CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.
Humans ; Child ; Female ; Cerebellar Ataxia/diagnosis* ; Talipes Cavus ; Hearing Loss, Sensorineural/diagnosis* ; Optic Atrophy/diagnosis* ; Mutation ; Phenotype ; Sodium-Potassium-Exchanging ATPase/genetics* ; Foot Deformities, Congenital ; Reflex, Abnormal

OBJECTIVE: To study the anatomical characteristics of blood vessels in the lateral segment of the vertebral body through the surgical approach of oblique lumbar interbody fusion (OLIF) using MRI imaging, and evaluate its potential vascular safety zone. METHODS: The lumbar MRI data of 107 patients with low back and leg pain who met the selection criteria between October 2019 and November 2022 were retrospectively analyzed. The vascular emanation angles, vascular travel angles, and the length of vessels in the lateral segments of the left vertebral body of L ₁-L ₅, as well as the distance between the segmental vessels in different Moro junctions of the vertebral body and their distances from the edges of the vertebrae in the same sequence (bottom marked as I, top as S) were measured. The gap between the large abdominal vessels and the lateral vessels of the vertebral body was set as the lateral vascular safe zones of the lumbar spine, and the extent of the safe zones (namely the area between the vessels) was measured. The anterior 1/3 of the lumbar intervertebral disc was taken as the simulated puncture center, and the area with a diameter of 22 mm around it as the simulated channel area. The proportion of vessels in the channel was further counted. In addition, the proportions of segmental vessels at L ₅ without a clear travel and with an emanation angel less than 90° were calculated. RESULTS: Except for the differences in the vascular emanation angles between L ₄ and L ₅, the vascular travel angles between L ₁, L ₂ and L ₄, L ₅, and the length of vessels in the lateral segments of the vertebral body among L ₁-L ₄ were not significant ( P>0.05), the differences in the vascular emanation angles, vascular travel angles, and the length of vessels between the rest segments were all significant ( P<0.05). There was no significant difference in the distance between vessels of L ₁, L ₂ and L ₂, L ₃ at Moro Ⅰ-Ⅳ junctions ( P>0.05), in L ₃, L ₄ and L ₄, L ₅ at Ⅱ and Ⅲ junction ( P>0.05). There was no significant difference in the vascular distance of L ₂, L ₃ between Ⅱ, Ⅲ junction and Ⅲ, Ⅳ junction, and the vascular distance of L ₃, L ₄ between Ⅰ, Ⅱ junction and Ⅲ, Ⅳ junction ( P>0.05). The vascular distance of the other adjacent vertebral bodies was significant different between different Moro junctions ( P<0.05). Except that there was no significant difference in the distance between L ₂I and L ₃S at Ⅰ, Ⅱ junction, L ₃I and L ₄S at Ⅱ, Ⅲ junction, and L ₂I and L ₃S at Ⅲ, Ⅳ junction ( P>0.05), there was significant difference of the vascular distance between the bottom of one segment and the top of the next in the other segments ( P<0.05). Comparison between junctions: Except for the L ₃S between Ⅰ, Ⅱ junction and Ⅱ, Ⅲ junction, and L ₅S between Ⅰ, Ⅱ junction and Ⅱ, Ⅲ and Ⅲ, Ⅳ junctions had no significant difference ( P>0.05), there were significant differences in the distance between the other segmental vessels and the vertebral edge of the same sequence in different Moro junctions ( P<0.05). The overall proportion of vessels in the simulated channels was 40.19% (43/107), and the proportion of vessels in L ₁ (41.12%, 44/107) and L ₅ (18.69%, 20/107) was higher than that in the other segments. The proportion of vessels in the channel of Moro zone Ⅰ (46.73%, 50/107) and zone Ⅱ (32.71%, 35/107) was higher than that in the zone Ⅲ, while no segmental vessels in L ₁ and L ₂ were found in the channel of zone Ⅲ ( χ ²=74.950, P<0.001). Moreover, 26.17% (28/107) of the segmental vessels of lateral L ₅ showed no movement, and 27.10% (29/107) vascular emanation angles of lateral L ₅ were less than 90°. CONCLUSION L ₁ and L ₅ segmental vessels are most likely to be injured in Moro zones Ⅰ and Ⅱ, and the placement of OLIF channels in L _{4, 5} at Ⅲ, Ⅳ junction should be avoided. It is usually safe to place fixation pins at the vertebral body edge on the cephalic side of the intervertebral space, but it is safer to place them on the caudal side in L _{1, 2} (Ⅰ, Ⅱ junction), L _{3, 4} (Ⅲ, Ⅳ junction), and L _{4, 5} (Ⅱ, Ⅲ, Ⅳ junctions).
Humans ; Retrospective Studies ; Spinal Puncture ; Magnetic Resonance Imaging ; Anticoagulants ; Bone Nails

