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Grisel's syndrome is a non-traumatic atlantoaxial (C1-C2) subluxation and one of the causes of torticollis in children. The subluxation occurs in the context of an infection in the ENT ("Ear Nose and Throat") region or following surgery. Diagnosis is based on clinical examination and radiological assessment. Treatment is typically medical and conservative, with surgical interventions reserved for recurrences and late presentations. We discuss here two cases of C1-C2 subluxation. The first case involves a 10-year-old child with subluxation following a rhinopharyngitis. This presentation is the classical manifestation of Grisel's syndrome. Prompt management led to correction of the subluxation using medical treatment and a soft Philadelphia collar. The second case involves a 34-year-old adult who developed posterior headaches after sphenoidotomy surgery. Grisel's syndrome is less common in adults, leading to clinical challenges and delayed diagnosis (> 1 month). Reduction combined with a halo vest treatment failed, and the patient required cervical arthrodesis.

Background: To date, the etiology and risk factors of torticollis are still poorly defined in the pediatric literature. Especially in the Emergency Department (ED) scenario, it is critical to reliably distinguish benign and transient conditions from (potentially) life-threatening disorders. This study describes the clinical characteristics of a large sample of children with torticollis. The aim of our study was to detect epidemiology, etiology and predictive variables associated with a higher risk of life-threatening conditions in acute torticollis., Methods: We conducted a pediatric retrospective study of acute torticollis over a 13-year period referred to the ED of a tertiary pediatric Hospital. We reported the characteristics in the overall sample and in two subgroups divided according to urgency of the underlying condition. Furthermore, we developed a multivariate model aimed at identifying the main clinical predictors of the need for urgent care., Results: 1409 patients were analyzed (median age 5.7 years, IQR 5.8). A history of trauma was present in 393 patients (27.9%). The symptom most frequently associated with torticollis were pain (83.5%). At least one pathological finding was found in 5.4 to 7.9% of patients undergoing further imaging. Hospitalization was required in 11.1% of cases (median duration 4 days). The most frequent etiologies of torticollis were postural cause (43.1%), traumatic (29.5%), and infective/inflammatory (19.1%). A longer time from onset of torticollis and the presence of headache or vomiting were strongly correlated with an underlying urgent condition, after adjusting for the other clinically and statistically significant variables in the bivariate analysis., Conclusion: Our study shows that an urgent condition most commonly occur in patients presenting with history of trauma or headache, vomiting and torticollis for more than 24 h should undergo further diagnostic evaluation and short-term follow-up, restricting invasive or expensive investigations to patients with clinical suspicion of an underlying harmful condition., (© 2024. The Author(s).)

Competing Interests: Competing interests: None declared.

Spinal instability is a challenging condition to manage in patients with cervical dystonia. Standard surgical stabilisation approaches may fail to cope with additional stress forces created by spasmodic muscles leading to construct failure either in the immediate or late post-operative period. Long-term stabilisation relies on the management of dystonic symptoms and adjunctive strategies to increase fusion success rate. We discuss the management of a challenging patient with translational C1/2 instability who had three metalwork failures with standard occipito-cervical fixation techniques within a 12 month period. A combined surgical approach using multipoint fixation, sternocleidomastoid myotomy and a vascularised fibular occiput-C2 bone graft successfully prevented further metalwork failure at over 2 years follow up.

