Virtual walking therapy in neuropathic spinal cord injury pain: a feasibility study.

STUDY DESIGN: A feasibility study. OBJECTIVES: Chronic neuropathic pain is a prevalent comorbidity in patients with spinal cord injury (SCI), and current medical treatments remain unsatisfactory. New developments as virtual walking are emerging which has been established and further developed at our centre. This study aims to investigate the feasibility of our virtual walking setup in a small group of SCI patients. SETTING: The study was conducted at the Swiss Paraplegic Centre in Nottwil, Switzerland. METHODS: Four patients aged 22 to 60 years were observed during and after therapy. Three had complete paraplegia (levels Th4-Th8) with neuropathic at- and below-level pain, while one had incomplete paraplegia (Th10) with at-level pain. The primary outcome measured was satisfaction with acceptance of and adherence to virtual walking therapy, alongside suggestions for therapy improvements. Additionally, patients kept a pain diary and pain drawings to measure the extent of pain distribution and intensity before and after therapy. Therapy schedules included either two sessions per week for five weeks or five sessions per week for two weeks. RESULTS: There was a sound satisfaction and good acceptance amongst participants. Support, duration, and number of sessions were perceived well and acceptable. Pain as a secondary outcome did not change during or after therapy in all but one patient which improved in pain intensity, pain quality as well as pain distribution. CONCLUSION: Results suggest that our virtual walking setting is a feasible tool that should be further studied in patients with SCI-related chronic neuropathic pain.

Understanding public perceptions and discussions on diseases involving chronic pain through social media: cross-sectional infodemiology study.

BACKGROUND: Chronic pain is a highly prevalent medical condition that negatively impacts quality of life and is associated with considerable functional disability. Certain diseases, such as fibromyalgia, headache, paraplegia, neuropathy, and multiple sclerosis, manifest with chronic pain. OBJECTIVE: The aim of this study is to examine the number and type of tweets (original or retweet) related to chronic pain, as well as to analyze the emotions and compare the societal impact of the diseases under study. METHODS: We investigated tweets posted between January 1, 2018, and December 31, 2022, by Twitter users in English and Spanish, as well as the generated retweets. Additionally, emotions were extracted from these tweets and their diffusion was analyzed. Furthermore, the topics most frequently discussed by users were collected. RESULTS: A total of 72,874 tweets were analyzed, including 44,467 in English and 28,407 in Spanish. Paraplegia represented 23.3% with 16,461 of the classified tweets, followed by headache and fibromyalgia with 15,337 (21.7%) and 15,179 (21.5%) tweets, respectively. Multiple sclerosis generated 14,781 tweets (21%), and the fewest tweets were related to neuropathy with 8,830 tweets (12.5%). The results showed that the primary emotions extracted were "fear" and "sadness." Additionally, the reach and impact of these tweets were investigated through the generated retweets, with those related to headaches showing the highest interest and interaction among users. CONCLUSION: Our results underscore the potential of leveraging social media for a better understanding of patients suffering from chronic pain and its impact on society. Among the most frequently encountered topics are those related to treatment, symptoms, or causes of the disease. Therefore, it is relevant to inform the patient to prevent misconceptions regarding their illness.

Risk factors and prognosis of postoperative spinal cord injury in type A aortic dissection.

OBJECTIVES: To investigate the risk factors and prognosis of spinal cord injury (SCI) after surgical procedure in type A aortic dissection (AAD). METHODS: Between January 2013 and December 2021, a total of 1647 patients with AAD underwent surgical procedure. Postoperative SCI occurred in 58 patients, including 24 patients with paraplegia and 34 patients with paraparesis. Factors associated with SCI were identified through comparison between patients with and without SCI. RESULTS: The mean age was 48.8 ± 10.8 years for patients with SCI and 50.1 ± 12.1 years for those without SCI (P = 0.43), with a comparable gender distribution. Median numbers of intercostal and lumbar arteries with involvement were significantly higher in the SCI group (both P < 0.001). The highest (P = 0.033) and lowest (P = 0.001) levels of intraoperative mean arterial pressure (MAP) were significantly lower in the SCI group. Multivariable analysis revealed the number of segmental arteries involved (odds ratio = 1.14, 95% CI 1.08-1.20, P = 0.000), and the duration of hypothermic circulatory arrest (HCA) (odds ratio = 1.04, 95% CI 1.01-1.08, P = 0.042) was positively associated with the occurrence of SCI. Conversely, the lowest level of MAP was negatively associated with SCI (odds ratio = 0.98, 95% CI 0.96-0.99, P = 0.031). During the long-term follow-up, 14 patients with paraplegia needed a wheel chair, while only 1 patient with paraparesis needed one (P < 0.001). CONCLUSIONS: The risk of postoperative SCI increases when AAD patients experience segmental arteries involved, longer HCA duration and decreased intraoperative MAP during operation.

