1.Primary intracranial germ cell tumors in children: a clinical retrospective analysis of 126 cases
Juanyu XU ; Yixuan HE ; Xiaoguang QIU ; Chunde LI ; Yajie WANG ; Yaxian DENG
Chinese Pediatric Emergency Medicine 2025;32(6):454-459
Objective:To summarized the clinical characteristics of intracranial germ cell tumors(iGCTs)in children, with the ultimate goal of facilitating early tumor identification and guiding the prompt selection of appropriate treatment strategies.Methods:A retrospective analysis was conducted on pediatric patients with primary iGCTs admitted to Beijing Tiantan Hospital Affiliated to Capital Medical University between March 2021 and June 2022. Patient age, gender, clinical manifestations, tumor marker levels in cerebrospinal fluid (CSF) and blood, imaging features, and histopathological examination results were meticulously collected and statistically analyzed.Results:A total of 126 pediatric patients with iGCTs were included in the study, of which 86 cases (68.3%) were male,and 40 cases (31.7%) were female.The average age was (10.0 ± 3.5) years old. The mean age of onset was found between 6~14 years old(80.1%), with a male-to-female ratio of 2.2:1.The tumors were predominantly located in the sellar region (30.2%), basal ganglia (23.8%), and pineal region (19.8%). Notably, there were distinct differences in tumor location across different age groups: pineal region tumors were most prevalent in preschool children (71.4%), basal ganglia tumors were more common in school-age children (41.9%), and sellar region involvement was highest among adolescent patients(44.8%). Based on molecular marker analysis and biopsy diagnosis, 79 cases were classified as germinoma, 3 as teratoma, 2 as yolk sac tumor, 1 as choriocarcinoma, and 41 as mixed germinoma.All children underwent head CT and MRI examinations. Among them, 99 cases showed high-density lesions on CT,while 27 cases showed mixed density,including 39 cases of calcification and 35 cases of hydrocephalus.MRI revealed atrophy of the cerebral peduncle, caudate nucleus head, or cerebral cortex in 38 cases, involvement of the basal ganglia in 33 cases, and midbrain involvement in 5 cases.Blood β-human chorionic gonadotropin (β-HCG) and alpha-fetoprotein (AFP) levels were examined in all patients, while CSF tumor marker levels were analyzed in 103 cases. There were 76 cases with elevated β-HCG in blood and/or cerebrospinal fluid, and 24 cases with elevated AFP in blood and/or CSF.Additionally, all 86 male patients underwent genital ultrasound, revealed testicular microlithiasis in 12 cases and testicular cysts in 6 cases.Conclusion:The clinical presentation of iGCTs in pediatric patients exhibits significant heterogeneity in terms of epidemiology, classification, tumor location, and molecular markers. Notably, CSF β-HCG and AFP levels are equally crucial diagnostic indicators alongside blood tumor markers.Histological examination should be performed as early as possible in clinically suspected cases with negative tumor markers. Clinicians should remain vigilant for early imaging negative potential cases. In addition, male children with testicular microlithiasis or cysts should be closely followed up.
2.Consensus on diagnosis and treatment of adolescent idiopathic scoliosis
Yushu BAI ; Kai CHEN ; Jie SHAO ; Xiao ZHAI ; Ming CHEN ; Weishi LI ; Jianzhong XU ; Bangping QIAN ; Zezhang ZHU ; Feng ZHU ; Chunde LI ; Jianguo ZHANG ; Jianxiong SHEN ; Dingjun HAO ; Xiaodong ZHU ; Junlin YANG ; Xuejun ZHANG ; Xuesong ZHANG ; Fangyi ZHANG ; Qijie WANG ; Wenzhi ZHANG ; Yong HAI ; Jianhua ZHAO ; Yong QIU ; Yan WANG ; Guixing QIU ; Ming LI
Academic Journal of Naval Medical University 2025;46(3):291-300
Adolescent idiopathic scoliosis(AIS)is a complex three-dimensional deformity involving coronal,sagittal,and axial planes,with a prevalence that should not be overlooked.With advancements in technology and in-depth research,an increasing number of hospitals and physicians are exploring standardized diagnostic and treatment approaches for AIS.Comprehensive and in-depth understanding is required for AIS,including its etiology,screening and diagnosis,classification,assessment and examination,treatment options,exploration of current focus,and evaluation of quality of life.Such understanding ensures that the diagnostic and treatment are scientific,standardized,and timely.Based on the principles of evidence-based medicine,a consensus on the diagnosis and treatment of AIS is reached after multiple discussions among spinal surgery experts,aiming to provide reference and guidance for clinical practice.
