Torticollis In Infants Research Articles

Bilateral congenital muscular torticollis in infants, report of two cases

Background Congenital muscular torticollis (CMT) is a well-known diagnosis among physiotherapists specializing in pediatric care, especially when working with infants. However, knowledge of bilateral torticollis is limited. The purpose of this article was to describe how bilateral torticollis may present itself clinically. Case One infant with CMT with sternocleidomastoid tumor (SMT) on the right side, and some limitation in rotation towards the right side and in lateral flexion towards the left side, i.e, the muscle on the right side was shortened. While sitting with support, he tilted the head to the left and was stronger in the lateral flexors on the left side which fit well with a postural left-sided torticollis (PT). The other infant had bilateral muscular torticollis (MT), the sternocleidomastoid muscle thickened bilaterally, and both active and passive rotations were affected. The head was held in flexion, and active rotation was severely limited to both sides. For both cases the therapeutic interventions were to gain a normal range of motion (ROM) and a good posture of the head. Conclusions CMT can appear in different ways and may be bilateral. Both infants gained good ROM and better head position, however case I still needs some training. To gain more knowledge about bilateral CMT, we should follow these cases over a longer period of time. It is important to communicate and discuss our experiences with each other to understand rare cases of CMT.

Bilateral congenital muscular torticollis in infants, report of two cases

Background Congenital muscular torticollis (CMT) is a well-known diagnosis among physiotherapists specializing in pediatric care, especially when working with infants. However, knowledge of bilateral torticollis is limited. The purpose of this article was to describe how bilateral torticollis can appear in infants. Case One infant with CMT with sternocleidomastoid tumor (SMT) on the right side, and some limitation in rotation towards the right side and in lateral flexion towards the left side, that is, the muscle on the right side was shortened. While sitting with support, he tilted the head to the left and was stronger in the lateral flexors on the left side which fit well with a postural left-sided torticollis (PT). The other infant had bilateral muscular torticollis (MT), the sternocleidomastoid muscle thickened bilaterally, and both active and passive rotations were affected. The head was held in flexion, and active rotation was severely limited to both sides. For both cases the therapeutic interventions were to gain a normal range of motion (ROM) and a good posture of the head. Conclusions CMT can appear in different ways and may be bilateral. Both infants gained good ROM and better head position, however case I still needs some training. To gain more knowledge about bilateral CMT, we should follow these cases over a longer period of time. It is important to communicate and discuss our experiences with each other to understand rare cases of CMT.

Study of the peculiarities of the osteopathic status in patients with planovalgus deformity of the feet in combination with a history of placement torticollis and without such a combination

