Progressive Limb Research Articles

2-[18F] FDG PET/CT in Rapid Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn metabolic myopathy affecting fat and protein metabolism. Patients with late-onset MADD typically present with exercise intolerance and muscle weakness. We present a patient with an acute, very late-onset symptom debut at 52 years of age. Over 5 months, the patient deteriorated from asymptomatic to almost complete loss of ambulation. He had a substantial weight loss, head-drop, progressive proximal limb and chewing weakness. Due to the rapid progression, amyotrophic lateral sclerosis, myositis, myasthenia gravis and a paraneoplastic syndrome in relation to underlying malignancy were considered first. A 2-[18F] FDG PET/CT scan was performed to exclude a paraneoplastic syndrome. The scan revealed diffuse and symmetric, pathologically high 2-[18F] FDG-uptake in the patient's neck, shoulder, and paravertebral muscles, which was later suggested as a sign of a metabolic myopathy. Muscle biopsy (Oil Red O staining) and acylcarnitine profile (elevated C5-C18 acylcarnitines) findings suggested MADD, which was confirmed by genetic analysis showing biallelic variants in the ETFDH gene (c.1763A>G, p.(His588Arg); c.897G>A, p.(Leu299=)). After 1 month of dietary intervention and daily diet supplements (riboflavin 400 mg TID, levocarnitine 1 g TID, Q10 150 mg qD in two doses), the patient had almost recovered to his habitual level. A posttreatment muscle biopsy showed less disrupted ultrastructure of the myofibers. We learned from this case of rapid and late-onset MADD that 2-[18F] FDG PET/CT, with diffuse and symmetric 2-[18F] FDG-uptake in skeletal muscle, can be valuable in clarifying this rare diagnosis.

Autopsy-proven patient with corticobasal degeneration presenting with visuo-constructive disorders as initial symptoms: How advanced MRI sequences can help clinical practice.

Cortico-basal degeneration (CBD) is a neurodegenerative disease typically responsible for cortico-basal syndrome (CBS) or progressive limb apraxia. Half of CBD patients, however, present atypical symptoms, making the diagnosis difficult. We reported the case of a woman in her late sixties (BM208), an unusual case of autopsy-proven CBD, showing early signs of Benson's syndrome or posterior cortical atrophy. In addition, we compared cognitive performance and atrophy in different brain regions of BM208 with other neurodegenerative diseases patients to highlight clinical signs that could have guided the diagnosis earlier. We retrospectively compared BM208 to patients with typical amnestic Alzheimer's disease (AD) (n = 18, Mini-Mental State Exam (MMSE) scores between 18 and 24), Benson's syndrome due to AD (n = 3), CBS/progressive supranuclear palsy (PSP) syndrome (n = 5), and Lewy body dementia (LBD) patients (n = 3) and a control group (n = 24). All these participants underwent an MMSE, a complete neuropsychological examination and 3DT1 MRI. Although BM208 was more severely cognitively impaired overall, her cognitive performance was more similar to Benson's syndrome patients' cognitive profile compared to CBS patients or any other degenerative pathology (typical AD/LBD). Consistently, although BM208 was more atrophic than all other groups, she showed cortical atrophy that matched a Benson's syndrome pattern more than typical AD or CBS. However, the analysis of subcortical atrophy revealed atrophy of the basal ganglia corresponding CBS cases. Furthermore, visual analyses on sagittal T1 images showed atrophy of the midbrain, characteristic of CBS/PSP syndrome. These results highlight the additive value of fine-grained MRI subcortical quantification to diagnose non-AD rare neurodegenerative disorders.

A Multidimensional Regression Model for Predicting Recurrence in Chronic Low Back Pain.

A Multidimensional Regression Model for Predicting Recurrence in Chronic Low Back Pain.