Rehabilitation report of 2 cases of spinal cord ischemic injury after intra-aortic repair.

RATIONALE: Spinal cord ischemia injury is a serious complication after intra-aortic surgery, with a low incidence but high disability rate. However, patients often do not receive comprehensive treatment in the early stages of the disease. Therefore, active neurological intervention is needed to protect and prevent spinal cord ischemia during and after surgery. In this paper, rehabilitation program and imaging data of 2 cases with spinal cord ischemic injury are presented and discussed regarding causes, prevention and acute treatment with this disease, which could be referred by clinicians. PATIENT CONCERNS: Case report 1: A 69-year-old male patient underwent aortic arch aneurysm and thoracic endovascular aortic repair (coated stent) was performed under general anesthesia. Complete paralysis of both lower limbs, constipation, and urinary retention occurred after surgery and was subsequently referred to our rehabilitation department. Case report 2: A man aged 41 years experienced sudden chest pain with no dizziness or headache. Weakness of both lower limbs gradually appeared over 30 minutes with subsequent loss of consciousness. He was diagnosed with aortic dissection and underwent aortic stent implantation. Inpatient rehabilitation began systematically 3 months after discharge. DIAGNOSES: The 2 patients were diagnosed with paraplegia and spinal cord ischemic injury. INTERVENTIONS: The patients received strength and transfer training, sensory input, health mission, and activities of daily living. OUTCOMES: Patient 1 returned home without assistive devices and patient 2 returned home with wheelchair. LESSONS: Perioperative spinal cord protection is directly related to postoperative quality of life. Once the symptoms of spinal cord ischemic injury occur, cerebrospinal fluid drainage should be performed as soon as possible to increase mean arterial pressure. At the same time, methylprednisolone, ganglioside, anticoagulation, vasodilator drugs, and symptomatic supportive treatments are required. Intercostal artery and subclavian artery are reconstructed if necessary. Symptom stability flags referral to commence rehabilitation. Repetitive functional training is necessary to help patients return to the family and society as soon as possible.

Effect of high-intensity interval training on cardiometabolic component risks in persons with paraplegia: Results of a randomized controlled trial.

The aim of this work is to determine the effect of upper-body high intensity interval training (HIIT) on cardiometabolic risks in individuals with chronic paraplegia. Twenty-seven individuals (14 females, 13 males, mean ± SD age: 46 ± 9 years) with chronic paraplegia (spinal cord injury between T2 and L5 >1-year post-injury) took part in a randomized controlled trial and were included in the final analysis. Participants in the HIIT group (n = 18) performed ∼30 min of arm crank exercise (60 s intervals at 80%-90% peak heart rate) four times per week, for 6 weeks. Participants in the control (CON) group (n = 9) were asked to maintain their habitual diet and physical activity patterns over the study period. Outcome measures were taken at baseline and follow-up. The primary outcome measures were fasting insulin, peak power output (PPO) and peak aerobic capacity ( V ̇ O 2 peak ${{\dot{V}}_{{{{\mathrm{O}}}_{\mathrm{2}}}{\mathrm{peak}}}}$ ). Secondary outcome measures included body composition, postprandial glycaemic control, fasting blood lipids, inflammatory biomarkers and resting blood pressure. Differences between groups were assessed by ANCOVA, using baseline values as a covariate. PPO was higher in the HIIT (101 W, 97-106) compared to the CON (90 W, 83-96) group at follow-up (P = 0.006). There were no differences in fasting insulin (P = 0.415) or relative V ̇ O 2 peak ${{\dot{V}}_{{{{\mathrm{O}}}_{\mathrm{2}}}{\mathrm{peak}}}}$ (P = 0.417). Postprandial Matsuda insulin sensitivity index (ISIMatsuda) was higher in the HIIT (5.42, 4.69-6.15) compared to the CON (3.75, 2.46-5.04) group at follow-up (P = 0.036). Six weeks of upper-body HIIT increased PPO and ISIMatsuda, with no other beneficial effect on cardiometabolic component risks in persons with chronic paraplegia. HIGHLIGHTS: What is the central question of this study? What is the effect of upper-body high intensity interval training (HIIT) on cardiometabolic component risks in individuals with chronic paraplegia? What is the main finding and its importance? Six weeks of upper-body HIIT increased PPO and improved insulin sensitivity, but had no beneficial effect on other cardiometabolic component risks in persons with chronic paraplegia. The large effect size observed for insulin sensitivity may be important in terms of reducing the risk of type-2 diabetes in this population.