3.Evidence-based guidelines for rehabilitation treatment after internal fixation of thoracolumbar spine fracture in adults (version 2025)
Zhengwei XU ; Liming CHENG ; Qixin CHEN ; Jian DONG ; Shunwu FAN ; Zhong FANG ; Shiqing FENG ; Haoyu FENG ; Haishan GUAN ; Weimin JIANG ; Dianming JIANG ; Yong HAI ; Lijun HE ; Yuan HE ; Bo LI ; Jianjun LI ; Feng LI ; Li LI ; Weishi LI ; Chunde LI ; Qi LIAO ; Baoge LIU ; Xiaoguang LIU ; Yong LIU ; Xuhua LU ; Shibao LU ; Bin LIN ; Wei MEI ; Chao MA ; Renfu QUAN ; Limin RONG ; Jiacan SU ; Honghui SUN ; Yuemin SONG ; Hongxun SANG ; Jun SHU ; Tiansheng SUN ; Jiwei TIAN ; Qiang WANG ; Xinwei WANG ; Zhe WANG ; Zheng WANG ; Liang YAN ; Guoyong YIN ; Jie ZHAO ; Yue ZHU ; Xiaobo ZHANG ; Xuesong ZHANG ; Zhongmin ZHANG ; Rongqiang ZHANG ; Dingjun HAO ; Yanzheng GAO ; Baorong HE
Chinese Journal of Trauma 2025;41(1):19-32
Thoracolumbar spine fracture often leads to severe pain, functional impairments, and neurological deficits, for which open reduction and internal fixation can effectively restore the spinal structural stability. Open decompression and reduction with internal fixation can help relieve spinal cord compression and improve spinal function in cases of concomitant cord injury. Although spinal stability can be restored through surgery, patients often face chronic pain and functional impairments postoperatively. A postoperative rehabilitation program is critical in optimizing therapeutic outcomes, reducing complications, and minimizing the risk of secondary injuries. However, current rehabilitation methods, such as physical therapy, functional training, and pain management, are confronted with problems in clinical practice, including significant variation in efficacy, poor patient adherence, and prolonged rehabilitation period. There is an urgent need for a unified rehabilitation strategy to address these problems. To this end, the Spinal Trauma Group of the Orthopedic Physicians Branch of the Chinese Medical Association and the Spine Health Professional Committee of the Chinese Human Health Technology Promotion Association organized experts from relevant fields to formulate Evidence-based guidelines for rehabilitation treatment after internal fixation of thoracolumbar spine fracture in adults ( version 2025) by integrating evidences from clinical researches and advanced rehabilitation concepts at home and abroad. A total number of 14 recommendations concerning the rehabilitation treatment with multimodal analgesia, psychological intervention, deep vein thrombosis prevention, core muscle and extremity exercise, appropriate use of braces, early weight-bearing, device-aided rehabilitation exercise, neuroregulatory therapy, rehabilitation team were put forward, aiming to standardize the post-operative rehabilitation process following internal fixation, promote the functional recovery, and enhance patients′ quality of life.
4.Clinical guideline for vertebral augmentation of acute symptomatic osteoporotic thoracolumbar compression fractures (version 2025)
Bolong ZHENG ; Wei MEI ; Yanzheng GAO ; Liming CHENG ; Jian CHEN ; Qixin CHEN ; Liang CHEN ; Xigao CHENG ; Jian DONG ; Jin FAN ; Shunwu FAN ; Xiangqian FANG ; Zhong FANG ; Shiqing FENG ; Haoyu FENG ; Haishan GUAN ; Yong HAI ; Baorong HE ; Lijun HE ; Yuan HE ; Hua HUI ; Weimin JIANG ; Junjie JIANG ; Dianming JIANG ; Xuewen KANG ; Hua GUO ; Jianjun LI ; Feng LI ; Li LI ; Weishi LI ; Chunde LI ; Qi LIAO ; Baoge LIU ; Xiaoguang LIU ; Xuhua LU ; Shibao LU ; Bin LIN ; Chao MA ; Xuexiao MA ; Renfu QUAN ; Limin RONG ; Honghui SUN ; Tiansheng SUN ; Yueming SONG ; Hongxun SANG ; Jun SHU ; Jiacan SU ; Jiwei TIAN ; Xinwei WANG ; Zhe WANG ; Zheng WANG ; Zhengwei XU ; Huilin YANG ; Jiancheng YANG ; Liang YAN ; Feng YAN ; Guoyong YIN ; Xuesong ZHANG ; Zhongmin ZHANG ; Jie ZHAO ; Yuhong ZENG ; Yue ZHU ; Rongqiang ZHANG
Chinese Journal of Trauma 2025;41(9):805-818