Introduction. The relevance of the feet planovalgus deformity problem is caused by its prevalence and tendency to progression, insufficient knowledge of a number of aspects, and the complexity of treatment. Another urgent pediatric orthopedics problem is the placement torticollis in infants, and the possible relationship of this problem with feet planovalgus deformity. Among the least studied aspects of these diseases categories it is necessary to highlight the problem of the peculiarities of the osteopathic status in children with feet planovalgus deformity with a history of placement torticollis, and the dynamics of clinical manifestations during their osteopathic correction.The aim of the research was to study the features of the osteopathic status in patients with planovalgus deformity of the feet in combination with a history of placement torticollis and without such a combination, and to evaluate the clinical efficacy of complex therapy, including osteopathic correction.Materials and methods. The study involved 60 patients aged 7–14 years with planovalgus deformity of the feet. The study participants were divided into two groups. The first group included 30 patients with planovalgus deformity of the feet and a history of placement torticollis. The second group included 30 patients with planovalgus deformity of the feet, who did not have a history of torticollis. All study participants received complex therapy (orthopedic treatment and osteopathic correction). At the beginning and at the end of the course of osteopathic correction, the condition of the arch of the foot (the severity of fl at feet) and osteopathic status were assessed in all study participants.Results. In the first group there were prevailed somatic dysfunctions (SD) of the head region, the detection rate was 86%, the pelvic region (somatic component — C), 76 %, and the neck region (C), 13 %. Among the second group participants there were prevailed SD of the pelvic region (C) — the detection rate was 100 %, the lower extremities, 43 %, and the lumbar region (C), 13 %. The SD in the pelvic region was the most typical; however, more often (p<0,05) this dysfunction was detected in the second group. The number of regional SD in general was statistically significant (p<0,05) more in the first group. The participants in both groups were most characterized by local SD of the vertebrae (76 and 100 %) and fibula (20 and 56 %). There was a statistically significant (p<0,05) difference between patients in terms of the detection frequency of these musculoskeletal system dysfunctions. Among the local SD of the craniosacral system and organs of the head, intraosseous SD (90 and 17 %) and SD of the dura mater (40 and 23 %) prevailed. SD of the temporomandibular joint was detected only in the first group (23 %). There was a statistically significant (p<0,05) difference between the groups in terms of the detection rates of temporomandibular joint dysfunctions and intraosseous dysfunctions. According to the results of treatment, the incidence of SD in the head region and the pelvic region decreased significantly (p<0,05) in patients from the first group, and in the SD of the pelvic region and the region of the lower extremities — in patients from the second group. The severity of flat feet of the study participants was not statistically significantly different before treatment. At the end of the complex treatment, the patients of the both categories showed a statistically significant (p<0,05) improvement in the state of the foot arch.Conclusion. The revealed differences between the participants of the groups in the prevalence and number of regional dysfunctions and the prevalence of local SD could, presumably, reflect the relationship between the placement torticollis and planovalgus deformity of the feet. Based on the absence of differences in the degree of severity of flat feet between the participants of the groups, it can be assumed that the history of the placement torticollis is not associated by itself with the aggravation of the severity of feet planovalgus deformity.

Chiropractic Treatment of Arthrogenic Torticollis in Infants; a Retrospective Study on Outcome in 1000 Infants

Chiropractic Treatment of Arthrogenic Torticollis in Infants; a Retrospective Study on Outcome in 1000 Infants

Torticollis in infants with neonatal abstinence syndrome.

To report the incidence of torticollis diagnosed in infants treated for neonatal abstinence syndrome (NAS) and compare neonates with and without torticollis. This prospective cohort study reports on infants examined at 1-4 months of age. Numerous obstetrical/newborn factors and other drugs used during gestation were compared. Of 501 neonates treated for NAS, 421 (84%) were seen for follow-up. Of these, 105 (24.9%) were diagnosed with torticollis. The only significant obstetrical/newborn factor identified was a lower rate if the parents were the primary caregiver after hospital discharge. Of the 105 cases, 88 (84%) were right-sided and 17 (16%) were left-sided. These data demonstrate that torticollis is a common diagnosis in infants examined at 1-4 months of age after being treated for NAS with a predilection for this to be right-sided. The etiology for this is uncertain, but newborns treated for NAS need close follow-up post discharge.

Imaging of congenital torticollis in infants: a retrospective study of an institutional protocol.