OBJECTIVE: To study the clinical manifestations and treatment of intervertebral space infection after percutaneous lumbar radiofrequency ablation of nucleus pulposus. METHODS: A retrospective analysis was performed of 496 patients who underwent percutaneous lumbar disc decompression using low-temperature plasma radiofrequency ablation nucleus pulposus from June 2009 to June 2019. Six patients had lumbar infection, and the infection rate was 1.21%. All patients were male, ranging in age from 20 to 61 years old. Three patients underwent single segment radiofrequency ablation, two patients underwent dual segments ablation;and one patient underwent three segment ablation, totaling 10 intervertebral discs. One patient was complicated with type 2 diabetes before operation. The interval between infection occurrence ranged from 21 to 65 days. RESULTS: All 6 patients were followed up, and the duration ranged from 18 to 40 months, with an average of 24 months. Among them, 2 patients presented with symptoms of low back pain accompanied by fever, and imaging examination showed intervertebral space infection accompanied by abscess. In addition, 4 patients experienced low back pain but no fever, and MRI showed abnormal signals of the infected intervertebral endplate or vertebral body. One patient showed staphylococcus aureus in blood culture, while the remaining 5 patients showed negative bacterial culture. All the patients were treated with antibiotics after diagnosis. Four patients were treated with conservative management to control infection;1 patient was treated with debridement of posterior lumbar infection focus, and 1 patient was treated with debridement of posterior lumbar infection focus combined with interbody fusion and internal fixation. CONCLUSION The occurrence of intervertebral space infection during lumbar radiofrequency ablation nucleoplasty should be given sufficient attention. Strict aseptic technique, avoiding repeated multi segment puncture, realizing early detection and treatment, and selecting appropriate treatment methods according to the severity of infection is the guarantee of achieving curative effect.
Humans ; Male ; Young Adult ; Adult ; Middle Aged ; Female ; Low Back Pain ; Nucleus Pulposus ; Diabetes Mellitus, Type 2 ; Retrospective Studies ; Spinal Puncture

Headaches are a common presentation in the emergency department (ED). Even though not all are potentially serious, some such as subarachnoid hemorrhage (SAH) can be more dangerous than others. SAH is a medical emergency with an almost 50% mortality rate. It is crucial not to miss the diagnosis of SAH, as a missed or delayed diagnosis can be severely detrimental. It classically presents as thunderclap headache, a severe, sudden-onset headache. There are various approaches in diagnosing or excluding SAH, which is classically done by performing a computed tomography (CT) scan followed by a lumbar puncture (LP). But with the improved sensitivity of more modern diagnostic tools, more physicians are in support of changing this classical teaching. The aim of this case report is to review the advantages and disadvantages of LP in diagnosing SAH, along with other diagnostic tools commonly used.
Subarachnoid Hemorrhage ; Spinal Puncture ; Cerebrospinal Fluid

OBJECTIVE: To explore the clinical efficacy of percutaneous vertebroplasty(PVP) combined with nerve block in the treatment of lumbar osteoporotic vertebral compression fractures under the guidance of traditional chinese medicine "theory of equal emphasis on muscle and bone". METHODS: Total of 115 patients with lumbar osteoporotic vertebral compression fractures were treated by percutaneous vertebroplasty from January 2015 to March 2022, including 51 males and 64 females, aged 25 to 86 (60.5±15.9) years. Among them, 48 cases were treated with PVP operation combined with erector spinae block and joint block of the injured vertebral articular eminence (intervention group), and 67 cases were treated with conventional PVP operation (control group). The visual analogue scale(VAS) and Oswestry disability index(ODI) before operation, 3 days, 1 month and 6 months after operation between two groups were evaluated. The operation time, number of punctures and intraoperative bleeding between two groups were compared. RESULTS: The VAS and ODI scores of both groups improved significantly after operation compared with those before operation(P<0.05). Moreover, the VAS and ODI scores of 3 days and 1 month after operation of the intervention group improved more significantly than that of the control group(P<0.05). The difference of VAS and ODI scores before operation and 6 months after operation between two groups had no statistical significances(P>0.05). There was no statistically significant difference in the number of punctures and intraoperative bleeding between the two groups (P>0.05). CONCLUSION Based on the theory of "equal emphasis on muscles and bones", PVP combined with nerve block can effectively relieve paravertebral soft tissue spasm and other "muscle injuries", which can significantly improve short-term postoperative low back pain and lumbar spine mobility compared to conventional PVP treatment, and accelerate postoperative recovery, resulting in satisfactory clinical outcomes.
Male ; Female ; Humans ; Fractures, Compression/surgery* ; Vertebroplasty/methods* ; Spinal Fractures/surgery* ; Spinal Puncture ; Lumbar Vertebrae/injuries* ; Muscles ; Treatment Outcome ; Osteoporotic Fractures/surgery* ; Retrospective Studies ; Bone Cements

