A systematic review of Sandifer syndrome in children with severe gastroesophageal reflux.

PURPOSE: Sandifer syndrome (SS), which combines gastroesophageal reflux (GER) and a neurological or psychiatric disorder, is an uncommon condition that often takes a long time to diagnosis. We aimed to systematically review available papers regarding SS. METHODS: After presenting our two cases of SS, we systematically reviewed articles published in MEDILINE/PubMed, Cochrane Library, and Web of Science. RESULTS: The meta-analysis included 54 reported cases and 2 of our own cases. Our results showed that all cases achieved symptom improvement with appropriate treatment for GER. Notably, 19 of the 56 cases exhibited anatomical anomalies, such as hiatal hernia and malrotation. Significantly more patients with than without anatomical anomalies required surgery (p < 0.001). However, 23 of the 29 patients without anatomical anomalies (79%) achieved symptom improvement without surgery. Patients who did not undergo surgery had a median (interquartile range) duration to symptom resolution of 1 (1-1) month. CONCLUSION: The primary care providers should keep SS in the differential diagnosis of patients presenting with abnormal posturing and no apparent neuromuscular disorders. Fundoplication may be effective especially for patients with anatomical anomalies or those whose symptoms do not improve after more than 1 month with nonsurgical treatment.

The application of electrophysiology in the correction of spastic torticollis by triple surgery-report of 96 cases.

OBJECTIVE: To investigate the effect and value of electrophysiology in the 'triple operation' (selective excision of spastic muscles in the neck, selective resection of the posterior branch of the cervical nerve and accessory neurotomy) of spastic torticollis. METHODS: Preoperative electromyography (EMG) examination was performed on 96 patients with spastic torticollis treated in our hospital from January 2015 to December 2019. The results were used to assess the responsible muscles' primary or secondary position and the function of antagonistic muscles and to formulate a personalised surgical plan. A Cascade PRO 16-channel electrophysiological diagnostic system (produced by Cadwell, USA) was used to record the evoked EMG. Target muscles were denervated under intraoperative electrophysiological monitoring and re-examined by EMG six months later to evaluate the efficacy. RESULTS: The satisfactory rate of target muscle denervation was 95%, and the overall good rate was 79.1%. CONCLUSION: Electrophysiological examination and intraoperative application may have a positive value in the selection of the operative method, improving the rate of denervation and evaluating the prognosis of the 'triple operation'.

[Surgical treatment of congenital muscular torticollis]. / Operative Behandlung des Torticollis muscularis congenitus.

OBJECTIVE: Surgical treatment of congenital muscular torticollis with tripolar release of the sternocleidomastoid muscle, followed by modified postoperative treatment with a special orthosis. INDICATIONS: Muscular torticollis due to contracture of the sternocleidomastoid muscle; failure of conservative therapy. CONTRAINDICATIONS: Torticollis due to bony anomaly or other muscular contractures. SURGICAL TECHNIQUE: Tenotomy of the sternocleidomastoid muscle occipitally and resection of at least 1 cm of the tendon at the sternal and clavicular origin. POSTOPERATIVE MANAGEMENT: Orthosis must be worn for 6 weeks 24 h/day, then for another 6 weeks 12 h/day. RESULTS: A total of 13 patients were treated with tripolar release of the sternocleidomastoid muscle and modified postoperative management. Average follow-up time was 25.7 months. One patient presented with recurrence after 3 years. No intra- or postoperative complications were observed.

Improvement of obsessive-compulsive disorder after pallidothalamic tractotomy for cervical dystonia.

A 30-year-old woman with tardive dystonia in the cervical region from long-term antipsychotic meds was treated with radiofrequency ablation of the right pallidothalamic tract in the fields of Forel. The patient showed improvement in both cervical dystonia and obsessive-compulsive disorder after the procedure, with 77.4% improvement in cervical dystonia and 86.7% improvement in obsessive-compulsive disorder. Although the treatment site in this case was intended to treat cervical dystonia, the lesion was located in the optimal stimulation network for both obsessive-compulsive disorder and cervical dystonia, suggesting that neuromodulation of this region could potentially treat both simultaneously.

Multipoint fixation with vascularised fibular bone graft and myotomy for atlanto-axial instability in cervical dystonia: a case report.

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.

Factors influencing and long-term effects of manual myotomy phenomenon during physiotherapy for congenital muscular torticollis.