OBJECTIVE The authors' objectives in this study were to evaluate their institutional protocol and create recommendations for radiographic imaging in infants with torticollis, with or without plagiocephaly, based on a retrospective clinical analysis and literature review. METHODS A retrospective analysis was conducted to identify infants with torticollis who were evaluated by the craniofacial team. The following patients were identified: those who underwent imaging in the form of radiography, CT scanning, or MRI; those who had a secondary diagnosis or additional clinical finding as the indication for imaging; and those with persistent torticollis despite completion of recommended repositioning techniques and physical therapy (PT). RESULTS A total of 683 infants between the ages of 1 day and 335 days (mean age 141.6 days) were referred for management of torticollis. Initial imaging was performed in 48 patients, of whom 44 were identified as having a diagnosis other than torticollis or a significant clinical finding as the indication for imaging. The remaining 4 patients (0.6% of the torticollis population) underwent imaging and did not have an additional diagnosis or a significant clinical finding. There were no abnormal radiological findings in these patients. Of the 639 patients diagnosed with congenital torticollis who did not have a secondary diagnosis that required initial imaging, 99.2% (634 patients) achieved resolution of torticollis with recommended repositioning techniques and completion of PT and without radiography, CT, or MRI. CONCLUSIONS Within the limits of this retrospective study and supporting literature, the authors provide the following recommendations regarding radiographic imaging of infants with congenital torticollis. 1) Clinical examination is sufficient in the diagnosis of congenital torticollis in infants. Radiography, CT scanning, and MRI are not necessary. 2) In cases in which additional clinical or neurological findings are present, imaging may be recommended. 3) PT and repositioning techniques are the recommended treatment modalities for congenital torticollis. 4) Additional evaluations should be performed throughout the duration of PT to assess progress and response to therapy. 5) Imaging should be performed to rule out nonmuscular pathologies if torticollis persists after 1 year of treatment.

Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia.

Dear Sir, A 12-year-old boy presented with paroxysmal events for the last 3 months. He had no adverse perinatal events and was developmentally normal. He experienced brief episodes of abnormal posturing of upper and lower limbs, usually on the right side. These episodes were triggered by sudden movements like sudden rise from sitting or lying position and sometimes by startle. There was absent premonitory sensation, preserved consciousness during the events, and no “postictal” drowsiness. The frequency was variable from 3 to 5 episodes/day to once in 2–3 days. There were no other body movements, myoclonus, dance-like movements, neuroregression, and hearing or vision impairment. There was no history of headaches or seizures in infancy. The family history was unremarkable for any seizures, movement disorder, or migraine. Examination was normal. Magnetic resonance imaging of his brain and his “interictal” electroencephalogram (EEG) were normal. He had poor response to oral valproate, started by a local practitioner. A possibility of paroxysmal kinesigenic dyskinesia (PKD) was considered in view of sudden movement/startle-induced paroxysmal dyskinesia. He had complete resolution of symptoms on oxcarbazepine. By direct sequencing of the entire coding region and exon-intron boundaries of the proline-rich transmembrane protein 2 (PRRT2) gene, the heterozygous mutation, c. 649dupC p. Arg217Profs*8 mutation, was identified in the patient. This mutation has been previously reported in patients with PKD from several parts of the world. PKD or DYT10, a rare movement disorder, may be sporadic or familial (autosomal dominant with incomplete penetrance). PRRT2 is the major gene responsible for PKD. The encoded protein, PRRT2, has presynaptic localization and appears to be involved in exocytosis and neurotransmitter release. The classical PKD phenotype is characterized by onset in childhood or adolescence; frequent brief attacks of dystonia, choreoathetosis, and/or ballismus with preserved consciousness; precipitation by sudden voluntary movements or startle; frequent aura; normal interictal neurological examination; and excellent response to anticonvulsants. The most effective drugs in PKD are voltage-gated sodium channel blockers (carbamazepine, oxcarbazepine, phenytoin, lacosamide). The common misdiagnosis is epilepsy, but preserved consciousness during the attacks, absence of postictal state, and absence of “ictal” EEG abnormalities favor PKD. The spectrum of PRRT2-associated diseases also includes benign familial infantile seizures, infantile convulsions with choreoathetosis, episodic ataxia, hemiplegic migraine, and benign paroxysmal torticollis of infancy.