Introduction: Deep brain stimulation (DBS) has been validated as a safe and effective treatment for refractory cervical dystonia (CD). Globus pallidus internus (GPi) and subthalamic nucleus (STN) are the two main stimulating targets. However, there has been no prospective study to clarify which target is the better DBS candidate for CD. The objective of this trial is to compare directly the efficacy and safety of GPi-DBS and STN-DBS, thereby instructing the selection of DBS target in clinical practice., Methods and Analysis: This multicentre, prospective, randomised, controlled study plans to enrol 98 refractory CD patients. Eligible CD patients will be randomly allocated to GPi-DBS group or STN-DBS group, with the DBS electrodes implanted into the posteroventral portion of GPi or the dorsolateral portion of STN, respectively. The primary outcome will be the improvement of symptomatic severity, measured by the changes in the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) severity subscale and the Tsui scale at 3 months, 6 months and 12 months after surgery. The secondary outcomes include the improvement of the TWSTRS-disability subscale, TWSTRS-pain subscale, quality of life, mental and cognitive condition, as well as the differences in stimulation parameters and adverse effects. In addition, this study intends to identify certain predictors of DBS efficacy for CD., Ethics and Dissemination: The trial has been approved by the Medical Ethics Committee of Chinese PLA General Hospital (S2022-613-01). The results of this study will be published in international peer-reviewed journals and shared in professional medical conferences., Trial Registration Number: NCT05715138., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Cervical hemivertebrae are extremely rare anomalies which usually present with restriction of neck movements and torticollis in childhood. Hemivertebrae within the craniovertebral junction have only been reported once previously in the literature. We report a case of semisegmented C2 vertebra presenting in a young adult with cervical pain and torticollis with no other associated anomalies., Case Description: A 21-year-old lady presented with a history of neck pain for the past 10 days and longstanding torticollis with head tilt to the left. Computed tomographic scan of the cervical spine revealed a semisegmented hemivertebra located laterally between the C1 lateral mass and C2 on the right side which was not associated with any other bony anomalies, scoliosis or atlantoaxial dislocation. Conservative treatment with physical therapy was the chosen therapeutic strategy., Conclusion: Hemivertebrae within the craniovertebral junction are exceedingly rare anomalies which may present with pain and deformity in childhood and are an important cause of congenital torticollis which may be associated with other spinal, craniofacial, cardiac or renal anomalies.

Background: Neuroblastoma is the most frequent extracranial solid tumor occurring in childhood, representing approximately 28% of all cancers diagnosed in infants. Signs and symptoms of neuroblastoma vary with the site of development of the tumor and can mimic other diseases due to its extreme clinical variability. However, torticollis is not reported in the medical literature as a leading symptom of neuroblastoma., Case Presentation: Here we report the case of a 3 years-old girl with fever and neck stiffness. Blood tests revealed a mild anemia and a rise in inflammatory markers. CT-scan showed a solid, heterogeneous, predominantly hypodense surrenal mass with eccentric calcification and extensive inhomogeneity of the vertebral metamers. Blood tests revealed raised serum levels of Neuron-Specific Enolase. At the 24-hours urine collection urinary catecholamines were greatly increased. A course of chemotherapy for neuroblastoma was promptly started with immediate clinical improvement., Conclusions: This case shows that the presence of torticollis could be a chief complaint of neuroblastoma. To our knowledge, neuroblastoma is not mentioned among life-threatening underlying conditions of torticollis in most recent literature reviews., (© 2023. Società Italiana di Pediatria.)

Introduction: Spontaneous spinal epidural hematoma (SSEH) is a rare entity, especially in toddlers and infants. The nonspecificity of its presenting symptoms in children may be a source of delayed diagnosis., Case Description: We report the case of a 20-month-old young boy without medical history who presented with irreducible torticollis, worsened a few days later by severe tetraplegia and respiratory distress. Spinal magnetic resonance imaging (MRI) showed a posterior epidural hematoma, extending from C3 to T1 and compressing the spinal cord. An urgent decompressive surgery via an extensive laminectomy and evacuation of the clot was performed. The patient demonstrated a partial neurological recovery on follow-up., Conclusion: SSEH is a rare and serious condition that may compromise the functional and vital prognosis of the patient, hence the importance of prompt diagnosis and urgent treatment., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose of Review: The purpose of this review is to outline the most recent understanding of torticollis in the pediatric population., Recent Findings: It is important to diagnose the underlying condition of torticollis early in childhood, as some conditions that cause torticollis may result in major developmental delays in early motor milestones. Recent studies have highlighted that many of the rarer causes of torticollis are often misdiagnosed as congenital muscular torticollis, suggesting that physicians should pay close attention to the results of clinical and radiographic examinations when patients present with torticollis., Summary: Congenital muscular torticollis is the most common cause of torticollis. Other, less common causes of torticollis include vertebral abnormalities, ocular torticollis, gastrointestinal disorders, soft tissue infections of the neck, posterior fossa tumors, and benign paroxysmal torticollis. Although rare, these differential diagnoses should be considered during a clinical work-up for a patient who presents with torticollis., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Atlantoaxial rotatory subluxation is an important differential diagnosis in young children with torticollis. The condition rarely results in neurological deficits. Radiological examinations such as computer tomography (CT) and magnetic resonance imaging (MRI) are useful to determine the diagnosis. It is important for doctors in all areas of healthcare to be aware of the condition, as persistent problems or surgery can be avoided by early detection and treatment.