OBJECTIVE: To investigate the effects of different bone cement morphology distribution on the clinical efficacy of unilateral percutaneous vertebroplasty(PVP) for spinal osteoporotic fractures. METHODS: The clinical data of 66 patients with osteoporotic vertebral compression fractures received unilateral PVP treatment from January 2019 to April 2020 were retrospectively analyzed. There were 16 males and 50 females, including 83 vertebral bodies, 45 thoracic vertebrae and 38 lumbar vertebrae, and 55 patients with single-segment, 6 double-segment, 4 three-segment and 1 four-segment. The age ranged from 60 to 93 years with an average of (76.83±8.65) years. The included patients were admitted to hospital 1 to 10 days after onset, and were diagnosed by anteroposterior and lateral X-rays, MRI and bone density examination before surgery. According to the shape of bone cement in postoperative X-ray, the patients were divided into O-shaped group (28 cases) and H-shaped group (38 cases). In O-shaped group, the bone cement presented agglomeration mass distribution in the affected vertebra in postoperative X-ray while the bone cement presented disseminated honeycomb distribution in the affected vertebrae in H-shaped group. Bone cement injection volume was collected in two groups. The intraoperative bone cement leakage and postoperative adjacent vertebral fractures were observed. The VAS of the two groups before operation and 1 day, 1 month, 6 months and 1 year after operation were compared;and ODI of the two groups 1 day, 6 months and 1 year after operation were compared. The kyphosis angle and anterior height of the affected vertebrae were measured before operation and 1 week, 1 year after operation. RESULTS: All 66 patients completed 1-year follow-up, and all patients healed well at the puncture site after surgery. There were 1 case and 8 cases of bone cement leakage in O-shaped group and H-shaped group during surgery respectively (P<0.05), but no serious complications occurred. One case occurred adjacent vertebral fracture in both groups during one-year follow-up (P>0.05). There was no statistical significance in injection amount of bone cement between the two groups (P>0.05). The VAS scores of O-shaped group and H-shaped group were 7.89±0.79, 2.75±1.08, 0.46±0.58, 0.36±0.49 and 8.00±1.04, 2.58±1.15, 0.53±0.56, 0.42±0.50 before operation, 1 day, 6 months, 1 year after operation respectively, and there was no statistical significance(P>0.05), and the VAS scores were 0.96±0.58 and 1.18±0.83 at 1 month after operation respectively, with statistical significance(P<0.05). The ODI scores of O-shaped group and H-shaped group were 12.43±3.78, 10.00±2.46, 8.43±1.50 and 12.11±3.68, 9.53±2.35, 8.32±1.51 at 1 day, 6 months and 1 year after surgery respectively, and there was no statistical significance between the two groups(P>0.05). There were no statistical significance in kyphotic angles and anterior height before surgery and 1 week, 1 year after surgery between two groups (P>0.05). CONCLUSION No matter the distribution of bone cement is O-shape or H-shape, it can achieve good clinical effect, and the prognosis effect is equivalent. Therefore, when performing unilateral puncture PVP surgery, it is not necessary to deliberately increase the puncture angle of the puncture needle in order to achieve the full diffusion of the affected vertebrae, so as to reduce the risk of damaging important structures and bone cement leakage.
Aged ; Aged, 80 and over ; Bone Cements/therapeutic use* ; Female ; Fractures, Compression/surgery* ; Humans ; Kyphosis ; Male ; Middle Aged ; Osteoporotic Fractures/surgery* ; Retrospective Studies ; Spinal Fractures/surgery* ; Spinal Puncture ; Treatment Outcome ; Vertebroplasty

Drug-refractory epilepsy (DRE) may be treated by surgical intervention. Intracranial EEG has been widely used to localize the epileptogenic zone (EZ). Most studies of epileptic network focus on the features of EZ nodes, such as centrality and degrees. It is difficult to apply those features to the treatment of individual patients. In this study, we proposed a spatial neighbor expansion approach for EZ localization based on a neural computational model and epileptic network reconstruction. The virtual resection method was also used to validate the effectiveness of our approach. The electrocorticography (ECoG) data from 11 patients with DRE were analyzed in this study. Both interictal data and surgical resection regions were used. The results showed that the rate of consistency between the localized regions and the surgical resections in patients with good outcomes was higher than that in patients with poor outcomes. The average deviation distance of the localized region for patients with good outcomes and poor outcomes were 15 mm and 36 mm, respectively. Outcome prediction showed that the patients with poor outcomes could be improved when the brain regions localized by the proposed approach were treated. This study provides a quantitative analysis tool for patient-specific measures for potential surgical treatment of epilepsy.
Humans ; Epilepsy/surgery* ; Brain/surgery* ; Electrocorticography/methods* ; Drug Resistant Epilepsy/surgery* ; Brain Mapping/methods* ; Electroencephalography/methods*

