Benign Paroxysmal Torticollis: The Essentials

Benign paroxysmal torticollis is a rare migraine variant that is seen only in very small children. Symptoms usually appear in the first three months, starting with a tilted rotation of the head and an upward gaze. Irritability, vomiting, pallor (pale skin), malaise, and ataxia (loss of motor coordination) are common, too. Attacks can last from a few minutes to several days. At this point, there is no known treatment for the condition. Fortunately, the attacks often stop before the child enters school. Sometimes though, the affected child may develop benign paroxysmal vertigo, migraine with or without aura, or hemiplegic migraine. There is nearly always a family history of migraine.

Benign paroxysmal torticollis has been linked to mutation of the CACNA1A gene which has been implicated in the development of hemiplegic migraine. As the condition is so rare, not much is known about it. Families with a history of migraine, especially hemiplegic migraine, should be aware of the potential for this condition in babies. If symptoms appear, consultation with a pediatric headache specialist may be warranted.

ICHD-3 Diagnostic Criteria

Description: Recurrent episodes of head tilt to one side, perhaps with slight rotation, which remit spontaneously. The condition occurs in infants and small children, with onset in the first year.

Diagnostic criteria:

1. Recurrent attacks in a young child, fulfilling criteria B and C
2. Tilt of the head to either side, with or without slight rotation, remitting spontaneously after minutes to days
3. At least one of the following associated symptoms or signs:
   A. pallor
   B. irritability
   C. malaise
   D. vomiting
   E. ataxia
4. Normal neurological examination between attacks
5. Not attributed to another disorder.

Notes:

1. Attacks tend to recur monthly.
2. Ataxia is more likely in older children within the affected age group.

Comments: The child’s head can be returned to the neutral position during attacks: some resistance may be encountered, but can be overcome. The differential diagnosis includes gastro-oesophageal reflux, idiopathic torsional dystonia and complex partial seizure, but particular attention must be paid to the posterior fossa and craniocervical junction where congenital or acquired lesions may produce torticollis. These observations need further validation by patient diaries, structured interviews and longitudinal data collection. Benign paroxysmal torticollis may evolve into Benign paroxysmal vertigo or Migraine with aura (particularly Migraine with brainstem aura), or cease without further symptoms.

Sources:

1. Campos-Castello, Jaime (Sept 2007), Benign paroxysmal torticollis of infancy, Orphanet, retrieved online 20 Feb 2016 at http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=71518.
2. Giffin, N J MRCP, Benton, S, Goadsby, P J, (2007), Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. Developmental Medicine & Child Neurology, July 2002, Vol. 44, Issue 7, 490-493, doi: 10.1111/j.1496-8749.2002.tb00311.x, retrieved online 20 Feb 2016 at http://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.2002.tb00311.x/pdf
3. International Headache Society (IHS) (2018). 1.6.3 Benign paroxysmal torticollis. (n.d.). Retrieved April 23, 2018, from https://www.ichd-3.org/1-migraine/1-6-episodic-syndromes-that-may-be-associated-with-migraine/1-6-3-benign-paroxysmal-torticollis/.