[Importance of neuro-urological care in patients with spinal cord injuries/diseases]. / Stellenwert der neuro-urologischen Betreuung von Patienten mit Rückenmarkverletzungen/-erkrankungen.

Integrity, control and regulation of the urinary tract are subject to a complex neuronal regulation, in which portions of the sympathetic, parasympathetic and somatic nervous system are involved. The spinal cord plays a central role in regulation and serves as a transmitter for the motor and sensory pathways. Bladder dysfunction followed by renal dysfunction was the most frequent cause of death in patients with spinal cord injuries/diseases (paraplegia) as recently as half a decade ago. Thanks mainly to diagnostic and therapeutic advances made in neuro-urology, urological problems are no longer life-limiting. A vital role is played not only by the actual function of the urinary tract but also by the complex interactions in patients living with paraplegia. Issues such undertreated hyperactivity of the detrusor muscle with autonomous dysregulation, incontinence with secondary skin changes, or insufficient hand function to perform intermittent catheterisation must be evaluated in an interdisciplinary approach. Spinal cord injury/disease implies numerous functional disorders and secondary impairments of the organism. In addition to bladder function, sexual dysfunction also plays a crucial role. Especially in younger patients who sustain paraplegia before or during the family planning phase, this disruption and limitation is an essential reason for reduced quality of life. Neurogenic intestinal function plays an additional crucial role with regard to quality of life and management of everyday life. In recent years, the range of neuro-urological topics has expanded significantly. The focus of our work shifted from being merely on the urinary tract and urodynamics. In particular, the diagnostic investigation and treatment of neurogenic intestinal dysfunction is increasingly in the hands of neuro-urologists. The complex presentation of paraplegia involves an interaction of bladder, intestinal and sexual dysfunction in a way that these influence one another. Therefore, the sustained care and re-integration of these patients essentially includes lifelong and regular neuro-urological care in a paraplegia centre. Last but not least, it is exactly these neuro-urological topics such as urinary tract infections, urinary and intestinal incontinence and faecal impaction, which most commonly lead to re-hospitalisation.

COVID-19 associated transverse myelitis: case report.

BACKGROUND: Transverse myelitis (TM) is a demyelinating inflammatory disease that presents with motor, sensory, and autonomic dysfunction, which may be acute or subacute. COVID-19-associated TM has been described in a scarce number of patients. CLINICAL CASE: A 15-year-old previously healthy male patient with respiratory disease before his neurological deterioration presented to the emergency room after developing a complete medullary syndrome located at the cervical-dorsal level, with ascending and symmetric paraparesis that rapidly progressed to paraplegia, with sensory dysfunction from the T3 level, sphincter dysfunction and sudden ventilatory deterioration that required mechanical ventilation. Magnetic resonance imaging was compatible with acute TM. Inflammatory and non-inflammatory etiologies were discarded. In addition, a positive severe acute respiratory syndrome coronavirus 2 test was obtained. Treatment included steroid pulses and plasmapheresis, with an insidious evolution. CONCLUSION: COVID-19 is an infrequent cause of TM and should be suspected when other etiologies have been ruled out.

INTRODUCCIÓN: La mielitis transversa (MT) es una enfermedad inflamatoria desmielinizante que se presenta con disfunción motora, sensitiva y autonómica, de forma aguda o subaguda. La MT asociada al COVID-19 se ha escrito en un escaso número de pacientes. CASO CLÍNICO: Se presenta el caso de un masculino de 15 años previamente sano, quien cursaba con un cuadro respiratorio y que desarrollo un deterioro neurológico súbito que involucro un síndrome medular completo localizado en el nivel cérvico dorsal, con paraparesia simétrica que progreso a la paraplejia, con disfunción sensitiva desde el nivel medular de T3, disfunción de esfínteres y deterioro ventilatorio que requirió manejo avanzado de la vía aérea. Su resonancia magnética fue compatible con mielitis transversa aguda. Se descartaron causas inflamatorias y no inflamatorias de la patología. Además, se obtuvo un resultado positivo de SARS-COV-2. Se inició tratamiento con pulsos de metilprednisolona y plasmaféresis, con una evolución insidiosa. CONCLUSIÓN: El COVID-19 es una causa infrecuente de MT y debe sospecharse cuando otras causas han sido descartadas.