Assessment and management of torticollis in infancy: A survey of current physiotherapy practice

Assessment and management of torticollis in infancy: A survey of current physiotherapy practice

Applied research of ultrasound real-time elastography in early diagnosis of congenital muscular torticollis in infants

Objective To discuss the applied value of ultrasound real-time elastography (RTE) in early diagnosis of congenital muscular torticollis (CMT) in infants. Methods Three hundred and thirty-six infants with CMT under 3-year-old were received the conventional ultrasound and RTE examination on their diseased sternocleidomastoid (SCM). And then a retrospective analysis was carried out by comparing the examination result with clinical observation and surgical pathology. Results The ultrasound performance of these 336 infants were divided into mass type (251 cases, 75%), and diffuse type (85 cases, 25%). RTE score for healthy side was grade Ⅰ; RTE scores for unhealthy side was grade Ⅱ in 97 cases, grade Ⅲ in 186 cases, and grade Ⅳ in 53 cases, respectively. Strain ration (SR) for mass type was 0.76-4.42, and for diffuse type was 1.49-7.07. By regarding pathological result as the standard, ROC curve was constructed to determine the best operation opportunity guided by ultrasound, SR 3.35 was a critical point of operative and nonoperative treatment (sensitivity 87.7%, specificity 98.2%, accuracy 96.1%). By using RTE dynamic observation, 272 cases (81%) with low RTE scoring of CMT got the effect by non-operative treatment and 64 cases (19%) with high RTE scoring of CMT were cured by operative treatment. Conclusions RTE can provide more objective semi-quantitative data about stiffness for SCM disease and it′s helpful for making resonable clinical treatment plans and dynamically observing its efficacy. Key words: Elasticity imaging techniques; Infant; Torticollis

Potential risk factors related to the diagnosis of muscular torticollis in infants less than 24 months of age

Potential risk factors related to the diagnosis of muscular torticollis in infants less than 24 months of age

P145 – 2410: Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A

Objective Paroxysmal tonic upward gaze was initially described as a benign phenomenon with negative investigations and eventual complete resolution of symptoms. Later publications demonstrated that a similar clinical picture may arise from structural brain lesions, channelopathies, neurotransmitter disorders, and epileptic seizures. CACNA1A related disorders manifest as a wide spectrum of paroxysmal neurological disorders: episodic ataxia 2, hemiplegic migraine, benign paroxysmal torticollis of infancy, and paroxysmal vertigo. Paroxysmal tonic upward gaze as a phenomenon in patients with mutations in the CACNA1A gene has only been reported once. Methods We describe three patients with multiple episodes of paroxysmal tonic upward gaze that appeared during the first months of life. In addition the patients demonstrated motor and language delay and cerebellar ataxia. A sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the other patients were performed. Results Sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the two other patients revealed 3 different de-novo mutations in the CACNA1A gene. Conclusion CACNA1A mutations should be evaluated in infants and young children with paroxysmal tonic upgaze especially if associated with developmental delay, cerebellar signs, and other types of paroxysmal events.

Sternocleidomastoid ultrasonography data for muscular torticollis in infants

This study was performed to obtain normative ultrasonographic data of the sternocleidomastoid (SCM) muscle in infants and to describe an ultrasound method for evaluating muscular torticollis. The thickness and cross-sectional area (CSA) of the sternal and clavicular heads of the SCM in 84 subjects were analyzed retrospectively. The diagnostic performance of ultrasonography (US) was estimated using receiver-operating characteristic analysis. Muscle thickness increased with age until 10 months. There were no significant differences in thickness or CSA between the right and left sides (P > 0.05) in normal subjects. A ratio of the thickness of the affected side to the unaffected side for the sternal head of the SCM muscle of >1.19 showed a diagnostic sensitivity of 97.9% and specificity of 96.4%. Distinguishing the heads of the SCM muscle and comparing the thickness of the same head on both sides using US may be helpful for evaluating torticollis in infants.

A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy

Benign paroxysmal torticollis of infancy (BPTI) is a rare paroxysmal disorder characterized by recurrent episodes of head tilt and accompanying general symptoms which remit spontaneously. The rare association with gain-of-function CACNA1A mutations, similar to hemiplegic migraine, has been reported. We report here two new BPTI patients from the same family carrying a heterozygous mutation in the CACNA1A gene leading to the change p.Glu533Lys. Functional analysis revealed that this mutation induces a loss of channel function due to impaired gating by voltage and much lower current density. Our data suggest that BPTI, a periodic syndrome commonly considered a migraine precursor, con- stitutes an age-specific manifestation of defective neuronal calcium channel activity.

