CLINICAL OVERVIEW

Transient idiopathic dystonia in infancyRita Calado1, José Paulo Monteiro (neuroped@hgo.min-saude.pt)2, Maria José Fonseca3

1.Hospital do Espırito Santo, Evora – EPE2.Hospital Garcia de Orta, Almada, Portugal3.Hospital Garcia de Orta, Almada, Portugal

KeywordsChild development, Dystonia in infants, Hemiplegiccerebral palsy, Movement disorders, Transientidiopathic dystonia of childhood

CorrespondenceDr Jose Paulo Monteiro, Centro de Desenvolvimentoda Crianca Torrado da Silva, Hospital Garcia de Orta,Av. Torrado da Silva, Pragal, 2801 951 Almada,Portugal.Tel: +00351212940294 |Fax: +00351212736637 |Email: neuroped@hgo.min-saude.pt

Received28 October 2010; revised 11 November 2010;accepted 26 November 2010.

DOI:10.1111/j.1651-2227.2010.02109.x

Place of performance of work: Centro de Desen-volvimento da Crianca Torrado da Silva – Servico dePediatria, Hospital Garcia de Orta.

ABSTRACTAim: Review of transient idiopathic dystonia cases to improve knowledge on this

entity, in relation to frequency, characterization and evolution.Methods: Retrospective review and characterization of clinical cases seen in

paediatric neurology consultation, diagnosed with transient idiopathic dystonia, between

February 2001 and June 2009, using clinical files complemented with photographic

records and updated information through the physician.Results: Thirteen infants were referred to the paediatric neurology consultation over

a period of 8 years, for asymmetric tone, posture and movements of the upper limb with

onset before 6 months, with spontaneous favourable evolution and disappearance

without sequelae, although the reason for referral was, in most cases, the suspicion of a

hemiplegic cerebral palsy.

Conclusion: Transient changes of tone, posture and movement can be observed during thefirst months of life. Differential diagnosis is extensive and complex, based on a careful history andneurological examination. Distinction between neurological, neuromuscular and orthopaedicpathology is difficult, particularly at the onset of clinical manifestations. The cases presented aresimilar to those previously reported by Willemse and Deonna, classified as transient idiopathicdystonia of childhood. Pathophysiology is unknown; some findings support a genetic susceptibilityto functional imbalance in brain neurotransmitters and synaptogenesis.

INTRODUCTIONTransient idiopathic dystonia in infancy (TIDI) was firstdescribed in 1986 by Willemse, who first reported the pres-ence of segmental dystonia, self-limiting and not associatedwith the appearance of sequelae in four infants agedbetween 5 months and 1 year. He called it ‘benign idio-pathic dystonia’.

This is a nonprogressive benign condition of unknownaetiology. Some familial cases have already been reported,suggesting the existence of a genetic basis.

The scarcity of references (1–3), with a small number ofpublished cases, calls for the need to review the cases ofTIDI as a way to improve knowledge, with regard to itsprevalence, characterization, evolution and need for inter-vention therapy.

PATIENTS AND METHODSRetrospective review and characterization of clinical casesseen in the Pediatric Neurology Consultation in the ChildDevelopment Center – Torrado da Silva (CDC) – Depart-ment of Pediatrics, Hospital Garcia de Orta, diagnosed withTIDI, between February 2001 and June 2009 (8 years),using the clinical files complemented with photographicrecords, video and updated information through the physi-cian.

RESULTSIn the period of study, there were thirteen children diag-nosed with TIDI, three males and ten females, aged between4 and 9 months, when first observed in neuropaediatricconsultation. The largest number of cases (31%) occurred in2005.

This is a population of healthy infants with no relevantpersonal history, with regard to perinatal history and neona-tal period with appropriate psychomotor development(Table 1).

Regarding family background is to emphasize the exis-tence of one child (case 7) whose father was presented witha picture of transient dystonia in childhood (which persistedup to 6 months of age); another one with a sibling with thediagnosis of epilepsy, psychomotor developmental delay,and congenital hemiparesis (case 5) and the last with a half-sister suffering from septo-optic dysplasia (Morsier Syn-drome) (case 2).