PURPOSE: To investigate the factors influencing and long-term effects of manual myotomy (MM) occurring during physiotherapy for congenital muscular torticollis (CMT). METHODS: We retrospectively collected the clinical data of children with CMT receiving physiotherapy between 2008 and 2018. The children were divided into manual myotomy (MM) and non-manual myotomy (NMM) groups according to whether MM occurred during treatment. We assessed physiotherapy outcomes in children with CMT using craniofacial asymmetry parameters and the Cheng-Tang rating score. By measuring the ear-eye distance, ear-nose distance, eye-mouth distance, ear-mouth distance, half-head circumference, and half-head top at two sides to evaluate craniofacial asymmetry. Based on the Cheng-Tang assessment criteria, we recorded the range of rotation, range of lateral flexion, the status of the contracted muscle, the hardness of the mass, the extent of head tilting during activities and sleeping, the status of daily activities, face size, type of head shape, cranial changes, and subjective head tilting to assess the effectiveness of treatment. Clinical data and outcome indicators (craniofacial asymmetry parameters and Cheng-Tang rating score) were compared. RESULTS: The MM group had a significantly higher total Cheng-Tang rating score than the NMM group (P < 0.05). Age at initial physiotherapy session was the risk factor for MM during physiotherapy. CONCLUSION: Children with CMT developing MM during physiotherapy generally have a good outcome, although we do not recommend MM as a goal of treatment. Physiotherapists should understand this phenomenon, assess relevant factors to predict risk, and carefully observe treatment to prevent possible complications.

Posterior Surgery in the Treatment of Craniovertebral Junction Deformity with Torticollis.

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 χ2 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 C1 -C2 , 33 cases of C0 -C2 , and seven cases of C0 -C3 . 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.

A rare case of atlantoaxial rotatory fixation after posterior calvarial vault expansion surgery in a Crouzon patient.

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.

Torticollis, Facial Asymmetry, Local Pain, and Barré-Liéou Syndrome in Connection with One-Sided Ponticulus Posticus: A Case Report and Review of the Literature.

BACKGROUND: Ponticulus posticus (PP) occurs frequently and may cause symptom series, including vertebrobasilar insufficiency, migraine, hearing loss, and Barré-Liéou syndrome. However, few studies to date have described surgical treatment of PP. We report a rare case of a patient who suffered from torticollis, facial asymmetry, localized pain, and Barré-Liéou syndrome in connection with PP. We also review the pertinent literature, focusing on surgical treatment for symptoms due to PP. CASE PRESENTATION: A 23-year-old male presented with the chief complaint of continuous significant dizziness to the point of losing consciousness while rotating his head to the right. Plain radiographs and computed tomography (CT) scans of the cervical spine showed a С1 anomaly with the formation of complete PP on the left (dominant) side, with acute-angled, С-shaped kinking of the vertebral artery. Resection of PP via the posterior midline was performed successfully. The patient had satisfactory postoperative relief from localized pain and Barré-Liéou syndrome, but there were no obvious changes in the torticollis and facial asymmetry observed during the 3-month follow-up period. CONCLUSIONS: This case is a rare presentation of torticollis, facial asymmetry, localized pain, and Barré-Liéou syndrome in connection with one-sided complete PP. This tetrad indicates that PP may affect the patient earlier than expected. In such situations, early diagnosis and timely surgical treatment may significantly improve patients' quality of life and avoid the development of torticollis and face asymmetry.

Unilateral pallidothalamic tractotomy at Forel's field H1 for cervical dystonia.

BACKGROUND: Neurosurgical ablation of Forel's field H1 for cervical dystonia, which is currently abandoned, was formerly used in the 1960s-1970s. Regardless of the lack of neuroimaging modalities and objective evaluation scales, the reported efficacy was significant. Although recent studies have reappraised the ablation of the pallidothalamic tract at Forel's field H1 for Parkinson's disease, the efficacy for cervical dystonia has not been investigated well. METHODS: Data of 35 patients with cervical dystonia who underwent unilateral pallidothalamic tractotomy at Forel's field H1 were retrospectively analyzed. The Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) scores, the neck score of the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), and adverse events were evaluated preoperatively and at the last available follow-up period. RESULTS: The mean clinical follow-up period was 13.9 ± 6.5 months. The mean TWSTRS total scores were 34.3 ± 14.0 preoperatively and 18.4 ± 16.5 at the last available follow-up period (46.4% improvement, p < 0.0001). The BFMDRS neck score also improved significantly from 6.2 ± 2.9 preoperatively to 2.8 ± 2.8 at the last available follow-up period (55.0% improvement on the neck score, p < 0.0001). Reduced hand dexterity in seven patients, hypophonia in five patients, dysarthria in four patients, and executive dysfunction in one patient were confirmed as adverse events at the last available follow-up evaluation. One patient had postoperative hemorrhage. CONCLUSION: The current study confirmed significant improvement in TWSTRS total scores and BFMDRS neck scores at the 13.9-month follow-up after unilateral pallidothalamic tractotomy. The pallidothalamic tract in Forel's field H1 is expected to be an alternative treatment target for cervical dystonia.