Imaging of Torticollis in Children

The normal anatomy of the cervical spine and various imaging techniques for the evaluation of torticollis are reviewed, and possible causes of torticollis in infants and children are discussed, with an emphasis on relevant imaging findings. Torticollis is a congenital or acquired deformity characterized by rotational deformity of the cervical spine with secondary tilting of the head. Although torticollis is a sign of an underlying disease process, its presence does not imply a specific diagnosis, and the cause should be sought if torticollis persists or is associated with other symptoms. Congenital torticollis, seen in neonates and infants, usually results from craniocervical vertebral anomalies or muscular causes, although ocular abnormalities such as congenital paralytic squint (strabismus) and congenital nystagmus should also be considered. Acquired torticollis, seen in older children and adolescents, is often secondary to trauma, infection, or tumors. Imaging should be used as a general screening tool only after a complete medical history and clinical findings have been obtained. In newborns or infants with congenital torticollis, ultrasonography (US) is the modality of choice. In cases of acquired torticollis resulting from trauma, conventional radiography (lateral and anteroposterior views) should be the first-line imaging modality. In nontraumatic acquired torticollis, computed tomography (CT) of the neck or cervical spine is the initial imaging study. If CT findings are negative, magnetic resonance (MR) imaging of the brain and cervical spine should be performed. The use of multiple imaging modalities (conventional radiography, US, CT, and MR imaging) is common in the radiologic work-up of torticollis, and radiologists must understand the role of each imaging modality in patients of various ages.

선천성 근성 사경 환아의 흉쇄유돌근 초음파 소견과 사경종합평가 사이의 상관관계

본 연구의 목적은 사경의 진단 및 평가에 많이 사용되고 있는 초음파 검사와 이학적 검사 도구인 사경종합평가의 상관성 검증을 통해 사경종합평가의 유용성을 알아보는 것이다. 선천성 근성 사경으로 진단 받은 환아 78명을 연구 대상으로 하였다. 사경 환아를 초음파 소견을 통한 흉쇄유돌근(목빗근) 섬유화 정도에 따라 네 유형으로 분류하였고, 사경종합평가를 통한 장애 정도에 따라 세 가지 유형으로 분류하였다. 초음파 영상 소견을 통해 분류된 환아 중 제1유형이 42명(53.8%); 제2유형이 21명(26.9%); 제3유형이 7명(9.0%); 제4유형이 8명(10.3%)이었다. 발현 연령은 초음파 제1유형에서 2.3<TEX>${\pm}$</TEX>0.8개월로 다른 유형에 비해 유의하게 빨랐으며(p<0.01), 제4유형에서 20.2<TEX>${\pm}$</TEX>12.1개월로 가장 늦었다(p<0.01). 유형별로 분류된 초음파 검사와 사경종합평가의 상관관계에서 파이상관계수는 <TEX>${\phi}$</TEX>=0.893으로 통계적으로 유의한 높은 상관관계를 보였다(p<0.01). 본 연구의 결과, 간단하며 객관적 검사 도구인 사경종합평가는 사경을 치료하는 물리치료사가 쉽게 적용할 수 있어 임상에서 폭넓게 활용될 수 있을 것으로 기대한다. The purpose of this study was to investigate the correlation between ultrasonographic findings used to diagnose and assess of torticollis and a overall special assessment of congenital muscular torticollis in infants. Seventy-eight subjects with congenital muscular torticollis participated in this study. All the patients were divided into one of four clinical types according to the sternocleidomastoid muscle fibrosis noted on the ultrasonographic findings, and they were divided into one of three subgroups according to the degree of disability on the overall special assessment score of torticollis. For the ultrasonographic classifications of the 78 patients, 42(53.8%) made up the first type, 21 (26.9%) made up the second type, 7 (9.0%) made up the third type, and 8 (10.3%) made up the fourth type. Multivariate analysis of the results showed that the age at presentation was significantly different according to the ultrasonographic subtypes (p<0.01). There was significant correlation between the ultrasonographic findings and the torticollis overall assessment for patients with congenital muscular torticollis (<TEX>${\phi}$</TEX>=0.893, p<0.01). According to the results of this study, the use of the simple and objective torticollis overall assessment will be useful for the evaluation of torticollis in the future.

