Objective: To investigate the clinical features and genetic features of combined oxidative phosphorylation deficiency 32 (COXPD32) caused by MRPS34 gene variation. Methods: The clinical data and genetic test of a child with COXPD32 hospitalized in the Department of Neurology, Children's Hospital, Capital Institute of Pediatrics in March 2021 were extracted and analyzed. A literature search was implemented using Wanfang, China biology medicine disc, China national knowledge infrastructure, ClinVar, human gene mutation database (HGMD) and Pubmed databases with the key words "MRPS34" "MRPS34 gene" and "combined oxidative phosphorylation deficiency 32" (up to February 2023). Clinical and genetic features of COXPD32 were summarized. Results: A boy aged 1 year and 9 months was admitted due to developmental delay. He showed mental and motor retardation, and was below the 3^rd percentile for height, weight, and head circumference of children of the same age and gender. He had poor eye contact, esotropia, flat nasal bridge, limbs hypotonia, holding instability and tremors. In addition, Grade Ⅲ/6 systolic murmur were heard at left sternal border. Arterial blood gases suggested that severe metabolic acidosis with lactic acidosis. Brain magnetic resonance imaging (MRI) showed multiple symmetrical abnormal signals in the bilateral thalamus, midbrain, pons and medulla oblongata. Echocardiography showed atrial septal defect. Genetic testing identified the patient as a compound heterozygous variation of MRPS34 gene, c.580C>T (p.Gln194Ter) and c.94C>T (p.Gln32Ter), with c.580C>T being the first report and a diagnosis of COXPD32. His parents carried a heterozygous variant, respectively. The child improved after treatment with energy support, acidosis correction, and "cocktail" therapy (vitaminB₁, vitaminB₂, vitaminB₆, vitaminC and coenzyme Q10). A total of 8 cases with COXPD32 were collected through 2 English literature reviews and this study. Among the 8 patients, 7 cases had onset during infancy and 1 was unknown, all had developmental delay or regression, 7 cases had feeding difficulty or dysphagia, followed by dystonia, lactic acidosis, ocular symptoms, microcephaly, constipation and dysmorphic facies(mild coarsening of facial features, small forehead, anterior hairline extending onto forehead,high and narrow palate, thick gums, short columella, and synophrys), 2 cases died of respiratory and circulatory failure, and 6 were still alive at the time of reporting, with an age range of 2 to 34 years. Blood and (or) cerebrospinal fluid lactate were elevated in all 8 patients. MRI in 7 cases manifested symmetrical abnormal signals in the brainstem, thalamus, and (or) basal ganglia. Urine organic acid test were all normal but 1 patient had alanine elevation. Five patients underwent respiratory chain enzyme activity testing, and all had varying degrees of enzyme activity reduction. Six variants were identified, 6 patients were homozygous variants, with c.322-10G>A was present in 4 patients from 2 families and 2 compound heterozygous variants. Conclusions: The clinical phenotype of COXPD32 is highly heterogenous and the severity of the disease varies from development delay, feeding difficulty, dystonia, high lactic acid, ocular symptoms and reduced mitochondrial respiratory chain enzyme activity in mild cases, which may survive into adulthood, to rapid death due to respiratory and circulatory failure in severe cases. COXPD32 needs to be considered in cases of unexplained acidosis, hyperlactatemia, feeding difficulties, development delay or regression, ocular symptoms, respiratory and circulatory failure, and symmetrical abnormal signals in the brainstem, thalamus, and (or) basal ganglia, and genetic testing can clarify the diagnosis.
Humans ; Male ; Acidosis, Lactic ; Brain ; Brain Stem ; Dystonia ; Dystonic Disorders ; Mitochondrial Diseases ; Infant

Professor WU Lian-zhong's experience in treating spasmodic torticollis by Kaiqiao Shunjin method (resuscitation and regulating muscle) is summarized in this paper. The pathogenesis of spasmodic torticollis is the occluded brain orifices and delirium, qi disorder of meridian tendons, specifically divided into five categories: damp-heat, liver-yang hyperactivity, liver-kidney yin deficiency, deficiency of the governor vessel, excess of the governor vessel. The treatment should be based on the symptoms and the root causes, the symptoms should be the main treatment, and the root cause should be treated based on syndrome differentiation. The main treatment is Kaiqiao Shunjin method (resuscitation and regulating muscle), and to take the chief (five heart acupoints-Shuigou [GV 26], Laogong [PC 8], Yongquan [KI 1]), deputy (Yintang [GV 24⁺], Shangxing [GV 23] through Baihui [GV 20], Ximen [PC 4]), assistant (Fenglong [ST 40], Lianquan [CV 23], combined with tongue needle prick), envoy (Hanyan [GB 4]) as the basic main acupoints, at the same time cooperate with local acupoints to remove knots and accumulation. Finally, syndrome differentiation is adopted to dredge meridians and disperse knots, regulate the governor vessel, and nourish yin and dispel wind.
Acupuncture Points ; Acupuncture Therapy/history* ; Humans ; Meridians ; Needles ; Syndrome ; Torticollis/therapy*