Acute symptomatic osteoporotic thoracolumbar compression fracture (ASOTLF) can lead to chronic low back pain, kyphosis deformity, pulmonary dysfunction, loss of mobility, and even life-threatening complications. Vertebral augmentation is currently the mainstream treatment method for this condition. In 2019, the Editorial Board of Chinese Journal of Trauma and the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association collaboratively led the development of Clinical guideline for vertebral augmentation for acute symptomatic osteoporotic thoracolumbar compression fractures. Six years later, with advances in clinical diagnosis and treatment techniques as well as accumulating evidence in related fields, the 2019 guideline requires updating. To this end, the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association, the Spinal Health Professional Committee of China Human Health Science and Technology Promotion Association, and the Minimally Invasive Orthopedics Professional Committee of Shaanxi Medical Doctor Association have organized experts in the field to develop the Clinical guideline for vertebral augmentation of acute symptomatic osteoporotic thoracolumbar compression fractures ( version 2025) , based on the latest evidence-based medical researches. This guideline incorporates 3 recommendations retained from the 2019 version with updated strength of evidence, along with 12 new recommendations. It provides recommendations from six aspects of diagnosis, pain management, treatment option selection, prevention of postoperative complications, anti-osteoporosis therapy, and postoperative rehabilitation, aiming to provide a reference for standard treatment of vertebral augmentation for ASOTLF in hospitals at all levels.
5.Single-nucleus transcriptomics decodes the link between aging and lumbar disc herniation.
Min WANG ; Zan HE ; Anqi WANG ; Shuhui SUN ; Jiaming LI ; Feifei LIU ; Chunde LI ; Chengxian YANG ; Jinghui LEI ; Yan YU ; Shuai MA ; Si WANG ; Weiqi ZHANG ; Zhengrong YU ; Guang-Hui LIU ; Jing QU
Protein & Cell 2025;16(8):667-684
Lumbar disc (LD) herniation and aging are prevalent conditions that can result in substantial morbidity. This study aimed to clarify the mechanisms connecting the LD aging and herniation, particularly focusing on cellular senescence and molecular alterations in the nucleus pulposus (NP). We performed a detailed analysis of NP samples from a diverse cohort, including individuals of varying ages and those with diagnosed LD herniation. Our methodology combined histological assessments with single-nucleus RNA sequencing to identify phenotypic and molecular changes related to NP aging and herniation. We discovered that cellular senescence and a decrease in nucleus pulposus progenitor cells (NPPCs) are central to both processes. Additionally, we found an age-related increase in NFAT1 expression that promotes NPPC senescence and contributes to both aging and herniation of LD. This research offers fresh insights into LD aging and its associated pathologies, potentially guiding the development of new therapeutic strategies to target the root causes of LD herniation and aging.
Intervertebral Disc Displacement/metabolism*
;
Humans
;
Aging/pathology*
;
Nucleus Pulposus/pathology*
;
Male
;
Female
;
Transcriptome
;
Middle Aged
;
Lumbar Vertebrae/pathology*
;
Adult
;
Cellular Senescence
;
Stem Cells/pathology*
;
Aged
;
Intervertebral Disc Degeneration/metabolism*
6.Primary intracranial germ cell tumors in children: a clinical retrospective analysis of 126 cases
Juanyu XU ; Yixuan HE ; Xiaoguang QIU ; Chunde LI ; Yajie WANG ; Yaxian DENG
Chinese Pediatric Emergency Medicine 2025;32(6):454-459
Objective:To summarized the clinical characteristics of intracranial germ cell tumors(iGCTs)in children, with the ultimate goal of facilitating early tumor identification and guiding the prompt selection of appropriate treatment strategies.Methods:A retrospective analysis was conducted on pediatric patients with primary iGCTs admitted to Beijing Tiantan Hospital Affiliated to Capital Medical University between March 2021 and June 2022. Patient age, gender, clinical manifestations, tumor marker levels in cerebrospinal fluid (CSF) and blood, imaging features, and histopathological examination results were meticulously collected and statistically analyzed.Results:A total of 126 pediatric patients with iGCTs were included in the study, of which 86 cases (68.3%) were male,and 40 cases (31.7%) were female.The average age was (10.0 ± 3.5) years old. The mean age of onset was found between 6~14 years old(80.1%), with a male-to-female ratio of 2.2:1.The tumors were predominantly located in the sellar region (30.2%), basal ganglia (23.8%), and pineal region (19.8%). Notably, there were distinct differences in tumor location across different age groups: pineal region tumors were most prevalent in preschool children (71.4%), basal ganglia tumors were more common in school-age children (41.9%), and sellar region involvement was highest among adolescent patients(44.8%). Based on molecular