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

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.

The Efficacy of Topiramate in Benign Paroxysmal Torticollis of Infancy: Report of Four Cases

“…1 In some cases, a correlation with genes associated with familial hemiplegic migraine such as CACNA1A and PRRT2 has been reported. 5,7,22 A family history of a similar childhood syndrome, migraine, and motion sickness on the father's or mother's side is common as well. 6-9, 15, 16 The fact that BPT has a benign nature and is self-limited should not make treatment or management unnecessary.…”

“…5 Episodes disappear spontaneously, usually within a few hours or days; however, they may last up to 7 days or for only few minutes in some patients. 1,7 Various symptoms can occur during the episodes or rapidly afterward. Longitudinal studies have shown that children with BPT can later develop benign paroxysmal vertigo (with accompanying ataxia), which may next be followed by development of cyclic vomiting (so-called "abdominal migraine") and, finally, by more classic migraine.…”

“…5 The episodes occur spontaneously, are self-limited, and often have a specific regularity. 6,7 BPT is more prevalent in girls (∼70%), and most episodes occur in the morning. 1,8 These episodes usually begin between age 2 and 8 months, improve by age 2 years, and disappear by age 3 to 4 years.…”

“…1,5,9 As the child grows up, the attacks disappear, but they may be replaced by a modified form, including attacks of ataxia, benign paroxysmal vertigo of childhood, and, later in childhood, by migraine, other childhood periodic syndromes, or motion sickness disease. 1,6,7,10,11 Some of the nonheadache features of migraine such as vomiting, ataxia, pallor, irritability, malaise, apathy, drowsiness, photophobia, tears, nystagmus, and agitation may be associated with or rapidly follow the BPT attacks. 1, 4, 6-8, 12, 13 The presence of structural, genetic, and metabolic disorders should therefore be ruled abstract Benign paroxysmal torticollis (BPT) is a rare paroxysmal dyskinesia and 1 of the childhood periodic syndromes presenting with recurrent stereotypic episodes of torticollis, usually accompanied with some of the nonheadache features of migraine such as vomiting and ataxia.…”

Experimental Therapeutics for Dystonia

“…The genetic basis of the dt sz hamster is unknown but the mutation in the tottering mouse occurs in the Cacna1a gene, 81,82 a gene that is implicated in some forms of dystonia in humans. 83,84 Instead of chronic debilitating dystonia, these models exhibit episodes of generalized dystonia interspersed with relatively normal interictal periods, which allow them to maintain nutrition and hygiene. [85][86][87] Despite the severity of the dystonic attacks, both dt sz hamsters and tottering mice have relatively normal life spans so large colonies are easy to maintain.…”