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Journal of Pediatric Neurology 8 (2010) 69–71 69

DOI 10.3233/JPN-2010-0365
IOS Press

Paroxysmal torticollis
Sheikh Nigel Basheer ∗
Department of Pediatric Neurology, The Royal London Hospital, Whitechapel, London, UK

Received 30 September 2008


Revised 20 January 2009
Accepted 28 January 2009

1. Introduction unknown. Although not frequently observed in pedi-


atric practice, Al-Twaijri and Shevell [3] reported that
Paroxysmal torticollis (PT) is a benign transient and PT represented approximately one in 500 referrals to
recurrent principally focal cervical dystonia of child- their ambulatory pediatric neurology service; 1% of all
hood first described in the medical literature in the children seen with migraine or migraine variant, and
1960’s [1]. Snyder [1] recognized that PT was a benign accounting for 10% of migraine variants.
periodic movement disorder of early childhood without In addition to never identifying (clinically, electro-
long-term sequaelae: physiologically and neuroradiologically) pathology in
“The condition occurs in infants and consists of re- PT, the pathophysiology remains undetermined. The
current attacks, during which the baby keeps the head principal clinical feature of spontaneous onset of torti-
tilted to one side . . . and often rotated slightly toward collis would suggest that this syndrome appears to be
the opposite side. . . . In other cases, the onset of the consequence of focal, cervical dystonia, which is
head-tilting is accompanied by vomiting, pallor, and idiopathic in nature; i.e. without a symptomatic struc-
great agitation . . . Eventually the head spontaneously tural lesion. Kimura and Nezu [7] demonstrated in a
returns . . . without apparent reason, the whole process child with typical PT, with the aid of ictal surface elec-
repeats itself. . . . After months or years, the attacks tromyography, prominent ipsilateral sternocleidomas-
cease and the child appears to be well.” [1]. toid activity and milder contralateral trapezius muscle
Because of the features of this clinical syndrome contraction, corroborating the hypothesis of focal cer-
and its close association with other periodic syndromes vical dystonia.
associated with migraine [2–6], it is considered to be a The signs and symptoms in PT may include more
migraine variant. generalized motor difficulties (pelvic tilt and ataxia)
and associated malaise, irritability and vomiting, sug-
gesting the syndrome is medicated within the cerebel-
2. Etiology lar and vestibular pathways. Furthermore, ictal elec-
troencephalography, audiometry and bed side tests of
While PT has been well characterized with numer- vestibular function are generally normal indicating that
ous literature reports, the epidemiology remains largely PT may indeed be secondary to dysfunction at a sub-
cortical level [2,7]. LeDoux and Brady [8] demonstrat-
ed that while the pathophysiologies of cervical dys-
∗ Correspondence: Dr. Sheikh Nigel Basheer, Pediatric Neurology,
tonia are heterogeneous, in their case series of sec-
Women and Children’s Directorate, Barts and The London NHS
ondary symptomatic adult cohort, lesions appeared to
Trust, 1st Floor David Hughes Building, The Royal London Hospital,
Whitechapel, London E1 1BB, UK. Tel.: +44 2073 777468; Fax: +44 be concentrated topographically afferent to the cerebel-
2073 777372; E-mail: Nigel.Basheer@bartsandthelondon.nhs.uk. lum producing similar clinical phenotype to idiopathic

1304-2580/10/$27.50  2010 – IOS Press and the authors. All rights reserved
70 S.N. Basheer / Paroxysmal torticollis

Table 1
Clinical features of benign paroxysmal torticollis
Parameters Frequency (%) Total cases (reference)
Female 55 75 (2-5,7)
Onset between 2-12 months 56 64 (2,4,5,7)
Autonomic symptoms 63 65 (2,4,7)
Duration of attack
< 24 hours 33
1-days 44 52 (2,4,7)
> 1 week 23
Attacks monthly or less 89 46 (2,4,7)
Age < 3 years at last attack 84 56 (2,4)
Later migraine/migraine variant 34 47 (2–5)
Family history of paroxysmal torticollis 6 48 (2,4,5)
Family history of migraine 52 61 (2-5)