Right-sided ureteral hemangiosarcoma in a paraplegic dog.

BACKGROUND: This study aims to describe a rare case of primary ureteral hemangiosarcoma, in which surgical intervention preserved the kidney and ureter after tumor removal. CASE PRESENTATION: A 13-year-old, neutered male dog, weighing 14 kg, mixed-breed, presented with apathy, anorexia, acute-onset vomiting, and abdominal discomfort during the physical examination. Ultrasonography and pyelography revealed a right-sided dilation of the renal pelvis and ureter due to complete obstruction in the middle third of the ureter. A mass obstructing the lumen of the right ureter was completely resected, and ureteral suturing was performed, preserving the integrity of the involved structures. Histopathology confirmed primary ureteral hemangiosarcoma. Due to the local and non-invasive nature of the mass, chemotherapy was not initiated. The patient's survival was approximately two years, and normal renal function was preserved throughout this period. CONCLUSIONS: Considering this type of tumor in the differential diagnosis of upper urinary tract obstructive disorders. Furthermore, the preservation of the ureter and kidney is a suitable therapeutic option after surgical resection of non-invasive tumors.

Pediatric post-dural puncture headache and paraplegia.

A cerebrospinal fluid (CSF) leak developed in a 14-year-old girl and a 12-year-old boy following a diagnostic lumbar puncture. Two days and sixteen years later, respectively, paraplegia developed due to a functional disorder. Imaging revealed an extensive extradural CSF collection in both patients and digital subtraction myelography was required to pinpoint the exact site of a ventral dural puncture hole where the lumbar spinal needle had gone "through and through" the dural sac. The CSF leak was complicated by cortical vein thrombosis in one patient. Both patients underwent uneventful surgical repair of the ventral dural puncture hole with prompt resolution of the paraplegia. Iatrogenic ventral CSF leaks may become exceptionally long standing and may be complicated by paraplegia on a functional basis both in the acute and chronic phases.

Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D.

OBJECTIVE: Krabbe disease (KD) is a multisystem neurodegenerative disorder with severe disability and premature death, mostly with an infancy/childhood onset. In rare cases of late-onset phenotypes, symptoms are often milder and difficult to diagnose. We here present a translational approach combining diagnostic and biochemical analyses of a male patient with a progressive gait disorder starting at the age of 44 years, with a final diagnosis of late-onset KD (LOKD). METHODS: Additionally to cerebral MRI, protein structural analyses of the ß-galactocerebrosidase protein (GALC) were performed. Moreover, expression, lysosomal localization, and activities of ß-glucocerebrosidase (GCase), cathepsin B (CTSB), and cathepsin D (CTSD) were analyzed in leukocytes, fibroblasts, and lysosomes of fibroblasts. RESULTS: Exome sequencing revealed biallelic likely pathogenic variants: GALC exons 11-17: 33 kb deletion; exon 4: missense variant (c.334A>G, p.Thr112Ala). We detected a reduced GALC activity in leukocytes and fibroblasts. While histological KD phenotypes were absent in fibroblasts, they showed a significantly decreased activities of GCase, CTSB, and CTSD in lysosomal fractions, while expression levels were unaffected. INTERPRETATION: The presented LOKD case underlines the age-dependent appearance of a mildly pathogenic GALC variant and its interplay with other lysosomal proteins. As GALC malfunction results in reduced ceramide levels, we assume this to be causative for the here described decrease in CTSB and CTSD activity, potentially leading to diminished GCase activity. Hence, we emphasize the importance of a functional interplay between the lysosomal enzymes GALC, CTSB, CTSD, and GCase, as well as between their substrates, and propose their conjoined contribution in KD pathology.

Tuberculous Paraplegia: Outcome of Operative Intervention.