X-linked dystonia-parkinsonism (XDP) is an adult-onset debilitating neurodegenerative disorder presenting with motor and nonmotor symptoms. The treatment options for XDP are limited. We described a patient with XDP who underwent a unilateral transcranial magnetic resonance-guided focused ultrasound (tcMRgFUS) pallidothalamic tractotomy with a one-year follow-up. The patient reported an immediate improvement in his pain after the procedure. Compared to baseline, there was an improvement in his scores in the dystonia (31%), parkinsonism (35.1%), and activities of daily living (71%) subscales at 1-year follow up. The overall improvement at one year was 46%. There were no adverse events noted. Additional studies with larger sample size and follow-up would be needed to document its long-term safety and efficacy.
Dystonia 3, Torsion, X-Linked ; Dystonic Disorders ; Genetic Diseases, X-Linked

The thinking and experience of professor
Acupuncture Points ; Acupuncture Therapy ; Humans ; Meridians ; Moxibustion ; Torticollis/therapy*

OBJECTIVE: To explore the clinical characteristics and genetic variants in a child with tyrosine hydroxylase-deficient infantile Parkinsonism with motor delay. METHODS: Clinical feature of the patient was summarized. Genomic DNA was extracted from peripheral blood samples taken from the child and her family members. All exons of GCH1, TH and SPR genes were subjected to targeted capture and next-generation sequencing. Suspected variants were verified by Sanger sequencing. RESULTS: The child could not sit alone at 7 month and 11 days. Physical examination suggested motor retardation and hypotonia, limb stiffness, head nodding, slight torticollis, and language and intellectual developmental delays. She developed involuntary shaking of limbs at 3 month old, which lasted approximately 10 seconds and aggregated with excitement and before sleeping. Cranial MRI revealed widening of subarachnoid space on the temporomandibular and particularly temporal sides. Genetic testing revealed that she has carried a nonsense c.457C>T (p.R153X) variant, which was known to be pathogenic, and a novel missense c.720C>G (p.I240M) variant of the TH gene. The two variants were derived from her father and mother, respectively. CONCLUSION The child was diagnosed as tyrosine hydroxylase-deficient infantile Parkinsonism with motor delay due to compound heterozygous variants of the TH gene. Above finding has enriched the spectrum of TH gene variants.
Brain ; diagnostic imaging ; Codon, Nonsense ; Dystonic Disorders ; congenital ; genetics ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Magnetic Resonance Imaging ; Mutation ; Parkinsonian Disorders ; genetics ; Tyrosine 3-Monooxygenase ; genetics

Deep brain stimulation (DBS) in internal globus pallidus is considered to be a good option for controlling generalized dystonia in patients with this condition. In this relation, it is known that DBS has already been shown to have significant effects on primary dystonia, but is seen as controversial in secondary dystonia including cerebral palsy (CP). On the other hand, intrathecal baclofen (ITB) has been known to reduce spasticity and dystonia in patients who did not respond to oral medications or botulinum toxin treatment. Here, we report a patient with dystonic CP, who received the ITB pump implantation long after the DBS and who noted remarkable improvement in the 36-Item Short Form Health Survey, Dystonia Rating Scale, Modified Barthel Index, and visual analog scale scores for pain after an ITB pump implantation was used as compared with DBS. To our knowledge, the present case report is the first to demonstrate the effects of an ITB pump on reducing pain and dystonia and improving quality of life and satisfaction, compared with DBS in a patient with CP.
Baclofen ; Botulinum Toxins ; Cerebral Palsy ; Deep Brain Stimulation ; Dystonia ; Dystonic Disorders ; Globus Pallidus ; Hand ; Health Surveys ; Humans ; Muscle Spasticity ; Quality of Life ; Visual Analog Scale