cases. While clearly there are considerable differences vomiting) are also quite prominent. Interictally these
between PT and secondary dystonias, it seems likely children are normal. As has been mentioned earlier,
that olivocerebellar dysfunction may play a role in its PT can be observed within families, however, reports
pathophysiology. of migraine or other migraine variants are more often
It is also clear that there is an important genetic in- encountered.
fluence in PT. The relationship between the occurrence The typical age at onset of attacks is within the first
of PT in index cases and familial reports of PT, mi- year of life, although cases have been observed to com-
graine, migraine variants (including paroxysmal verti- mence in the neonatal period and after 12 months of
go and hemiplegic migraine) and other periodic syn- age [2,5,7]. The duration of symptoms can be quite
dromes (paroxysmal tonic upward gaze and episodic variable; ranging from only minutes to weeks, however
ataxia) have been documented [2–6]. The pathogen- the median time is between one to seven days [2,4,7].
esis of PT, being both paroxysmal and periodic, like Similarly, attack frequency can vary from weekly to
other similar childhood syndromes, may be the conse- several times a year; the median being monthly. Re-
quence of ion channel dysfunction. There are now a mission is usually observed by three years, although
number of reports documenting such findings in some there are reports of occurrences of PT up to five years
children with PT [4–6]; i.e. mutations in the calcium of age [2,4].
channel gene (CACNA1A) as has been seen in some
with familial hemiplegic migraine, paroxysmal verti-
go [4], episodic ataxia and paroxysmal tonic upward 4. Prognosis
gaze [6].
Despite even frequent and prolonged episodes of PT,
neurodevelopment remains appropriate and unaffected.
3. Clinical features Remission is the rule although a substantial number
may develop future periodic syndromes (migraine and
Table 1 summarizes the predominant features of PT. its variants) [2–5]. Although there are no long-term
There is a slight gender differentiation with female pre- prospective studies evaluating neurological function in
ponderance. While usually abrupt in onset, Drigo et terms of motor, cognitive and adaptive behavioral out-
al. [2] reported in their case series of 22 children a pro- comes, clinical observations suggest that there is no
drome of malaise, irritability or mild afebrile symptoms significant disability acquired.
in a third. More than half of cases reported occurred There are no specific treatments either to abort or
on waking [2,7], and as is observed in other dystonic prevent attacks. Management is best directed at support
syndromes, tends to remit in sleep. Head tilt may be care, education and reassurance as well as comforting
right or left (latero-, retro- and torticollis) frequently the child when symptomatic. Atypical presentations
varying from attack to attack in more than 70% [2,4, should warrant consideration for alternate diagnoses
7], and may be associated with more generalized motor and should be managed accordingly [1,8].
problems (ipsilateral truncal or pelvic tilt or ataxia) in There are a number of directions for future research
40% [2,4,7]; however no disorder of ocular motion is in PT; population based studies examining epidemiol-
observed. Autonomic symptoms (pallor, sweating and ogy, natural history, relationship with other migraine
S.N. Basheer / Paroxysmal torticollis 71

variants and long-term prognosis, and further genetic [3] W.A. Al-Twaijri and M.I. Shevell, Pediatric migraine equiva-
study of familial cases. In the light of data on the re- lents: occurrence and clinical features in practice, Pediatr Neu-
rol 26 (2002), 365–368.
lationship with ion channels and PT, novel therapeu- [4] N.J. Giffin, S. Benton and P.J. Goadsby, Benign paroxysmal
tic strategies may be developed to treat severe cases torticollis of infancy: four new cases and linkage to CACNA1A
characterized by prolonged and frequently recurring at- mutation, Dev Med Child Neurol, 44 (2002), 490–493.
tacks. However, for the majority of infants and young [5] E. Cuenca-León, R. Corominas, N. Fernàndez-Castillo et al.,
Genetic analysis of 27 Spanish patients with hemiplegic mi-
children, PT remains a benign periodic movement dis- graine, basilar-type migraine and childhood periodic syn-
order which is self-limiting and without any serious dromes, Cephalalgia 28 (2008), 1039–1047.
consequence. [6] A. Roubertie, B. Echenne, J. Leydet et al., Benign paroxysmal
tonic upgaze, benign paroxysmal torticollis, episodic ataxia and
CACNA1A mutation in a family, J Neurol 255 (2008), 1600–
1602.
References [7] S. Kimura and A. Nezu, Electromyographic study in an infant
with benign paroxysmal torticollis, Pediatr Neurol 19 (1998),
[1] C.H. Snyder, Paroxysmal torticollis in infancy. A possible form 236–238.
of labyrinthitis, Am J Dis Child 117 (1969), 458–460. [8] M.S. LeDoux and K.A. Brady, Secondary cervical dystonia
[2] P. Drigo, G. Carli and A.M. Laverda, Benign paroxysmal torti- associated with structural lesions of the central nervous system,
collis of infancy, Brain Dev 22 (2000), 169–172. Mov Disord 18 (2003), 60–69.