BACKGROUND: Tuberculosis of the spine, a common manifestation of extra-pulmonary tuberculosis is characterized by vertebral destruction, paradiscal involvement, abscess collection and varying degrees of neurologic affectation. The primary disease caused by mycobacterium tuberculosis complex infects the lungs, lymph nodes of the mediastinum and gastrointestinal tract/ viscera with spinal involvement being secondary and caused by haematogenous spread. Tuberculous paraplegia arises as a complication of spinal involvement. AIM: To determine the outcome of operative intervention in tuberculous paraplegia. Methodology: This was a retrospective study involving 10 patients with tuberculous spinal involvement with varying degrees of neurological deficit as defined by both Tuli and ASIA grading. The VAS score, ESR, ASIA grade (both pre-op and post op), Tuli's grade (pre-op and post op) were used to analyze the therapeutic effects of the surgery. RESULTS: The mean pre-operative VAS score was 5.9 ±1.8, which significantly decreased to 2.2 ±1.3 six weeks post operatively. The mean pre-operative ESR and CRP was 78.9 ± 11.3mm/hr and 83 ± 13.5 respectively; which both showed a statistically significant decrease post-operatively, p<0.05. All cases achieved an increase of more than one ASIA grade post-operatively. CONCLUSION: Early surgical intervention is beneficial in patients with tuberculous spinal disease with neurologic involvement.

Effect of magnetic therapy in bladder dysfunction and quality of life in paraplegic patients.

BACKGROUND: Urinary dysfunction is linked to spinal cord injury (SCI). The quality of life (QoL) declines in both neurogenic bladder impairment and non-disordered patients. OBJECTIVE: To ascertain the effectiveness of pulsed magnetic therapy on urinary impairment and QoL in individuals with traumatic incomplete SCI. METHODS: This study included forty male paraplegic subjects with neurogenic detrusor overactivity (NDO) for more than one year following incomplete SCI between T6-T12. Their ages ranged from 20 to 35 and they engaged in therapy for three months. The subjects were divided into two groups of equal size. Individuals in Group I were managed via pulsed magnetic therapy once per week plus pelvic floor training three times a week. Individuals in Group II were managed with only three times a week for pelvic floor training. All patients were examined for bladder cystometric investigations, pelvic-floor electromyography (EMG), and SF-Qualiveen questionnaire. RESULTS: There was a noteworthy increment in individuals in Group I in volume of bladder at first desire to void and maximum cystometric capacity, detrusor pressure at Qmax, and maximum flow rate. There was a momentous increment in Group I in measures of evaluation of EMG biofeedback. There was a notable rise in Group I in SF-Qualiveen questionnaire. CONCLUSION: Magnetic stimulation should be favored as beneficial adjunct to traditional therapy in the management of bladder impairment and enhancing QoL in individuals with SCI.

Paraplegia after Pneumonectomy - A Rare Complication.

ABSTRACT: Cardiac metastases of lung cancers are common and are associated with serious complications. Locally aggressive lung tumors have the potential to extend into the left atrium via pulmonary veins, which can further complicate by embolizing into the systemic circulation. Pulmonary blastoma (PB) is one of the rare forms of primary lung malignancy and is locally aggressive. We report a rare case of 30 years old male patient who underwent left pneumonectomy for PB. During resection, the tumor was embolized into the descending thoracic aorta, leading to an acute circulatory compromise of both the lower limbs.

Unusual case of spinal cord compression revealed a double primary Hodgkin's lymphoma of the spinal cord.

Hodgkin's lymphoma revealed by a medullary compression with a double primary vertebral localisation is extremely rare. We report the case of a boy in middle childhood who was presented with slow progression of medullary compression syndrome over 9 months, ultimately leading to paraplegia with loss of sphincter tone. The spinal MRI showed two tumour processes at T9 and L1 with epidural extension. An anatomical-pathological examination of the biopsy of the tumour mass, along with immunohistochemical analysis, confirmed the diagnosis of a lymphocyte-rich classic Hodgkin's lymphoma, stage IV according to the Ann Arbor classification. The therapeutic strategy was based on chemotherapy. This study aims to report a unique clinical presentation of Hodgkin's lymphoma in a paediatric patient and underscores the diagnostic challenges encountered in such an uncommon scenario.

Relationship between brain white matter damage and grey matter atrophy in hereditary spastic paraplegia types 4 and 5.