When first observed in referral to paediatric neurology,five of these children had already been evaluated in otherconsultations (physiotherapy, orthopaedics, paediatric sur-gery), for the same reason. Fifty-five per cent of all childrenhad been referred by paediatricians, 15% for general practi-tioner, 15% a physiatrist and the remaining 15% by otherspecialists. The main reason for referral were upper limbasymmetry movements (seven cases), followed by upper

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limb paresis (three cases), abnormal position of the upperlimb (two cases) and change of both tone and posture of theupper limb (one case). One child had already performedradiographs of the shoulder (no change) and another spinalMRI, for presenting simultaneously coccygeal pit, also nor-mal. First diagnosis admitted were congenital hemiparesis(11 cases), brachial plexus injury (one case) and TIDI (onecase). Two children had already begun physiotherapy. Theappearance of the dystonic complaints prior to the firstobservation of neurology at 1–4 months (mean2.2 months). The complaints began before 6 months, withprevalence up to 3 months (Table 1). As for the character-ization of dystonia, five infants had upper limb posturalasymmetry, four motor asymmetry of the upper limb andthe other two both. Posture and movement changes mostoften noted were the abduction and pronation of the fore-arm with palmar flexion of the wrist ipsilateral and limitedmovements of one hand (remaining more closed, but with-out manual preference in most cases). The symptoms were

intermittent in nature, with variable duration (mostly sec-onds to minutes) occurring several times a day. The abnor-mal posture disappeared during voluntary manipulation(Figs 1 and 2) and during sleep in all children except one(case 1).

In all children, the affected limb was the upper limb,predominantly the left (eight cases) compared to theright (five cases). Two children (cases 2 and 12) also hadinvolvement of the homolateral lower limb only noticedlater, characterized by flexion of the toes that came todisappear at around 9 months old and around 13 monthsfor another child.

A fine intermittent tremor of extremities, head and trunkwas noted in three cases (1, 9 and 10) and convergent stra-bismus in another case (2), which also disappeared later.

Neurological examination and development evaluationproved to be normal in most children with respect to musclestrength, tone, deep tendon reflexes, spontaneous move-ments, except for a slight increase in tone in the affected

Table 1 Characteristics of study population

N GenderRelevant family ⁄ personalhistory

Start ⁄ End ofdystonia†

Affectedlimb

Firstneuropaediatricconsultation†

Neurologicalexamination

Naturecomplaints PMD

Followup(months)

1 F GA: 36 weeks,

oligoamnios

5 ⁄ 10 LUL 7 Forearm extension and

int. rotation fine

tremor

Inter. N 12

2 F Half-sister with

septo-optic

dysplasia

2 ⁄ 6 RUL +

RLL

4 fl mobility, fist

extension and int.

rotation, toes

flexion, convergent

strabismus

Inter. N 17

3 F No 2 ⁄ 6 RUL 4 fl mobility,

arm elevation and

adduction

Inter. N 20

4 F Dystocia foetal distress 3.5 ⁄ 6 LUL 6 Arm extension and int.

rotation

fist abduction

Inter. N 24

5 F Brother with congenital

hemiparesis and

epilepsy

6 ⁄ 9 RUL 7 fl mobility, closed hand

forearm extension

and int. rotation

Inter. N 30

6 F No 4 ⁄ 9 RUL 9 fl mobility

motor asymmetry

Inter. N 32

7 F Father with dystonic during

1st year life

3 ⁄ 12 LUL 5 fl mobility, closed hand

thumb adduction fist

extension and int.

rotation

Inter. N 46

8 F Mother with 3 previous

miscarriages

4.5 ⁄ 10 LUL 6 fl mobility

forearm int. rotation

Inter. N 60

9 M GA: 36 weeks 2 ⁄ 12 LUL 6 Fine tremor Inter. N 63

10 M No 3 ⁄ 6 RUL 4 Fine tremor Inter. N 74

11 F No 1 ⁄ 14 LUL 4 fl hand mobility

forearm pronation

and wrist flexion

Inter. N 106

12 M No 5 ⁄ 16 LUL + LLL 6 fl hand mobility toes

flexion

Inter. N 120

13 F No 3 ⁄ 6 LUL 5 Asymmetric posture Inter. N 58

†Age in months. GA = gestational age; RUL = right upper limb; LUL = left upper limb; RLL = right lower limb; LLL = left lower limb; Int. = internal; Inter. = intermit-

tent; PMD = psychomotor development; N = normal.

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limb, but without functional limitation, in two children(cases 2 and 7), and a slight asymmetry of spontaneousmovements in two children. (cases 2 and 5).

After the first neuropaediatrics evaluation, TIDI was con-sidered the most likely diagnosis in all children except one(case 2) in whom – because of the presence of atypical clini-cal signs (involvement of the face and lower limb) and tak-ing into account the existence of an older sister with CentralNervous System malformative pathology (septo-optic dys-plasia) – MRI imaging was performed which showed nochanges. The symptoms disappeared gradually and sponta-neously in a period ranging between 3 and 13 months afterits onset, leaving no sequelae in either case. There wasno delay in independent walking nor unusual prewalkinglocomotions. Currently, all children are well and with anappropriate psychomotor development.