marker analysis and biopsy diagnosis, 79 cases were classified as germinoma, 3 as teratoma, 2 as yolk sac tumor, 1 as choriocarcinoma, and 41 as mixed germinoma.All children underwent head CT and MRI examinations. Among them, 99 cases showed high-density lesions on CT,while 27 cases showed mixed density,including 39 cases of calcification and 35 cases of hydrocephalus.MRI revealed atrophy of the cerebral peduncle, caudate nucleus head, or cerebral cortex in 38 cases, involvement of the basal ganglia in 33 cases, and midbrain involvement in 5 cases.Blood β-human chorionic gonadotropin (β-HCG) and alpha-fetoprotein (AFP) levels were examined in all patients, while CSF tumor marker levels were analyzed in 103 cases. There were 76 cases with elevated β-HCG in blood and/or cerebrospinal fluid, and 24 cases with elevated AFP in blood and/or CSF.Additionally, all 86 male patients underwent genital ultrasound, revealed testicular microlithiasis in 12 cases and testicular cysts in 6 cases.Conclusion:The clinical presentation of iGCTs in pediatric patients exhibits significant heterogeneity in terms of epidemiology, classification, tumor location, and molecular markers. Notably, CSF β-HCG and AFP levels are equally crucial diagnostic indicators alongside blood tumor markers.Histological examination should be performed as early as possible in clinically suspected cases with negative tumor markers. Clinicians should remain vigilant for early imaging negative potential cases. In addition, male children with testicular microlithiasis or cysts should be closely followed up.
7.Evidence-based guidelines for rehabilitation treatment after internal fixation of thoracolumbar spine fracture in adults (version 2025)
Zhengwei XU ; Liming CHENG ; Qixin CHEN ; Jian DONG ; Shunwu FAN ; Zhong FANG ; Shiqing FENG ; Haoyu FENG ; Haishan GUAN ; Weimin JIANG ; Dianming JIANG ; Yong HAI ; Lijun HE ; Yuan HE ; Bo LI ; Jianjun LI ; Feng LI ; Li LI ; Weishi LI ; Chunde LI ; Qi LIAO ; Baoge LIU ; Xiaoguang LIU ; Yong LIU ; Xuhua LU ; Shibao LU ; Bin LIN ; Wei MEI ; Chao MA ; Renfu QUAN ; Limin RONG ; Jiacan SU ; Honghui SUN ; Yuemin SONG ; Hongxun SANG ; Jun SHU ; Tiansheng SUN ; Jiwei TIAN ; Qiang WANG ; Xinwei WANG ; Zhe WANG ; Zheng WANG ; Liang YAN ; Guoyong YIN ; Jie ZHAO ; Yue ZHU ; Xiaobo ZHANG ; Xuesong ZHANG ; Zhongmin ZHANG ; Rongqiang ZHANG ; Dingjun HAO ; Yanzheng GAO ; Baorong HE
Chinese Journal of Trauma 2025;41(1):19-32
Thoracolumbar spine fracture often leads to severe pain, functional impairments, and neurological deficits, for which open reduction and internal fixation can effectively restore the spinal structural stability. Open decompression and reduction with internal fixation can help relieve spinal cord compression and improve spinal function in cases of concomitant cord injury. Although spinal stability can be restored through surgery, patients often face chronic pain and functional impairments postoperatively. A postoperative rehabilitation program is critical in optimizing therapeutic outcomes, reducing complications, and minimizing the risk of secondary injuries. However, current rehabilitation methods, such as physical therapy, functional training, and pain management, are confronted with problems in clinical practice, including significant variation in efficacy, poor patient adherence, and prolonged rehabilitation period. There is an urgent need for a unified rehabilitation strategy to address these problems. To this end, the Spinal Trauma Group of the Orthopedic Physicians Branch of the Chinese Medical Association and the Spine Health Professional Committee of the Chinese Human Health Technology Promotion Association organized experts from relevant fields to formulate Evidence-based guidelines for rehabilitation treatment after internal fixation of thoracolumbar spine fracture in adults ( version 2025) by integrating evidences from clinical researches and advanced rehabilitation concepts at home and abroad. A total number of 14 recommendations concerning the rehabilitation treatment with multimodal analgesia, psychological intervention, deep vein thrombosis prevention, core muscle and extremity exercise, appropriate use of braces, early weight-bearing, device-aided rehabilitation exercise, neuroregulatory therapy, rehabilitation team were put forward, aiming to standardize the post-operative rehabilitation process following internal fixation, promote the functional recovery, and enhance patients′ quality of life.