BACKGROUND AND PURPOSE: White matter (WM) damage is the main target of hereditary spastic paraplegia (HSP), but mounting evidence indicates that genotype-specific grey matter (GM) damage is not uncommon. Our aim was to identify and compare brain GM and WM damage patterns in HSP subtypes and investigate how gene expression contributes to these patterns, and explore the relationship between GM and WM damage. METHODS: In this prospective single-centre cohort study from 2019 to 2022, HSP patients and controls underwent magnetic resonance imaging evaluations. The alterations of GM and WM patterns were compared between groups by applying a source-based morphometry approach. Spearman rank correlation was used to explore the associations between gene expression and GM atrophy patterns in HSP subtypes. Mediation analysis was conducted to investigate the interplay between GM and WM damage. RESULTS: Twenty-one spastic paraplegia type 4 (SPG4) patients (mean age 50.7 years ± 12.0 SD, 15 men), 21 spastic paraplegia type 5 (SPG5) patients (mean age 29.1 years ± 12.8 SD, 14 men) and 42 controls (sex- and age-matched) were evaluated. Compared to controls, SPG4 and SPG5 showed similar WM damage but different GM atrophy patterns. GM atrophy patterns in SPG4 and SPG5 were correlated with corresponding gene expression (ρ = 0.30, p = 0.008, ρ = 0.40, p < 0.001, respectively). Mediation analysis indicated that GM atrophy patterns were mediated by WM damage in HSP. CONCLUSIONS: Grey matter atrophy patterns were distinct between SPG4 and SPG5 and were not only secondary to WM damage but also associated with disease-related gene expression. CLINICAL TRIAL REGISTRATION NO: NCT04006418.

Experience with aortic arch inclusion technique using artificial blood vessel for type A aortic dissection: an application study.

BACKGROUND: This study aimed to elucidate the methodology and assess the efficacy of the aortic arch inclusion technique using an artificial blood vessel in managing acute type A aortic dissection (ATAAD). METHODS: We conducted a retrospective review of 18 patients (11 males and 7 females, average age: 56.2 ± 8.6 years) diagnosed with ATAAD who underwent total aortic arch replacement (TAAR) using an artificial vascular "inclusion" between June 2020 and October 2022. During the operation, deep hypothermic circulatory arrest (DHCA) and selective antegrade cerebral perfusion (ACP) of the right axillary artery were employed for brain protection. The 'inclusion' total aortic arch replacement and stented elephant trunk (SET) surgery were performed. RESULTS: Four patients underwent the Bentall procedure during the study, with one additional patient requiring coronary artery bypass grafting (CABG) due to significant involvement of the right coronary orifice. Three patients died during postoperative hospitalization. Other notable complications included two cases of postoperative renal failure necessitating continuous renal replacement therapy (CRRT), one case of postoperative double lower limb paraplegia, and one case of cerebral infarction resulting in unilateral impairment of the left upper limb. Eleven patients underwent computed tomography angiography (CTA) examinations of the aorta three months to one-year post-operation. The CTA results revealed thrombosis in the false lumen surrounding the aortic arch stent in seven patients and complete thrombosis of the false lumen around the descending aortic stent in eight patients. One patient had partial thrombosis of the false lumen around the descending aortic stent, and another patient's false lumen in the thoracic and abdominal aorta completely resolved after one year of follow-up. CONCLUSIONS: Incorporating vascular graft in aortic arch replacement simplifies the procedure and yields promising short-term outcomes. It achieves the aim of total arch replacement using a four-branch prosthetic graft. However, extensive sampling and thorough, prolonged follow-up observations are essential to fully evaluate the long-term results.

[Clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A].

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A (SPG5A). METHODS: A pedigree suspected for Hereditary spastic paraplegia (HSP) at Henan Children's Hospital on August 15 2022 was selected as the study subject. Clinical data of the pedigree was collected. Peripheral blood samples were collected from members of the pedigree. Following extraction of genomic DNA, trio-WGS was carried out, and candidate variant was verified by Sanger sequencing. RESULTS: The child, a 1-year-old boy, had presented with microcephaly, hairy face and dorsal side of distal extremities and trunk, intellectual and motor development delay, increased muscle tone of lower limbs, hyperreflexes of bilateral knee tendons, and positive pathological signs. His parents and sister both had normal phenotypes. Trio-WGS revealed that the child has harbored a homozygous c.1250G>A (p.Arg417His) variant of the CYP7B1 gene, for which his mother was heterozygous, the father and sister were of the wild type. The variant was determined to have originated from maternal uniparental disomy (UPD). The result of Sanger sequencing was in keeping with the that of trio-WGS. SPG5A due to maternal UPD of chromosome 8 was unreported previously. CONCLUSION: The child was diagnosed with SPG5A, a complex type of HSP, for which the homozygous c.1250G>A variant of the CYP7B1 gene derived from maternal UPD may be accountable.