P20.11 Paroxysmal torticollis of infancy with eye movement abnormalities: a case report.

P20.11 Paroxysmal torticollis of infancy with eye movement abnormalities: a case report.

Manual therapy in infantile torticollis: a randomized, controlled pilot study

Torticollis in infancy is routinely treated by child physiotherapists. The addition of manual therapy to the treatment is a new approach in Norway. As the effect of manual therapy for this condition is poorly documented, we designed a pilot study to evaluate measurement methods and examine the short-time effect of manual therapy in addition to child physiotherapy. Randomized controlled trial, double blinded. Thirty-two patients aged 3-6 months were randomized to intervention group (manual therapy and child physiotherapy) and control group (child physiotherapy alone). Change of symptoms because of torticollis evaluated by video recordings. 12 parameters including spontaneous movements, active and passive range of motion and head righting reaction. We found a nonsignificant tendency to greater improvement in lateral flexion (p = 0.092) and head righting reaction (p = 0.116) in the intervention group. In this pilot study, we found that in patients with moderate symptoms related to torticollis, the short-time effect of manual therapy in addition to physiotherapy is not significantly better than physiotherapy alone.

„Cases against KiSS”: Ein diagnostischer Algorithmus des frühkindlichen Torticollis

In 1991, Biedermann coined the term "kinetic imbalance due to suboccipital strain" ("KiSS-syndrome"). He assumed a functional abnormality of the suboccipital-high cervical spine, resulting in positional preference of the infant;s head. A broad spectrum of symptoms and complaints have been attributed to "KiSS-Syndrome". Patients are advised to undergo manual therapy, with pressure applied locally in order to readjust the cervical spine. Life threatening side-effects have been published repeatedly. We present two infants with brain tumours who developed torticollis and further neurological findings such as ataxia and reflex differences. In both cases, symptoms caused by the tumour were interpreted as "KiSS-syndrome", and appropriate diagnostics and therapy were delayed for months. There is no scientific evidence for the actual existence of "KiSS-syndrome" as a clinical entity or for the positive effects of manual therapy. Approximately 12% of all infants <12 months show a positional preference of the head, about 8% present with body asymmetry. Whereas most cases are benign, there is a long list of serious differential diagnoses for torticollis in infants. We give an updated review of the literature regarding "KiSS-Syndrome" and discuss the differential diagnostics in infants with torticollis.

Congenital Muscular Torticollis in Infants: Ultrasound-Assisted Diagnosis and Evaluation

Congenital Muscular Torticollis in Infants: Ultrasound-Assisted Diagnosis and Evaluation

Congenital Muscular Torticollis in Infants: Ultrasound-Assisted Diagnosis and Evaluation

Ultrasonography is considered the modality of choice for differentiating congenital muscular torticollis from other pathologies in the neck. The authors present their experience with ultrasound examination for the evaluation and management of congenital muscular torticollis. Twenty-six infants, 14 boys and 12 girls, age ranging from 1 to 16 weeks, with torticollis and a palpable mass were examined. Ultrasound showed a well-defined mass in the sternocleidomastoid muscle. The lesions ranged in size from 8 to 15.8 mm on maximal transverse diameter, with length ranging from 13.7 to 45.8 mm. Clinically the torticollis disappeared between 1 to 6 weeks, with complete clinical reduction of the palpated mass between 2 and 8.5 weeks. The ultrasonographic disappearance of the mass was delayed by an average of 2 weeks in comparison to the clinical disappearance of the mass. Ultrasound is advocated for the diagnosis and follow-up of congenital muscular torticollis because it noninvasively provides reliable and dynamic information without sedation.