  • BPTI is a clinical syndrome with diverse manifestations and multiple etiologies.
  • Careful assessment is required due to the wide variety of presentations and potential underlying causes.

• References

  • Chutorian AM (1974) Benign paroxysmal torticollis, tortipelvis and retrocollis of infancy. Neurology 24: 366–7.
  • Dale RC, Gardiner A, Antony J, Houlden H (2012) Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol 54: 958–60.
  • Cuenca-León E, Corominas R, Fernàndez-Castillo N, et al. (2008) Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar type migraine and childhood periodic syndromes. Cephalalgia 28: 1039–47.
  • Drigo P, Carli G, Laverda AM (2000) Benign paroxysmal torticollis of infancy. Brain Dev 22: 169–72
  • Giffin NJ, Benton S, Goadsby PJ (2002) Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. Dev Med Child Neurol 44: 490–3.
  • Hanukoglu A, Somekh E, Fried D (1984) Benign paroxysmal torticollis in infancy. Clin Pediatr 23: 272–4.
  • Kimura S, Nezu A (1998) Electromyographic study in an infant with benign paroxysmal torticollis. Pediatr Neurol 19: 236–8.
  • Lipson EH, Robertson WC (1978) Paroxysmal torticollis of infancy: familial occurrence. Am J Dis Child 132: 422–3.
  • Roubertie A, Echenne B, Leydet J, et al. (2008) Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family. J Neurol 255: 1600–02.
  • Rosman NP, Douglass LM, Sharif UM, Paolini J (2009) The neurology of benign paroxysmal torticollis of infancy: report of 10 new cases and review of the literature. J Child Neurol 24: 155–60
  • Sanner G, Bergström B (1979) Benign paroxysmal torticollis in infancy. Acta Paediatr Scand 68: 219–23
  • Snyder CH (1969) Paroxysmal torticollis in infancy. A possible form of labyrinthitis. Am J Dis Child 117: 458–60
  • Vila-Pueyo M, Gené GG, Flotats-Bastardes et al. (2014) A loss-offunction CACNA1A mutation causing benign paroxysmal torticollis of infancy. Eur J Paed Neurology 18: 430–3.
  • Yaghini O, Badihian N, Badihian S (2016) The efficacy of topiramate in benign paroxysmal torticollis of infancy: report of four cases. Pediatrics 137 pii: e20150868.

Cite this: 

Cite this: CNKE contributors.Benign Paroxysmal Torticollis of Infancy. CNKE.org, The Child Neurology Knowledge Environment. 29 December 2024. Available at: https://cnke.org/articles/270 Accessed  29 December 2024.