Professional Documents
Culture Documents
DOI 10.3233/JPN-2010-0365
IOS Press
Paroxysmal torticollis
Sheikh Nigel Basheer ∗
Department of Pediatric Neurology, The Royal London Hospital, Whitechapel, London, UK
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.