Introduction: Atlantoaxial rotatory fixation (AARF) is a rare condition that occurs most commonly in children. The torticollis caused by AARF usually presents as abnormal posturing of the head and neck, with rotation of the chin to the opposite side. AARF in children could occur due to congenital bony malformation, minor trauma, upper respiratory tract infections (Grisel's syndrome), postoperatively after head and neck (ENT) surgery, and unknown reasons. AARF in the postoperative patient is a rare and poorly understood entity., Methods: The authors present a case report of a 2-year-old boy with Crouzon Syndrome undergoing posterior calvarial vault expansion (PVE) surgery that developed AARF as a complication., Results: The authors believe that cranial vault surgery should be considered a potential risk procedure for AARF, especially if it is done in susceptible populations (syndromic craniosynostosis patients) with other underlying sequelae (tonsillar ectopia or syringomyelia). During surgery, careful attention should be paid to maintaining a neutral alignment of the patient's cervical spine as rotatory movements under anaesthesia and muscle relaxation may be contributory factors., Conclusion: AARF should be suspected and investigated in children with painful torticollis after craniofacial surgery., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

To assess the frequency of torticollis as a presenting symptom of pediatric CNS tumors and its impact on pre-diagnostic symptom intervals (PSIs) and patient outcomes. We performed a systematic review of studies reporting torticollis in children with various CNS tumors. We searched PubMed for studies published from January 1972 to March 2021 in English. Case reports were included in the analysis if the following criteria were met (1) torticollis was the presenting symptom secondary to a CNS tumor (2) children <18 years of age, (3) underwent imaging intervention and (4) outcome data provided. Of 1,365 relevant articles, 45 were eligible for analysis according to our inclusion criteria representing 95 patients. Two independent investigators extracted the data, and a third investigator arbitrated discrepancies. We found that 38.9% of CNS tumors exhibited torticollis as the only presenting symptom. PSI lengths ranged from 0 to 4 years (median, 5 months) for low-grade tumors, and patient age and PSI length were inversely associated. Of patients with low-grade tumors, 23.8% received physiotherapy, in contrast with 0% of patients with high-grade tumors. PSI length also increased for patients who received rehabilitation, and 39.3% and 7.1% of patients with high-grade and low-grade tumors, respectively, died of their disease. Patients with low-grade tumors and torticollis as a primary presenting symptom were more likely to have a prolonged PSI. Therefore, CNS tumors should be considered in the differential diagnosis of acquired torticollis in children., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Objective: To investigate the clinical effect of posterior surgery in the treatment of craniovertebral junction (CVJ) deformities with torticollis and methods for preventing and treating complications in order to obtain a reasonable treatment strategy., Methods: From January 2007 to December 2017, 78 patients who suffered from CVJ deformities with torticollis treated by posterior surgery were analyzed. The surgical techniques were all posterior correction and fusion to restore the anatomical alignment of the craniovertebral junction. The visual analog score (VAS) and Short Form-36 (SF-36) health survey questionnaire were utilized to evaluate preoperative and postoperative neck pain, and changes in the torticollis angle and atlas-dens interval (ADI) were evaluated through anteroposterior X-ray and computed tomography. Intra- and postoperative complications were all recorded. One-way ANOVA, LSD-t test, and χ 2 test were performed to evaluate the difference between the preoperative and postoperative data., Results: The mean follow-up time was 37.4 ± 15.7 months, the average operation time was 115.6 ± 12.8 min, and the average blood loss was 170.8 ± 26.3 mL. According to the deformity site, the range of posterior correction and fusion was as follows: 38 cases of C 1 -C 2 , 33 cases of C 0 -C 2 , and seven cases of C 0 -C 3 . The preoperative SF-36, VAS, torticollis angle, and ADI were 42.6 ± 8.8, 4.8 ± 1.1, 37.2 ± 11.2°, and 4.9 ± 2.3 mm, respectively. The difference was significant at 3 months post operation (p < 0.05), and there was no significant difference at the final follow-up compared with 3 months post operation (p > 0.05)., Conclusion: It can objectively achieve favorable correction and satisfactory clinical effects under posterior correction and fixation for CVJ deformities with torticollis. Intra- and postoperative complications can be settled by proper management., (© 2022 The Authors. Orthopaedic Surgery published by Tianjin Hospital and John Wiley & Sons Australia, Ltd.)