DISCUSSIONTransient idiopathic dystonia in infancy is rarely mentionedin literature, probably because it is a benign, infrequent(1–4) and transitory situation. It consists in a change of

tone, posture or movement, which appears early in develop-ment, usually up to 1 year age, most often in the first6 months of life, affecting mostly one upper limb, occasion-ally both and rarely the lower limbs, trunk or cervical region(1–3).

Most commonly found sign is forearm hyperpronationwith palmar flexion of the wrist. Dystonic posture is usuallyintermittent and triggered by movements, positions or spe-cific situations such as prone, crawl, bathing, among othersthat may arise at rest, and persists seconds to hours. It usu-ally disappears during voluntary movements, which canhelp guide the diagnosis. The association of fine tremor withdystonia (e.g. slight tremor of the head, trunk and ⁄ or upperlimbs) (1,2) was already described.

These children do not have significant changes at theneurological examination neither psychomotor develop-mental delay, with dystonia being the only change whichcan be found in physical examination. The majority doesnot show hand preference.

The history and age of presentation were usually typical –the disappearance of dystonia with the change of positionand during voluntary movements in the absence of func-tional limitation and a normal neurological examinationand development – allow the differential diagnosis, some-times difficult, with other entities especially with congenitalhemiparesis (a form of cerebral palsy) (3). In the latter situa-tion, a child has a nonprogressive lesion that is present sincepre- or perinatal period, but is often ignored until a delayeddevelopment of motor skills, involving affected limbs,becomes evident. One finding that helps establishing thisdiagnosis is a too early (and so pathological) of handdominance.

However, in difficult cases, such situations should be cov-ered and properly excluded because the therapeuticapproach is based on proper diagnosis, facilitated by carefulobservation and video or photo records when available. It isimperative to remain vigilant, knowing that ‘time’ is relevantfor diagnosis (1–4).

Therapeutic intervention consists only in global stimula-tion. Physiotherapy may have a beneficial role, but not yetproven.

Five children with other transient dystonic manifestations(torticollis, retraction of the shoulders, toe-walking), whosefollow-up reveals a progressive disappearance of dystonia,are also described in the literature.

This group of children presents with what some authorscall ‘development dystonia’. The aetiology of this is stillunknown, assuming that there is a genetic susceptibility tofunctional changes including a localized and transientimbalance of neurotransmitters in a period of rapid matura-tion of CNS (1,2,5,6).

In literature, there is reference to transient changes of hy-pometabolism in the basal ganglia (caudate head and thala-mus bilaterally), temporo-mesial cortex contralateral to thedystonia and cerebellum disclosed in a 5 months child withtransient idiopathic dystonia who performed single photonemission computed tomography and positron emissiontomography during the active phase of dystonia (7).

Figure 1 Dystonic posture of the left upper limb in a 7-month infant (The

authors inform obtaining child’s parents’ consent to publish the above photo-

graph).

Figure 2 Disappearance of dystonic posture with voluntary prehension.

Transient idiopathic dystonia in infancy Calado et al.

626 ª2011 The Author(s)/Acta Pædiatrica ª2011 Foundation Acta Pædiatrica 2011 100, pp. 624–627

In conclusion, it is essential to know the existence of thisentity to avoid performing expensive complementary inves-tigations and repetitive consultations by different medicalspecialities as well as the performance of unnecessary diag-nostic procedures that will only contribute to increase theanxiety of the child and his family.

ACKNOWLEDGEMENTSThe authors thank Prof. Thierry Deonna, occupational ther-apist Graca Santos and parents.

References

1. Willemse J. Benign idiopathic dystonia with onset in the firstyear of life. Dev Med Child Neurol 1986; 28: 355–63.

2. Deonna TW, Ziegler AL, Nielsen J. Transient idiopathic dystoniain infancy. Neuropediatrics 1991; 22: 220–4.

3. Fernandez-Alvarez E., Aicardi London J, Mac Keith Press.Movement disorders in children (International Review of ChildNeurology Series) distributed by Cambridge University Press.2001, 90–3.

4. Crouchman M. Environmentally induced transient motor signsin infancy. Dev Med Child Neurol 1987; 29: 680–8.

5. Newman CJ, Ziegler AL, Jeannet PY, ROulet-Perez E, DeonnaTW. Transient dystonic toe-walking: differentiation from cere-bral palsy and a rare explanation for some unexplained cases ofidiopathic toe-walking. Dev Med Child Neurol 2006; 48: 96–102.

6. Alvarez EF. Transient movement disorders in children. J Neurol1998; 245: 1–5.

7. John B, Klemm E, Haverkamp F. Evidence for altered basalganglia and cortical functions in transient idiopathic dystonia.J Child Neurol 2000; 12: 820–2.

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