Primary spinal extradural hydatid cyst: a rare cause of compressive neuropathy in a pediatric patient

Primary spinal extradural hydatid cyst: a rare cause of compressive neuropathy in a pediatric patient

Bone Metastasis Disease from Mucinous Carcinoma of the Breast

Background: Mucinous carcinoma of the breast (MCB) is a rare histological subtype of invasive breast cancer, comprising 1-7% of all breast carcinomas. It is generally associated with a favorable prognosis due to its indolent course and low metastatic potential. However, distant metastases, including to the bone, are exceptionally rare and pose diagnostic and therapeutic challenges. Case Presentation: We present a case of a 64-year-old woman with a history of MCB who developed progressive back pain and lower limb weakness. MRI showed multiple osteolytic lesions with spinal cord compression. A CT-guided biopsy confirmed metastatic mucinous carcinoma, and immunohistochemical (IHC) staining demonstrated GATA3 positivity, confirming breast origin. The patient received denosumab, aromatase inhibitors, and palliative radiotherapy. Conclusion: This case highlights the importance of considering bone metastases in patients with a history of MCB presenting with skeletal-related events. IHC, particularly GATA3, is crucial in confirming the metastatic origin and guiding targeted treatment strategies.

Decoding imagined movement in people with multiple sclerosis for brain–computer interface translation

Objective.Multiple sclerosis (MS) is a heterogeneous autoimmune-mediated disorder affecting the central nervous system, commonly manifesting as fatigue and progressive limb impairment. This can significantly impact quality of life due to weakness or paralysis in the upper and lower limbs. A brain-computer interface (BCI) aims to restore quality of life through control of an external device, such as a wheelchair. However, the limited BCI research in people with MS has been confined to exploring the P300 response and brain signals associated with attempted movement. The current study aims to expand the MS-BCI literature by highlighting the feasibility of decoding MS imagined movement.Approach.We collected electroencephalography data from eight participants with various symptoms of MS and ten neurotypical control participants. Participants made imagined movements of the hands and feet as directed by a go no-go protocol. Binary regularised linear discriminant analysis was used to classify imagined movement vs. rest and vs. movement at individual time-frequency points. The frequency bands which provided the maximal accuracy, and the associated latency, were compared.Main Results.In all MS participants, the classification algorithm achieved above 70% accuracy in at least one imagined movement vs. rest classification and most movement vs. movement classifications. There was no significant difference between classification of limbs with weakness or paralysis to neurotypical controls. Both the MS and control groups possessed decodable information within the alpha (7-13 Hz) and beta (16-30 Hz) bands at similar latency.Significance.This study is the first to demonstrate the feasibility of decoding imagined movements in people with MS. As an alternative to the P300 response, motor imagery-based control of a BCI may also be combined with existing motor imagery therapy to supplement MS rehabilitation. These promising results merit further long term BCI studies to investigate the effect of MS progression on classification performance.

Progressive limb hardening in a young woman.

We report the case of a 31-year-old woman with a 6-month history of progressive swelling and hardening in all four limbs. A thorough assessment, including clinical findings, laboratory tests, imaging studies and histopathological examination, resulted in an accurate diagnosis.

Congenital spinal intramedullary epidermoid cyst

Spinal epidermoid cysts are rare benign tumors, accounting for <1% of all spinal tumors, with intramedullary cases being particularly uncommon. We present a rare case of a congenital intramedullary epidermoid cyst in a 12-year-old male, who presented with progressive bilateral lower limb weakness and gait disturbance over five months. Magnetic resonance imaging revealed a well-defined intramedullary lesion at the D6-D8 level, exhibiting hypointensity on T1-weighted images, hyperintensity on T2-weighted images, diffusion restriction on diffusion-weighted images, and peripheral rim-like enhancement on post-contrast imaging, suggestive of an epidermoid cyst. Surgical resection was performed, and histopathological analysis confirmed the presence of lamellated keratinous material, consistent with an epidermoid cyst. This case is notable for the absence of associated spinal dysraphism, making it a rare presentation. Imaging features, including characteristic signal patterns and diffusion restriction, aided in the diagnosis, distinguishing it from other intramedullary lesions such as arachnoid cysts, dermoid tumors, and neoplasms.