Competing Interests: Competing interests: We have read and understood the BMJ policy on declaration of interests and have no relevant interests to declare.

Congenital torticollis (CMT) is the most common type of torticollis and is defined as a unilateral contracture of the sternocleidomastoid muscle resulting in lateral head tilt associated with contralateral rotation, and early detection and treatment may present a high probability of recovery of head posture symmetry. This study aimed to verify the incidence of torticollis in babies born in southern Portugal types, age of diagnosis and the risk factors. This study comprised 6565 infants born in the south of Portugal at Algarve University Hospital Center, Portimão unit during a 5-year period (January 2016 to December 2020). The cases diagnosed with torticollis referred to the Pediatrics and Pediatric Physiatrist consultations at this hospital were included. 118 babies—77 (65.3%) male and 41 (34.7%) female—were diagnosed with torticollis. The incidence of a 5-year period was 1.5%. Spontaneous vaginal delivery was prevalent (n = 56; 47.5%), with 106 (89.8%) deliveries with cephalic presentation. 53 (44.9%) cases of torticollis were classified as postural, 37 (31.4%) as muscular torticollis with joint limitation and 28 (23.7%) as congenital torticollis (with the presence of a nodule). Postural torticollis was diagnosed at an average age of 70.14 days, muscular torticollis with joint limitation at an average of 64.12 days and congenital torticollis at 33.25 days (p < 0.001). Plagiocephaly was present in 48 (40.7%) babies with torticollis (p = 0.005) and joint limitation in 53 (44.9%) babies (p < 0.001). The data obtained revealed a low incidence of CMT, with the majority being classified as postural. The age of diagnosis varied between 33 to 70 days from birth. The baby’s gender, mode of delivery and the fetal presentation during delivery did not show a statistically significant association with the presence of torticollis. Despite presenting a low incidence, it is important to mention the importance of professional health intervention in the implementation of prevention strategies.

