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BMJ Neurology Open 2024Recently, there have been a few reports of atypical post-coronavirus disease 2019 (COVID-19) myelopathy manifesting tract-specific lesions similar to those due to...
INTRODUCTION
Recently, there have been a few reports of atypical post-coronavirus disease 2019 (COVID-19) myelopathy manifesting tract-specific lesions similar to those due to vitamin B deficiency. However, the precise characteristics of imaging or clinical course remain not well understood.
METHODS
A retrospective analysis of the clinical and imaging characteristics of four patients who were referred to our hospital with a unique post-COVID-19 myelopathy was performed.
RESULTS
Four-to-six weeks following COVID-19 infection in the summer of 2023, four middle-aged men developed paraparesis, hypo/dysesthesia and bladder/bowel disturbance, suggesting myelopathy. Although spinal MRI showed no abnormalities in the early stages, tract-specific longitudinal lesions along the dorsal and lateral columns became apparent as the symptoms progressed. Owing to the lack of MRI findings at the early stage, all cases were challenging to diagnose. However, the patients remained partially responsive to aggressive immunosuppressive therapies, even in the advanced stage.
DISCUSSION
We termed these tract-specific longitudinal lesions in the presented case series 'Grasshopper sign' because brain coronal and spine axial MRI findings looked like a grasshopper's antennae and face. Early identification of the characteristic MRI abnormality could allow for early intervention using intensive immunosuppressive therapy, which could improve patient outcomes.
PubMed: 38884066
DOI: 10.1136/bmjno-2024-000730 -
ENeurologicalSci Jun 2024Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of lower...
Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of lower limbs. We report a novel splicing variant (c.1617-2A>C) of the gene in a heterozygous carrier from an Italian family with autosomal dominant HSP. The case study describes a pure form of spastic paraparesis with the cardinal clinical features of SPG4. The novel variant affects a canonical splice site and is likely to disrupt RNA splicing. We conclude that the c.1617-2A>C substitution is a null variant, which could be classified as pathogenic; its penetrance should be further investigated.
PubMed: 38883204
DOI: 10.1016/j.ensci.2024.100506 -
Journal of Medical Case Reports Jun 2024Hepatic myelopathy is a very rare neurological complication of chronic liver disease. Patients habitually present with progressive pure motor spastic paraparesis. This...
BACKGROUND
Hepatic myelopathy is a very rare neurological complication of chronic liver disease. Patients habitually present with progressive pure motor spastic paraparesis. This neurological dysfunction is almost always due to cirrhosis and portocaval shunt, either surgical or spontaneous.
CASES REPORT
We report two cases of a 57-year-old man and a 37-year-old woman with progressive spastic paraparesis linked to cirrhosis and portal hypertension. The two patients are of Tunisian origin (north Africa). Magnetic resonance imaging of the spinal cord of two patients was normal, while brain magnetic resonance imaging showed a T2 hypersignals of the pallidums. These signs, in favor of hepatic encephalopathy in the two patients with cirrhosis with isolated progressive spastic paraparesis without bladder or sensory disorders, help to retain the diagnosis of hepatic myelopathy.
CONCLUSION
Hepatic myelopathy is a severe and debilitating neurological complication of chronic liver disease. The pathogenesis is misunderstood and seems to be multifactorial, including the selective neurotoxic role both of ammonia and other pathogenic neurotoxins. Usually a pathological brain magnetic resonance imaging showing a hepatic encephalopathy was documented, contrasting with a normal spinal cord magnetic resonance imaging that contributed to diagnosis of hepatic myelopathy. Conservative therapies such as ammonia-lowering measures, diet supplementation, antispastic drugs, and endovascular shunt occlusion show little benefit in improving disease symptoms. Liver transplantation performed at early stage can prevent disease progression and could probably allow for recovery.