Application of Ultrasonography During Sternocleidomastoid Muscle Release for Congenital Muscular Torticollis: A Case Report.

CASE: We report a 4-year-old girl with congenital muscular torticollis (CMT) who was treated with sternocleidomastoid muscle (SCM) tenotomy using ultrasonography (US). Prior to the surgery, US was utilized to identify the clavicle and sternum branches of the SCM, sternohyoid muscles, internal jugular vein, and common carotid artery. Then, local anesthesia was injected into the layer between the fascial sheath of the SCM and carotid sheath to reduce bleeding and avoid vascular injury. During surgery, the SCM dissection was carefully conducted under US guidance to avoid vascular injury. No residual of SCM dissection and improvement of neck motion were confirmed before the skin closure. Postoperative course was good with no obvious complications in this patient. CONCLUSION: The intraoperative US investigation during SCM tenotomy is a useful procedure that provides vital information about dissection area of SCM and orientation of internal jugular vein that reduces the risk of insufficient tenotomy and vascular injury.

Improvements in Nerve Dissection Surgery Methodology for Spasmodic Torticollis Treatment.

Spasmodic torticollis is the most common focal dystonia and is characterized by aberrant involuntary contraction of muscles of the neck and shoulders, which greatly affects patients' quality of life. Consequently, patients with this condition often desire treatment to alleviate their symptoms. The common clinical treatments for spasmodic torticollis include interventions such as drug therapy, botulinum toxin injections, and surgery. Surgical treatment is feasible for patients who do not respond well to other treatments or who are resistant to drugs. The gradual improvement of surgeons' understanding of anatomy and the ongoing developments in surgical techniques since their advent in the 1640s have resulted in many innovative surgical approaches that have led to improvements in the treatment of spasmodic torticollis. Previously used surgical treatments that result in uncertain outcomes, various postoperative complications, and serious damage to motor functions of the head and neck have gradually been discontinued. Nerve dissection surgery is the most common surgical treatment for spasmodic torticollis. This article reviews existing research on nerve dissection surgery for the treatment of spasmodic torticollis and the history of its development, along with the advantages and disadvantages of various surgical improvements. This article aims to provide clinicians with practical advice.

Embedded adaptive deep brain stimulation for cervical dystonia controlled by motor cortex theta oscillations.

Dystonia is a disabling movement disorder characterized by excessive muscle contraction for which the underlying pathophysiology is incompletely understood and treatment interventions limited in efficacy. Here we utilize a novel, sensing-enabled, deep brain stimulator device, implanted in a patient with cervical dystonia, to record local field potentials from chronically implanted electrodes in the sensorimotor cortex and subthalamic nuclei bilaterally. This rechargeable device was able to record large volumes of neural data at home, in the naturalistic environment, during unconstrained activity. We confirmed the presence of theta (3-7 Hz) oscillatory activity, which was coherent throughout the cortico-subthalamic circuit and specifically suppressed by high-frequency stimulation. Stimulation also reduced the duration, rate and height of theta bursts. These findings motivated a proof-of-principle trial of a new form of adaptive deep brain stimulation - triggered by theta-burst activity recorded from the motor cortex. This facilitated increased peak stimulation amplitudes without induction of dyskinesias and demonstrated improved blinded clinical ratings compared to continuous DBS, despite reduced total electrical energy delivered. These results further strengthen the pathophysiological role of low frequency (theta) oscillations in dystonia and demonstrate the potential for novel adaptive stimulation strategies linked to cortico-basal theta bursts.

A case report of malignant hyperthermia in a patient with myotonic dystrophy type I: A CARE-compliant article.

RATIONALE: Several hereditary myopathies that can predispose to malignant hyperthermia (MH) are reported. However, the risk of MH in myotonic dystrophy type I (DM1) has been suggested equal to general population, although the evidence is limited to only a few case reports. PATIENT CONCERNS: We encountered a rare case of MH during anesthesia induction with sevoflurane in a male adolescent with previously undiagnosed DM1. DIAGNOSES: After the event, genetic testing revealed the presence of a previously unknown heterozygous missense mutation in ryanodine receptor 1 (RYR1) associated with MH (c.6898T > C; p.ser2300Pro). Concomitantly, the patient was diagnosed with DM1 with abnormal cytosine-thymine-guanine triplet expansion in the DMPK gene. INTERVENTIONS: Dantrolene was administered to treat the hypermetabolic manifestations in 20 minutes after the identification of MH. OUTCOMES: The patient was successfully treated and discharged without any complications. Laboratory abnormalities were recovered to baseline at postoperative 4 days. LESSONS: The authors suggest that possible MH susceptibility in DM1 patients may be refocused. Genetic testing can be a screening tool for MH susceptibility in these population, prior to receiving general anesthesia.