The coronavirus disease of 2019 (COVID-19) pandemic is caused by a novel coronavirus SARS-Cov-2. Four major vaccine types are being used to fight against this deadly pandemic and save precious human lives. All types of vaccines have been associated with a risk of neurological complications ranging from mild to severe. Cervical dystonia occurring after a COVID-19 vaccine was not previously reported in the literature. In this article, we describe a case of acute cervical dystonia occurring after the first dose of the BNT162b2 COVID-19 vaccine. We attribute the occurrence of cervical dystonia to the vaccine due to the temporal relationship. This report adds to the literature a possible rare side effect of a COVID-19 vaccine and contributes to the limited literature on potential neurological side effects of mRNA-based vaccines. The likely mechanism is autoimmune. Further research is needed to probe and study the exact mechanism., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Purpose: A consistent relationship between CMT and DDH has been established. However, whether the presence of CMT has effect on clinical outcomes of DDH remains unanswered. This study aimed to evaluate clinical features and management of DDH in patients with CMT., Methods: We reviewed the medical records of 54 patients (91 hips) simultaneously diagnosed with DDH and CMT and included 54 patients (97 hips) with only DDH by random number method as the control group. Clinical and examination outcomes were recorded and compared, respectively., Results: The mean follow-up was 18.1 ± 14.5 months (range, 2 to 72 mo). In the DDH and CMT group, the age of initial treatment was lower (100.8 ± 92.3 vs. 229.0 ± 157.4 d, P < 0.001), and the rate of male significantly increased (42.6% vs. 11.1%, P < 0.001). Before treatment, development degree of hip was better than that of the DDH group. Therefore, patients with CMT had approximately 14 times greater odds of conservative treatment success than children in the DDH group (OR, 13.84; 95% CI, 3.16 to 60.60)., Conclusion: We concluded that CMT was not the risk factor for the failure of treatment. On the contrary, the identification of CMT may be beneficial to early discovery and treatment of DDH when we remain vigilant to perform physical exam and screen imaging of DDH for patients with CMT., (© 2021. The Author(s) under exclusive licence to SICOT aisbl.)

Torticollis is encountered often in the paediatric setting and should be considered a presenting symptom, rather than a diagnosis. Aetiologies of torticollis are numerous, and the nomenclature describing underlying diagnosis can be confusing. Furthermore, children with torticollis typically present in the first instance to primary or secondary care rather than to the subspecialist. These factors can contribute to erroneous treatment of this patient-group which could be time critical in some instances. In this review, we discuss the common causes for torticollis and propose a simple clinical assessment tool and early management scheme that will assist in the differential-diagnosis and treatment pathway of this challenging condition.Conclusion: Torticollis can be the initial presentation of various conditions. The diagnosis and management tools provided in this article can aid in guiding paediatricians as to the correct initial management, imaging, and specialist referral. What is Known: • Torticollis in childhood is a very common presenting symptom with numerous aetiologies. • Management is complex, requires multiple clinical and imaging examinations, and is usually performed by non-specialized professionals. What is New: • A new, simple clinical-assessment tool under the acronym PINCH designed to aid paediatric general practitioners in diagnosing correctly the aetiology of torticollis. • A practical management scheme to aid in the treatment pathway of children with torticollis., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Atlantoaxial rotatory fixation (AARF) comprises a spectrum of abnormal rotational relationships between C1 (atlas) and C2 (axis). We aimed to evaluate the efficacy and long-term clinical outcomes of halter traction in treating patients diagnosed with primary AARF., Methods: We included patients <18 years of age who presented with new-onset painful torticollis, neck pain, and sternocleidomastoid muscle spasm, had an AARF diagnosis confirmed by use of 3-dimensional dynamic computed tomography, received in-hospital cervical halter traction under our treatment protocol, and were followed for ≥12 months. Radiographic and long-term clinical outcomes were analyzed., Results: A total of 43 patients (31 male and 12 female; average age of 7.9 years) satisfied the inclusion criteria. There were 5 acute, 6 subacute, and 32 chronic cases. The mean duration of initial symptoms prior to treatment was 12.1 weeks. Thirty-seven (86.0%) of the patients experienced previous minor trauma, and 6 (14.0%) had a recent history of upper-respiratory infection (Grisel syndrome). The mean duration of in-hospital traction was 17.6 days. The mean follow-up period was 8.5 years. Forty-two (97.7%) of the patients achieved normal cervical alignment after treatment. One patient (2.3%) had recurrence and received a second course of halter traction, with cervical alignment restored without any surgical intervention. No neurological deficits were noted during or after the treatment. No major complications were observed., Conclusions: Normal anatomy and restoration of cervical alignment can be achieved by cervical halter traction in most cases of AARF., Levels of Evidence: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence., Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJS/G782)., (Copyright © 2021 by The Journal of Bone and Joint Surgery, Incorporated.)