A case of neuromyelitis optica spectrum disorder complicated with aquaporin-4-antibody-associated organizing pneumonia.

An 80-year-old man with aquaporin-4-antibody-positive neuromyelitis optica spectrum disorder presented with a 2-week history of cough and hiccups, followed by progressive bilateral lower limb weakness, a bandlike burning sensation in the upper body, and urinary retention. Magnetic resonance imaging showed area postrema and thoracic central medullary lesions. Thorax computed tomography showed bilateral upper lung lobe consolidations. Lung biopsy confirmed organizing pneumonia. Immunohistochemistry of these lesions demonstrated aquaporin-4 loss, immunoglobulin G-binding, and complement deposits, akin to central nervous system lesions found in neuromyelitis optica spectrum disorder. Thus, aquaporin-4-antibodies may be involved in extra-central nervous system manifestations of neuromyelitis optica spectrum disorder.

Open Distal Venous Arterialization Technique as an Opportunity for Patients With Critical Limb Ischemia: A Latin American Experience.

Chronic limb-threatening ischemia (CLTI) leads to decreased quality of life and increased disease burden, resulting in progressive patient deterioration, limb amputation, and mortality. This study aims to present the outcomes of a Latin American experience using the open distal venous arterialization (DVA) technique for no-option limb salvage in a high volume CLTI center. A retrospective case series study was performed including patients from 2018 to 2022 using a population from Bogotá, Colombia. Patients with no-option chronic limb-threatening ischemia underwent open DVA with a 12month follow-up period. Variables such as operative time, hospital and ICU length of stay, graft material, re-interventions, 1-year patency, amputations and 1-year mortality were recorded. 5 patients with a mean age of 71years were intervened. 60% were male and 80% had a diabetes mellitus diagnosis. Four patients underwent a reverse great saphenous vein graft procedure and 1 composite polytetrafluoroethylene graft. A total of 80% of patients demonstrated graft patency after 1year. No perioperative mortalities were recorded but one late postoperative mortality due to myocardial infarction occurred. One major amputation was required, minor amputations were performed in 2 of the patients. Open DVA is a feasible low cost technique for adequately selected patients with favorable saphenous vein, as evidenced by the limb salvage and graft patency outcomes.

A giant spinal schwannoma at the C1-C2 level: A case report

Rationale: Giant spinal schwannomas located at the C1-C2 level pose significant surgical challenges because of their proximity to the brainstem, cervical spinal cord, and vertebral arteries. This case provides insight into the surgical management of giant spinal schwannomas at the C1-C2 level. Patient Concerns: A 40-year-old female presented with a 2-year history of progressive limb numbness, weakness, and gait instability. She reported a sensation of stepping on cotton and tightness in the chest and abdomen with worsening symptoms over time. Diagnoses: Physical examination revealed limited cervical spine movement, increased muscle tone in the limbs, and Hoffmann and Babinski signs. Imaging, including CT, CTA and MRI, identified a large schwannoma at the C1-C2 level, with compression of the spinal cord and proximity to the vertebral artery. Interventions: The patient underwent surgical excision of the tumor using full laminectomy approach under intravenous anesthesia. Outcomes: The surgery was successfully completed, and the patient’s neurological symptoms, including numbness and weakness, were significantly relieved. Conclusion: Strict enucleation within the capsule can effectively protect the vertebral artery and nearby nerves. When functional nerve roots or the spinal cord are involved, leaving the residual capsule may be safer than risking permanent deficits.

Drug-Induced Cauda Equina Syndrome in an 8-Year-Old Boy With Acute Lymphoblastic Leukemia: An Uncommon Case Report.