Transcranial direct current stimulation (tDCS) has become a new method of post-stroke rehabilitation treatment and is gradually accepted by people. However, the neurophysiological mechanism of tDCS in the treatment of stroke still needs further study. In this study, we recruited 30 stroke patients with damage to the left side of the brain and randomly divided them into a real tDCS group (15 cases) and a sham tDCS group (15 cases). The resting EEG signals of the two groups of subjects before and after stimulation were collected, then the difference of power spectral density was analyzed and compared in the band of delta, theta, alpha and beta, and the delta/alpha power ratio (DAR) was calculated. The results showed that after real tDCS, delta band energy decreased significantly in the left temporal lobes, and the difference was statistically significant ( P < 0.05); alpha band energy enhanced significantly in the occipital lobes, and the difference was statistically significant ( P < 0.05); the difference of theta and beta band energy was not statistically significant in the whole brain region ( P > 0.05). Furthermore, the difference of delta, theta, alpha and beta band energy was not statistically significant after sham tDCS ( P > 0.05). On the other hand, the DAR value of stroke patients decreased significantly after real tDCS, and the difference was statistically significant ( P < 0.05), and there was no significant difference in sham tDCS ( P > 0.05). This study reveals to a certain extent the neurophysiological mechanism of tDCS in the treatment of stroke.
Brain/physiopathology* ; Brain Waves/physiology* ; Electroencephalography/methods* ; Humans ; Stroke/therapy* ; Stroke Rehabilitation/methods* ; Transcranial Direct Current Stimulation/methods*

PURPOSE: We report an unusual case of Leber hereditary optic neuropathy presenting with optic disc hyperfluorescence. CASE SUMMARY: A 17-year-old male with sequential painless visual loss 3 weeks apart affecting first the left and then the right eye presented to our neuro-ophthalmology clinic. His best-corrected visual acuity was counting fingers in the right eye and 0.32 in the left eye. Fundus examination showed mild optic disc edema and hyperemia in both eyes, which were worse in the right eye. Fluorescein angiography revealed dye leakage from the right optic disc in the late phase. The results of magnetic resonance imaging of the brain and spinal cord were normal, and lumbar puncture study was unremarkable. Mitochondrial DNA sequencing revealed a pathognomonic 11778 mutation for Leber hereditary optic neuropathy. His vision deteriorated to 0.03 in both eyes 6 months later, but slowly started to improve 11 months after onset. At 2 years, his corrected visual acuity was 0.2 in both eyes. CONCLUSIONS: To our knowledge, this is the first report of optic disc hyperfluorescence in Leber hereditary optic neuropathy. This finding suggests that this mitochondrial optic neuropathy can masquerade as optic neuritis.
Adolescent ; Brain ; DNA, Mitochondrial ; Edema ; Fingers ; Fluorescein Angiography ; Humans ; Hyperemia ; Magnetic Resonance Imaging ; Male ; Optic Atrophy ; Optic Atrophy, Hereditary, Leber ; Optic Nerve Diseases ; Optic Neuritis ; Spinal Cord ; Spinal Puncture ; Visual Acuity

OBJECTIVE: This study was conducted to identify the characteristics of early infants with urinary tract infection (UTI) who visited the pediatric emergency department (PED) and to investigate the characteristics of patients with cerebrospinal fluid (CSF) pleocytosis and incidence of bacterial meningitis. METHODS: We retrospectively reviewed the records of UTI infants aged 31 to 90 days presenting at PED whom had lumbar puncture. From September 1, 2014 to August 31, 2017, a total of 225 infants were enrolled. RESULTS: Twenty three patients had CSF pleocytosis. Of these, two patients were positive for CSF enteroviral polymerase chain reaction, while none were positive for bacterial culture. We compared the characteristics of infants with CSF pleocystosis. There were not diffences in sex, vaccination before fever, general condition, peak body temperature, peripheral white blood cell, C-reactive protein, and procalcitonin between two groups. However, in patients with prematurity history, incidence of CSF pleocytosis was high. Four infants hot bacteremia, and organism of these patients was all Escherichia coli. All of them had negative CSF culture and normal CSF findings. CONCLUSION: No febrile early infants with UTI had bacterial meningitis. As a result, we must not do conventional test of CSF in patients with UTI.
Bacteremia ; Body Temperature ; C-Reactive Protein ; Cerebrospinal Fluid ; Emergencies ; Emergency Service, Hospital ; Escherichia coli ; Fever ; Humans ; Incidence ; Infant ; Leukocytes ; Leukocytosis ; Meningitis ; Meningitis, Bacterial ; Polymerase Chain Reaction ; Retrospective Studies ; Spinal Puncture ; Urinary Tract Infections ; Urinary Tract ; Vaccination