Torticollis in children can be a sign of a potentially dangerous disease; the correct diagnosis is not always obvious on history and physical examination. The use of point-of-care ultrasound (POCUS) helps to limit the differential diagnosis and direct appropriate further laboratory and radiology-performed evaluation. We present a case of a 10-year-old child whose deep neck infection (DNI) was timely diagnosed in the paediatric emergency department by early use of POCUS and drained under POCUS guidance after admission to the hospital. The culture from the fluid grew Eikenella corrodens, Streptococcus constellatus and Prevotella buccae This case demonstrates that DNIs occur in children with acute acquired torticollis, even without fever and demonstrates the importance of early use of POCUS in cases where DNI is a potential diagnosis. Moreover, this case emphasises the importance of microbiological identification of DNIs that can be the key to successful treatment., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Spondyloarthritis presents in various and occasionally unusual ways that imitates other diseases. Without forthcoming risk factors, such atypical presentation may elude diagnosis for months. The case presented here of a child, aged 4 years, who is negative for human leukocyte antigen B27 (HLA-B27) and with no family history of HLA-B27 related disease, who developed torticollis with neck pain and lymphadenopathy, highlights the necessity of continually evaluating a diagnosis, especially when treatment fails to produce expected results. Painful torticollis in a child with adenopathy often is infectious in nature or potentially due to Griesel syndrome when persistent. Chronic arthritis of the cervical spine may enter the differential diagnosis when torticollis is persistent, and early recognition and aggressive treatment is necessary to prevent permanent functional impairment., (© 2021 Marshfield Clinic Health System.)

Sandifer syndrome is an extra oesophageal manifestation of gastrointestinal reflux disease that usually presents with torticollis and dystonia (often mimicking epilepsy). Here, we describe a case of a four and a half years old child with convulsion, neck contortion, and irritability. Gastrointestinal reflux disease was suspected on the earlier visit of the patient based on the presenting symptom of vomiting and cough. Electroencephalogram revealed normal findings. A barium meal radiograph was performed which was insignificant for gastrointestinal reflux disease and hiatal hernia. Complete blood count showed results suggestive of iron deficiency anaemia, while the rest of the biochemical parameters and the infection screening were normal. The case was confirmed by a medication trial for gastrointestinal reflux disease. This syndrome is often misdiagnosed as infantile seizure and musculoskeletal disorder. So, physicians need to have a sound knowledge of Sandifer Syndrome while assessing a child presenting with convulsion and torticollis.

Study Design: Case report., Introduction: Juvenile rheumatoid arthritis (JRA) typically presents with fever, rash, anterior uveitis, and/or joint pain. We present three cases with initial torticollis due to rotatory subluxation of C1-C2 as an initial sign of JRA., Case Reports: Three girls, ages 5-9, presented with C1-2 rotatory subluxation. Traction was able to reduce the atlanto-axial joint in all cases. Based on imaging, history, exam, and laboratory results, they were diagnosed with JRA. After reduction of the atlantoaxial joint, they were transitioned to a halo vest and disease-modifying antirheumatic drugs (DMARDs). The older 2 children underwent C1-2 fusion. The younger child has minimal symptoms and has not undergone surgical intervention 4 years from initial presentation., Conclusion: Rotatory subluxation can be the first presenting sign of JRA. Younger children may be able to be treated conservatively with traction and medication, while older children may require occiput to C2 fusion due to bony destruction and basilar invagination., Level of Evidence: IV., (© 2021. Scoliosis Research Society.)

Case: A 42-year-old woman presented with a severe neck pain and torticollis due to uncertain etiology. Because her radiographs and computed tomography revealed atlantoaxial rotatory fixation (AARF) that is an extremely rare condition in the adult population, a nonsurgical treatment was initially applied. Because 3 weeks of indirect traction failed, closed reduction was performed under general anesthesia at 2 months after onset, and her symptoms markedly improved without any complications and recurrence., Conclusion: Closed reduction under general anesthesia for nontraumatic AARF in adult patients might be an effective treatment option, even for chronic cases or intractable cases by traction treatment., Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/B355)., (Copyright © 2021 by The Journal of Bone and Joint Surgery, Incorporated.)