BACKGROUND: Congenital muscular torticollis (CMT) is characterized by persistent head tilt toward the affected side. No consensus exists regarding the cause of this disorder. In this study, we analyzed various clinical factors in patients with CMT who were treated with surgical release. This analysis enabled us to identify potential causative factors of CMT and to establish a basis for surgical interventions. METHODS: In total, 584 patients who underwent surgical intervention for CMT from October 2007 to December 2016 were included in this study. Their demographic characteristics, birth-related factors, and clinical features were analyzed. RESULTS: Data from 525 patients were analyzed in this study after exclusion of those with insufficient information. Before birth, 31 patients (5.9%) were diagnosed with oligohydramnios, and 87 (16.6%) had a breech presentation. Seven (1.3%) cases of clavicle fracture and two (0.4%) cases of cephalohematoma were noted at birth. Before surgery, 397 patients (75.6%) underwent physiotherapy and 128 patients (24.4%) did not. The duration of physiotherapy ranged from 1 to 50 months (average, 6 months). CONCLUSIONS: Our study shows that 16.6% of the CMT patients presented in the breech position, which is a much higher rate than that observed in the general population (3%–4%). We hypothesize that being in the breech position as a fetus appears to exert a significant influence on shortening and fibrosis of the sternocleidomastoid muscle.
Breech Presentation ; Clavicle ; Consensus ; Female ; Fetus ; Fibrosis ; Head ; Humans ; Oligohydramnios ; Parturition ; Pregnancy ; Retrospective Studies ; Torticollis

BACKGROUND: Although secondary cervicothoracic scoliosis frequently occurs in patients with congenital muscular torticollis (CMT), the relationship between scoliosis and CMT has not been evaluated. This study aims to evaluate the effects of surgical release of sternocleidomastoid (SCM) muscle on secondary cervicothoracic scoliosis in patients with CMT and determine factors affecting the improvement of scoliosis after surgical release of SCM muscle. METHODS: Eighty-seven of the 106 patients, confirmed as having secondary cervicothoracic scoliosis with CMT with a minimum 1-year follow-up, were included in this study. Preoperative and last follow-up radiologic outcomes were assessed for the cervicomandibular angle (CMA), Cobb angle of the cervicothoracic scoliosis, and direction of convexity in the scoliosis curve. Patients were divided into two groups to assess the improvement of Cobb angle according to residual growth potential; age ≤ 15 years and > 15 years. The improvement of Cobb angle after surgical release was compared in the two groups. Correlation analysis and multivariable regression analysis were performed to determine the factors affecting the improvement of scoliosis. RESULTS: All the radiologic parameters, such as the Cobb angle and CMA, improved significantly after surgical release (p < 0.001). The improvement of Cobb angle was significantly higher in age ≤ 15 years than in age > 15 years (p < 0.001). The improvement of Cobb angle was significantly correlated with age (r = −0.474, p < 0.001) and the preoperative Cobb angle (r = 0.221, p = 0.036). In multivariable regression analysis, age and preoperative Cobb angle were shown to be predisposing factors affecting the improvement of scoliosis. CONCLUSIONS: The results showed that SCM release can be a beneficial treatment for secondary cervicothoracic scoliosis. The improvement of scoliosis was greater when the SCM release was performed before the patient reached the end of growth.
Causality ; Follow-Up Studies ; Humans ; Scoliosis ; Torticollis

Torticollis is an abnormal, asymmetric head or neck position which usually caused by imbalance of paracervical muscles. The traumatic torticollis can be caused by following events; atlantoaxial rotatory subluxation, atlantoaxial dislocation, cervical vertebral fractures, and injury to the cervical musculature. Especially, acute traumatic atlantoaxial rotatory subluxation usually presents limitation of cervical range of motion without pain or neurologic deficit. We report a case of a 58 year-old man who developed the acute atlantoaxial rotatory subluxation right after the chiropractic therapy, which induced the limitation of cervical range of motion to 52.5% of normal range. The magnetic resonance image revealed the facture of the odontoid process and the partial injury in transverse ligaments of the atlas. He underwent intramuscular botulinum toxin injection and 10 days of continuous cervical traction 15 hours a day using a 5 kg weight. The range of the cervical motion restored up to 90.2% of normal range.
Atlanto-Axial Joint ; Botulinum Toxins ; Chiropractic ; Dislocations ; Head ; Ligaments ; Muscles ; Neck ; Neurologic Manifestations ; Odontoid Process ; Range of Motion, Articular ; Reference Values ; Torticollis ; Traction

OBJECTIVE: To discuss a case of congenital muscular torticollis and its presentation, pathophysiology and management. 

METHODS:

                    Design: Case Report

                    Setting: Tertiary Private Hospital

                    Patient: One

RESULTS: An 11-year-old girl presented with tilting of head to the right and progressive limitation of head movement since infancy. MRI showed a shortened right sternocleidomastoid muscle. The patient underwent surgical release of torticollis. Full range of motion of the neck was achieved after the surgical management.

CONCLUSION: Congenital torticollis is a rare condition of the head and neck region. Physicians should be familiar with this entity and its presentation and it should be considered in the differential diagnosis of patients with progressive limitation of head movement in order to initiate early treatment and avoid progressive physical deformity.

KEYWORDS: congenital muscular torticollis; familial spasmodic torticollis