8.Clinical guideline for vertebral augmentation of acute symptomatic osteoporotic thoracolumbar compression fractures (version 2025)
Bolong ZHENG ; Wei MEI ; Yanzheng GAO ; Liming CHENG ; Jian CHEN ; Qixin CHEN ; Liang CHEN ; Xigao CHENG ; Jian DONG ; Jin FAN ; Shunwu FAN ; Xiangqian FANG ; Zhong FANG ; Shiqing FENG ; Haoyu FENG ; Haishan GUAN ; Yong HAI ; Baorong HE ; Lijun HE ; Yuan HE ; Hua HUI ; Weimin JIANG ; Junjie JIANG ; Dianming JIANG ; Xuewen KANG ; Hua GUO ; Jianjun LI ; Feng LI ; Li LI ; Weishi LI ; Chunde LI ; Qi LIAO ; Baoge LIU ; Xiaoguang LIU ; Xuhua LU ; Shibao LU ; Bin LIN ; Chao MA ; Xuexiao MA ; Renfu QUAN ; Limin RONG ; Honghui SUN ; Tiansheng SUN ; Yueming SONG ; Hongxun SANG ; Jun SHU ; Jiacan SU ; Jiwei TIAN ; Xinwei WANG ; Zhe WANG ; Zheng WANG ; Zhengwei XU ; Huilin YANG ; Jiancheng YANG ; Liang YAN ; Feng YAN ; Guoyong YIN ; Xuesong ZHANG ; Zhongmin ZHANG ; Jie ZHAO ; Yuhong ZENG ; Yue ZHU ; Rongqiang ZHANG
Chinese Journal of Trauma 2025;41(9):805-818
Acute symptomatic osteoporotic thoracolumbar compression fracture (ASOTLF) can lead to chronic low back pain, kyphosis deformity, pulmonary dysfunction, loss of mobility, and even life-threatening complications. Vertebral augmentation is currently the mainstream treatment method for this condition. In 2019, the Editorial Board of Chinese Journal of Trauma and the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association collaboratively led the development of Clinical guideline for vertebral augmentation for acute symptomatic osteoporotic thoracolumbar compression fractures. Six years later, with advances in clinical diagnosis and treatment techniques as well as accumulating evidence in related fields, the 2019 guideline requires updating. To this end, the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association, the Spinal Health Professional Committee of China Human Health Science and Technology Promotion Association, and the Minimally Invasive Orthopedics Professional Committee of Shaanxi Medical Doctor Association have organized experts in the field to develop the Clinical guideline for vertebral augmentation of acute symptomatic osteoporotic thoracolumbar compression fractures ( version 2025) , based on the latest evidence-based medical researches. This guideline incorporates 3 recommendations retained from the 2019 version with updated strength of evidence, along with 12 new recommendations. It provides recommendations from six aspects of diagnosis, pain management, treatment option selection, prevention of postoperative complications, anti-osteoporosis therapy, and postoperative rehabilitation, aiming to provide a reference for standard treatment of vertebral augmentation for ASOTLF in hospitals at all levels.