Intrathecal methotrexate can cause cauda equina syndrome in pediatric ALL patients, as demonstrated in this rare case of an 8-year-old boy. Symptoms included progressive limb weakness and urinary retention. Early recognition, prompt discontinuation of the offending agent, and multidisciplinary management are crucial. Vigilant neurological monitoring is essential for pediatric acute lymphoblastic leukemia patients receiving intrathecal chemotherapy.

Sparganosis of the Cauda Equina: A Rare Case of Lower Thoracic Cord Edema and Diagnostic Challenges

AbstractSparganosis is a rare parasitic infection caused by the larvae of Spirometra species, with spinal involvement being exceedingly uncommon. We present the case of a 46-year-old woman with progressive lower limb weakness, sensory deficits, and bowel and bladder dysfunction over a 3-month period. Initial magnetic resonance imaging revealed an abnormal intradural lesion from L2 to S2, along with thoracic spinal cord edema, raising suspicion for a spinal dural arteriovenous fistula (DAVF). After referral to our institution, further imaging ruled out DAVF, and findings suggested arachnoiditis and radiculitis of the lumbosacral nerve roots. The patient underwent a laminectomy, revealing inflamed arachnoid membranes and diffuse yellowish-whitish granulation tissue adherent to the cauda equina, which histopathological analysis confirmed as sparganosis. Postoperatively, the patient showed improved motor strength, although bowel and bladder dysfunction persisted. This case highlights the diagnostic challenges of spinal sparganosis, the need for early surgical intervention, and the importance of considering parasitic infections in endemic regions.

Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series.

Autosomal-dominant variants in the CPT1C gene have been associated with hereditary spastic paraplegia type 73 (SPG73), which typically presents with slowly progressive lower limb weakness and spasticity and is therefore considered a pure form of hereditary spastic paraplegia. However, we report two unrelated males with novel CPT1C variants (NM_001199753.2: patient 1: c.2057_2061del (p.Ile686SerfsTer8) and patient 2: c.2020-1G>C (p.?)) who presented with lower limb spasticity at 4 and 3 years old, respectively. Both patients also experienced significant cognitive impairment, seizures, or neurobehavioral symptoms. These cases illustrate a broader and more complex clinical spectrum of SPG73, extending beyond the traditionally recognized pure motor symptoms.

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST. Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder. We describe 5 patients with pure HSP with a variable age of onset, mostly in infancy, and 4 patients with profound intellectual disability and progressively worsening tetrapyramidal syndrome. The patients' parents, heterozygous carriers of pathogenic SPAST variants, included both asymptomatic carriers and patients with classic forms of SPG4. Biallelic variants of SPAST may explain cases of hereditary spastic paraplegia with autosomal recessive inheritance. Furthermore, some biallelic variants may also cause psychomotor regression with an infantile neurodegenerative disorder, associated with a tetrapyramidal syndrome, a new phenotype associated with the SPAST gene.

Over-supplement of vitamin D may cause delirium, abdominal distension, and muscle weakness in the elderly: A case report and literature review.

Vitamin D deficiency is common among the elderly due to limited sunlight exposure, increasing osteoporosis risk. Over-supplementation poses risks, especially with caregiver involvement. Rising vitamin D overdose cases underscore the need for better education on safe intake and monitoring practices to prevent toxicity, particularly hypercalcemia from excessive doses. This case report details the clinical presentation and management of a woman who exhibited progressive lower limb weakness, delirium, and abdominal distension over a 3-day period. Initial assessments ruled out intracranial hemorrhage but revealed significant electrolyte imbalances, including hyponatremia, hypokalemia, hypomagnesemia, and severe hypercalcemia. Upon further inquiry, it was discovered that the patient had consumed an excessive amount of liquid Vitamin D3 over the preceding 3 weeks, surpassing the threshold for vitamin D intoxication. Intravenous fluid hydration was initiated to promote calcium excretion. Bisphosphonates and calcitonin were administered to reduce serum calcium levels. Electrolyte imbalances, including hyponatremia, hypokalemia, and hypomagnesemia, were corrected. Continuous monitoring and supportive care were provided in the geriatric ward. After these treatments, the patient's electrolyte levels stabilized, and her symptoms, such as confusion and muscle weakness, gradually improved, leading to a full recovery. This case underscores the importance of recognizing hypercalcemia, particularly in the elderly, where symptoms may manifest nonspecifically. Additionally, it highlights the potential risks associated with medication errors and inadvertent overdoses, particularly in situations involving elderly spousal caregivers.