Atlantoaxial rotatory subluxation/fixation (AARS/F) is a rare cause of torticollis in children. The aim of our study is to investigate all possible clinical and radiological prognostic factors in children with AARS/F. We retrospectively reviewed all cervical spine CT scans of children with AARS/F treated in our Hospital over the last 15 years. AARS/F was classified according to Fielding and Hawkins classification and C1-C2 rotation-degree was calculated. Moreover, two orthopedic surgeons reviewed all clinical reports of these children. All patients were conservatively treated (cervical traction/neck collar). An early recovery was considered in patients with complete clinical/radiological healing at 3 months follow-up, while a late recovery was considered in patients with disease persistence or relapse at 3 months follow-up or earlier. Fifty-five patients with diagnosis of AARS/F were included in the study (mean age = 8.5 years old - 25F, 30M). In 9/55 subjects (16.4%), a late recovery was observed. The presence of a concomitant infection or inflammation in the head and neck region (Grisel's syndrome) was significantly associated with a late recovery (p < .001). Also, the type of AARS/F (p = .019), according to the Fielding and Hawkins classification, and C1-C2 rotation-degree (p = .027) were significantly correlated with the recovery time.Conclusion: In patients with AARS/F, the presence of a concomitant infection/inflammation in the head and neck region is the most important prognostic factor and it is associated with a late recovery. The Fielding and Hawkins classification and C1-C2 rotation-degree well correlate with patients' recovery time. What is Known: • Atlantoaxial rotatory subluxation/fixation (AARS/F) is a rare cause of torticollis in children and CT is the most useful imaging tool for diagnosis and classification of AARS/F. • Conservative treatments are effective in the majority of pediatric patients with AARS/F. What is New: • The presence of a concomitant infection/inflammation in the head and neck region associated with AARS/F (Grisel's syndrome) is the most important prognostic factor and it is associated with a late recovery. • C1-C2 rotation-degrees, as well as Fielding and Hawkins classification system, well correlate with patients' recovery time.

Ocular disease is one of the causes of abnormal head positioning. Conventionally, the behavioral characteristics of ocular torticollis patients are different from those of non-ocular torticollis patients, though research addressing the significance of this difference is yet limited. This prospective, cross-sectional study aims to develop a questionnaire based on the clinical features in children with abnormal head posture being ocularly assessed. Children aged ≥ 6 months who visited our rehabilitation medicine clinic with a chief complaint of abnormal head posture were included. Patients with apparent orthopedic and neurological diseases were excluded. A 10-item questionnaire was developed to analyze the behavioral characteristics of patients. The patients were divided into ocular and non-ocular torticollis groups according to ophthalmologic examination results. Thirty-four and 13 patients were assigned to the non-ocular torticollis and ocular torticollis groups, respectively. Five questions were finally selected and the questionnaire was scored as the sum of the scores for the each questions (yes = 1 point, no = 0 point). The median (interquartile range) score of the ocular torticollis group (3.0 (3.0-4.0)) was significantly higher than that of the non-ocular torticollis group (2.0 (1.0-3.0); p = 0.000).Conclusion: Our parent-reported torticollis assessment questionnaire may be useful for screening ocular torticollis. What is known: • Ocular disease is one of the various causes of abnormal head positioning. • The behavioral characteristics of patients with ocular torticollis are different from those of patients with non-ocular torticollis; research on this matter is limited. What is new: • We delveloped a questionnaire to differentiate ocular and postural torticollis and the score of the questionnaire was different between patients with or without ocular disease. • The questionnaire based on behavioral characteristics may help screening and determining the need of ophthalmic evaluation in patients with torticollis.