A rare case of difficult airway management in a Klippel-Feil syndrome pediatric patient with osseous torticollis undergone orthopedic surgery : Difficult airway in pediatric patient with torticollis.

BACKGROUND: Orthopedic surgery for cervical torticollis poses potential threat to airway management both in tracheal intubation and extubation. Klippel-Feil syndrome (KFS) is a complex syndrome of osseous and visceral anomalies. The anatomical characteristics of KFS might have significant implications for airway management. CASE PRESENTATION: This is a rare case of an 8-year-old boy presenting with osseous torticollis, congenital occipito-atlantal deformity, congenital basilar invagination and KFS undergone elective torticollis correction surgery. Though with difficulty, tracheal intubation was successfully performed. Extubation failed twice on postoperative day 2 and 10, and required tracheostomy. Based on radiological findings, we speculated that prolonged airway edema accounted for the main reason of the failed extubation, the hypertrophic tonsil and occipito-cervical fusion resulted in reduced oropharyngeal space and limited cervical range of motion. Moreover, the Chiari malformation and KFS complicated the airway condition and lead to prolonged airway obstruction. The tracheostomy casing was removed 1 month later. CONCLUSIONS: Cautions should be taken in extubation of pediatric patients undergone major osseous torticollis surgery. Reintubation should be prepared in case of failed extubation. Severe post-operative airway edema, complicated with hypertrophic tonsil, the structural abnormalities in the oropharyngeal cavity, and occipito-cervical deformities constituted the decreased oropharyngeal space and resulted in failed extubation. For severe airway compromise and prolonged intubation, tracheostomy should be considered.

Retro-Odontoid and Retro-C2 Body Pseudotumor, Pannus, and/or Cyst. A Study Based on Analysis of 63 Cases.

OBJECTIVE: The potential significance of relationship of atlantoaxial instability with retro-odontoid pseudotumor, pannus, and/or cyst (RPC) is analyzed. METHODS: We searched the database of patients with craniovertebral junction-related instability treated by atlantoaxial fixation from January 2000 to March 2020. We identified 63 patients in whom there was an RPC in the region posterior to the odontoid process or posterior to the posterior aspect of the C2 body. RESULTS: The RPC was solid in 10 patients, predominantly cystic in 39 patients, and had both solid and cystic components in 14 patients. The vertical dimension of the RPC varied from 4.5 to 10.5 mm (average, 7.9 mm) and the transverse dimension ranged from 2 to 5.2 mm (average, 3.4 mm). In 51 patients, the RPC was in the midline and in 9 patients, it was eccentric in location. In 38 patients, there was erosion of the C2 body adjoining the RPC. Analysis of investigations showed that in 100% of patients, the dome of the RPC was in line with the most susceptible point of potential bone compression of neural structures. The RPC was eccentric in location in 9 patients presenting with torticollis. RPC indicated the presence of atlantoaxial instability even when there were no other positive and validated radiologic indicators. After atlantoaxial stabilization, the RPC spontaneously regressed or disappeared. Direct resection of the RPC was neither performed nor was necessary in any case. CONCLUSIONS: RPCs are secondary consequences of atlantoaxial instability and need not be primarily addressed by surgical resection. Their location suggests that they might have a neural protective function.

Pallidal Deep Brain Stimulation in Patients with Prior Bilateral Pallidotomy and Selective Peripheral Denervation for Treatment of Dystonia.

INTRODUCTION: Deep brain stimulation (DBS) of the globus pallidus internus has become an accepted treatment for severe isolated idiopathic and inherited dystonia. Patients who had other forms of surgery earlier, such as radiofrequency lesioning or selective peripheral denervation, however, usually are not considered candidates for DBS. OBJECTIVE: The aim of this study was to evaluate the long-term outcome of pallidal DBS in a rare subgroup of patients who had undergone both pallidotomy and selective peripheral denervation previously with a waning effect over the years. METHODS: Pallidal DBS was performed according to a prospective study protocol in 2 patients with isolated idiopathic dystonia, and patients were followed for a period of at least 6 years. RESULTS: Both patients benefitted from long-lasting amelioration of dystonia after pallidal DBS, which was comparable to that of patients who did not have previous surgeries. In a 62-year-old female with cervical dystonia both the Burke-Fahn-Marsden (BFM) and the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) motor scores were improved at follow-up 8 years after surgery (50 and 39%). In a 32-year-old male with generalized dystonia, the BFM motor and disability scores showed marked improvement at 6.5 years of follow-up (82 and 66%). CONCLUSIONS: Pallidal DBS can yield marked and long-lasting improvement in patients who underwent both pallidotomy and selective peripheral denervation earlier. Therefore, such patients, in general, should not be excluded from DBS.