Chronic progressive left hind limb lameness in an 11-month-old intact female Labrador Retriever Poodle cross.

Chronic progressive left hind limb lameness in an 11-month-old intact female Labrador Retriever Poodle cross.

Case 336

History A 10-month-old female infant, who was second-born, was referred for progressive macrocephaly, axial hypotonia, developmental delay, and limb stiffness. Birth had occurred at 41 weeks, after an uneventful pregnancy and delivery, to nonconsanguineous parents. Noticeably, the child could not hold her head up at 4 months or sit at 10 months of age. Her vocalizations were modulated to express contentment or anger, without developmentally appropriate babbling. Neurologic examination revealed poor visual contact, progressive macrocephaly, substantial axial hypotonia, and limb stiffness with brisk osteotendinous reflexes, suggestive of spastic diplegia. No swallowing difficulties or seizures were reported, and long-term electroencephalographic monitoring revealed no abnormalities. The patient underwent 3-T MRI (Siemens Healthineers) of the brain, including morphologic sequences and spectroscopy ( Figs 1 – 4 ), under general anesthesia with and without gadolinium-based contrast media administration (Dotarem; Guerbet).

Spinal epidural abscess

Introduction. A spinal epidural abscess (SEA) is a rare but serious infectious disease characterized by the accumulation of pus in the spinal epidural space. This condition can lead to compression of the spinal cord and nerve roots, which, if diagnosis is delayed or mistaken, may result in persistent neurological deficits or even death. In recent decades, the incidence of SEA has been increasing, linked to an aging population, the spread of invasive medical procedures, and the rise of risk factors such as diabetes, obesity, and intravenous drug use. Diagnosing SEA is challenging due to its nonspecific symptoms; however, clinical awareness, along with early use of magnetic resonance imaging (MRI), enables timely detection and treatment. Clinical case description. A 55-year-old patient presented with complaints of weakness in all limbs and neck pain. The patient’s history began approximately four months earlier with a sore throat, followed by progressive limb weakness. MRI and CT imaging revealed an SEA at the C4-C5 level, causing spinal cord compression. The patient underwent C4 and C5 corpectomy, abscess removal and drainage, and stabilization with a cervical plate and autograft. In the postoperative period, the patient showed significant improvement; by discharge, the neurological deficit had substantially regressed. Conclusion. This review highlights the need to increase SEA awareness among healthcare professionals to facilitate early diagnosis and treatment initiation, particularly in high-risk patients. Despite advancements in treatment, mortality and neurological complications remain significant, underscoring the need for further research to optimize treatment strategies and improve outcomes for patients with SEA.

A Man with Rapidly Progressive Limb Gangrene

Antiphospholipid syndrome (APS) and polyarteritis nodosa (PAN) are two distinct, but potentially overlapping, autoimmune disorders that are characterized by vascular morbidities. We present a case of probable APS that manifested as rapidly progressive peripheral gangrene with a positive test for lupus anticoagulant (LAC), alongside with angiographic evidence of suspected renal and hepatic artery aneurysms commonly associated with PAN, but also the presence of diffuse thrombosis over the distal arterial branches in the four limbs. Through this case, we aim to review the overlapping features and potential interplay between APS and PAN, highlighting the necessary considerations for optimizing management to salvage the ongoing limb ischemia.