Fibromatosis colli, also known as 'sternocleidomastoid tumour of infancy' or 'pseudotumour of infancy', is a rare condition involving fibrosis and swelling, or 'tumour' of the sternocleidomastoid muscle in newborns that typically occurs after a traumatic delivery. Although usually self-limited, fibromatosis colli can lead to congenital muscular torticollis and positional plagiocephaly due to uneven forces on the neonatal skull. Ultrasound is the diagnostic imaging modality of choice and can prevent additional imaging and unnecessary intervention., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Competing Interests: The authors declare no conflict of interest.

Aim: To investigate the underlying conditions in children with torticollis., Material and Methods: Between May 2016 and December 2019, 24 patients (10 girls and 14 boys; mean age, 8 years) presenting with twisted neck, neck pain, weakness of extremities, imbalance, and gait disorder were evaluated retrospectively., Results: Five of the patients had cranial pathologies (cerebellar anaplastic ependymoma and medulloblastoma, brain stem glioma, atypical teratoid rhabdoid tumor, and acute disseminated encephalomyelitis), and five of the patients had spinal pathologies (idiopathic intervertebral disc calcification, vertebral hemangiomatosis, compression fracture, multiple hereditary exostoses, and Langerhans cell histiocytosis at C4). Six of the patients had ocular pathologies (strabismus, Duane syndrome, and Brown syndrome each in two patients). Four patients had otorhinolaryngological infections (Sandifer syndrome, esophageal atresia, reflux, and spasmus nutans, with one patient each). Detailed clinical physical examination and necessary laboratory investigation were performed for all patients., Conclusion: Torticollis is a sign that is not always innocent and may herald an underlying severe disease. Misdiagnosis can lead to wrong and unnecessary surgical procedures and treatments, and sometimes, the results can be damaging due to underlying severe conditions if diagnosed late. In addition, we first report a case of vertebral hemangiomatosis and temporomandibular joint ankylosis that presented with torticollis in the English medical literature.

Mouse models that replicate facets of human neurological diseases are often used at the pre-clinical stage to better understand the underlying mechanisms of a disease and test the target engagement of potential therapeutic interventions. We recently characterized a mouse model of childhood-onset parkinsonism-dystonia, a disease caused by a homozygous loss-of-function mutation in the SLC39A14 gene. The disease manifests itself phenotypically by impairments in locomotor behaviour and postural abnormalities. Our initial characterization of the model revealed that the Slc39a14 -/- mice showed altered Mn homeostasis and compromised locomotor performance in vertical pole-descending, horizontal beam-traversing, and rotarod tests (Jenkitkasemwong et al., 2018). However, some of the mice also displayed torticollis and Straub tail. In this study, we investigated whether these postural abnormalities affected the performance in the above motility tests and consequently, biased and compromised the external validity of reported abnormal locomotor profiles. Our analyses showed that the Slc39a14 -/- mice displaying torticollis and/or Straub tail had tests scores comparable to scores of their counterparts that never displayed these postural abnormalities. The z-score general index of performance revealed that the Slc39a14 -/- model presents a complex pathological motor phenotype relevant to the complexity of phenotypes identified in childhood-onset parkinsonism-dystonia., (Published by Elsevier Inc.)

Three patients ranging from 49 to 61 years-old presented to our pain clinic after failing multiple treatment attempts for debilitating, chronic post-traumatic headaches, neck pain and involuntary muscle spasm following gunshot wounds to the head, neck and face. Concurrent cervical dystonia was noted in each patient on presentation. All patients were treated with onabotulinumtoxin A (ONA) injections in the head and neck. Each patient reported between 70% and 100% improvement of their headache pain, neck pain and spasm with a significant reduction in the frequency, duration and intensity of their headaches. This level of improvement has been successfully maintained in all three patients with regular ONA injections at 90-day intervals. Two patients experienced a single relapse in symptoms when scheduling conflicts caused them to miss their regularly scheduled ONA injections by several weeks. These symptoms resolved when their ONA injections resumed, suggesting that ONA is the causative agent alleviating their symptoms., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Competing Interests: AUTHOR DISCLOSUREDrs Patel, Benjamin, and Gadiwala have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.