9.Clinical guidelines for the treatment of ankylosing spondylitis combined with lower cervical fracture in adults (version 2024)
Qingde WANG ; Yuan HE ; Bohua CHEN ; Tongwei CHU ; Jinpeng DU ; Jian DONG ; Haoyu FENG ; Shunwu FAN ; Shiqing FENG ; Yanzheng GAO ; Zhong GUAN ; Hua GUO ; Yong HAI ; Lijun HE ; Dianming JIANG ; Jianyuan JIANG ; Bin LIN ; Bin LIU ; Baoge LIU ; Chunde LI ; Fang LI ; Feng LI ; Guohua LYU ; Li LI ; Qi LIAO ; Weishi LI ; Xiaoguang LIU ; Hongjian LIU ; Yong LIU ; Zhongjun LIU ; Shibao LU ; Yong QIU ; Limin RONG ; Yong SHEN ; Huiyong SHEN ; Jun SHU ; Yueming SONG ; Tiansheng SUN ; Yan WANG ; Zhe WANG ; Zheng WANG ; Hong XIA ; Guoyong YIN ; Jinglong YAN ; Wen YUAN ; Zhaoming YE ; Jie ZHAO ; Jianguo ZHANG ; Yue ZHU ; Yingjie ZHOU ; Zhongmin ZHANG ; Wei MEI ; Dingjun HAO ; Baorong HE
Chinese Journal of Trauma 2024;40(2):97-106
Ankylosing spondylitis (AS) combined with lower cervical fracture is often categorized into unstable fracture, with a high incidence of neurological injury and a high rate of disability and morbidity. As factors such as shoulder occlusion may affect the accuracy of X-ray imaging diagnosis, it is often easily misdiagnosed at the primary diagnosis. Non-operative treatment has complications such as bone nonunion and the possibility of secondary neurological damage, while the timing, access and choice of surgical treatment are still controversial. Currently, there are no clinical practice guidelines for the treatment of AS combined with lower cervical fracture with or without dislocation. To this end, the Spinal Trauma Group of Orthopedics Branch of Chinese Medical Doctor Association organized experts to formulate Clinical guidelines for the treatment of ankylosing spondylitis combined with lower cervical fracture in adults ( version 2024) in accordance with the principles of evidence-based medicine, scientificity and practicality, in which 11 recommendations were put forward in terms of the diagnosis, imaging evaluation, typing and treatment, etc, to provide guidance for the diagnosis and treatment of AS combined with lower cervical fracture.
10.Autosomal recessive axonal neuropathy with neuromyotonia in a Tibetan family caused by HINT1 gene variation and literature review
Xifang RU ; Rong ZHAO ; Yanbin FAN ; Shuang WANG ; Yilin YE ; Beiyu XU ; Chunde LI ; Zhen HUANG ; Hui XIONG
Chinese Journal of Applied Clinical Pediatrics 2024;39(2):128-133
Objective:To summarize the characteristics of autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) caused by HINT1 gene mutation. Methods:Retrospective case summary.Clinical data of 2 Tibetan siblings diagnosed with ARAN-NM in the Department of Pediatrics of Peking University First Hospital in August 2023 were retrospectively analyzed.A review of literature reporting relevant Chinese patients was conducted.Results:The proband and her elder brother were aged 13 and 19, respectively.Both developed abnormal gait at the age of 11, followed by varus, claudication, and weak thumb strength.The proband also had neuromyotonia.Physical examinations showed that the proband and her elder brother had decreased muscle strength of the extremities, mainly in the thumbs and distal ends of lower limbs.The distal muscles of the proband′s lower extremities and the muscles of both hands of the proband′s elder brother were atrophied.Both feet showed talipes equinovarus in the proband and her elder brother.The proband′s electromyography (EMG) showed peripheral nerve injuries (motor and sensory axonal involvement, especially in distal ends) and myotonic potentials.The trio-whole exon sequencing detected homozygous pathogenic variation in HINT1 gene in both the proband and her elder brother, who were diagnosed as ARAN-NM based on c. 169A>G (p.K57E). After the Carbamazepine treatment, the proband′s neuromyotonia, numbness and weakness were relieved.Both the proband and her elder brother underwent orthopaedic surgery and rehabilitation.Their foot deformities and gait were significantly improved.Two Chinese literatures (2 patients) and four English literatures (8 patients) were retrieved.Including the proband and her elder brother in this study, there were 12 ARAN-NM patients, 10 of whom had clinical data.The ages of onset and diagnosis were 2-16 (1 case unknown) and 13-33 years old, respectively.Myasthenia was present in 9 patients, especially in distal ends.Eight patients were complicated with neuromyotonia, nine patients with muscle atrophy, seven patients with foot deformity, and two patients with sensory disturbance.Creatine kinase(CK) was elevated in all 9 patients tested or CK.EMG showed neurogenic injuries in all patients and neuromyotonia discharge in six patients.Three patients were treated with Carbamazepine, and some symptoms were relieved.Missense/nonsense mutations were found in the 12 patients, and the high-frequency variation was c. 112T>C (p.C38R). Conclusions:ARAN-NM is a rare autosomal recessive neuromuscular disease caused by HINT1 gene mutation.There is no ethnic difference in clinical manifestations, mainly distal limb weakness with neuromyotonia.Carbamazepine can alleviate some symptoms, and orthopaedic surgery can improve foot deformity and gait.

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