Topics: Humans; Female; Middle Aged; Male; Hepatic Encephalopathy; Adult; Magnetic Resonance Imaging; Spinal Cord Diseases; Liver Cirrhosis; Paraparesis, Spastic; Hypertension, Portal; Chronic Disease
PubMed: 38880918
DOI: 10.1186/s13256-024-04495-2 -
BMC Urology Jun 2024Wilms tumor (WT), also known as nephroblastoma, is rare in adults, accounting for merely 3% of all nephroblastomas or 0.2 cases per million individuals. Extrarenal Wilms... (Review)
Review
BACKGROUND
Wilms tumor (WT), also known as nephroblastoma, is rare in adults, accounting for merely 3% of all nephroblastomas or 0.2 cases per million individuals. Extrarenal Wilms tumor (ERWT) emerges outside the renal boundaries and comprises 0.5 to 1% of all WT cases, with even rarer incidences in adults. Oncogenic mutations associated with ectopic nephrogenic rests (NR) may contribute to ERWT development. Diagnosis involves surgical resection and pathology examination. Due to scarce cases, adults often rely on pediatric guidelines. We thoroughly searched PubMed, Scopus, and Web of Science databases to establish our case's uniqueness. To the best of our knowledge, this is the first documented incidence of extrarenal Wilms tumor within the spinal canal in the adult population.
CASE PRESENTATION
A 22-year-old woman with a history of congenital lipo-myelomeningocele surgery as an infant presented with a 6-month history of back pain. This pain gradually resulted in limb weakness, paraparesis, and loss of bladder and bowel control. An MRI showed a 6 × 5 × 3 cm spinal canal mass at the L4-S1 level. Consequently, a laminectomy was performed at the L4-L5 level to remove the intramedullary tumor. Post-surgery histopathology and immunohistochemistry confirmed the tumor as ERWT with favorable histology without any teratomatous component.
CONCLUSION
This report underscores the rarity of extrarenal Wilms tumor (ERWT) in adults, challenging conventional assumptions about its typical age of occurrence. It emphasizes the importance of clinical awareness regarding such uncommon cases. Moreover, the co-occurrence of spinal ERWTs and a history of spinal anomalies warrants further investigation.
Topics: Humans; Wilms Tumor; Female; Spinal Canal; Young Adult; Incidence; Kidney Neoplasms; Spinal Neoplasms
PubMed: 38858693
DOI: 10.1186/s12894-024-01508-6 -
Indian Journal of Pathology &... Jun 2024HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) and adult T-cell leukemia/lymphoma (ATLL) are both severe diseases caused by Human T-lymphotropic...
BACKGROUND
HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) and adult T-cell leukemia/lymphoma (ATLL) are both severe diseases caused by Human T-lymphotropic virus type 1 (HTLV-1) infection, while about 95% of infected cases remain asymptomatic. Genes that play a role in ATLL development are assumed to be dissimilar from the ones that are crucial factors for HAM/TSP occurrence.
OBJECTIVE
The expression of six genes including BRCA1, CHUCK, ESR1, NFKBIA, PIK3R1, and PPARG were assessed in two groups of HAM/TSP and ATLL patients. Materials and Methods: cDNA was synthesized from purified RNA, and RT-qPCR was conducted to assess the expression of the genes in two groups. Any possible correlation among the genes' expression was also calculated. Results: BRCA1 and CHUCK expressions were higher in HAM/TSP patients in comparison with ATLL patients. However, ESR1, NFKBIA, PIK3R1, and PPARG are more expressed in ATLL cases than HAM/TSP. A significant positive correlation was observed between BRCA1 and NFKBIA in HAM/TSP group. In addition, a significant negative correlation between PIK3R1 and PPARG in HAM/TSP and between ESR1 and NFKBIA in the ATLL group was obtained.
CONCLUSION
HAM/TSP or ATLL stem from a disturbance in the expression of diverse genes and these dissimilarities should be discovered to reach a better understanding of disease treatment as well as screening and assessing the asymptomatic carriers' condition for developing severe disease.
PubMed: 38847220
DOI: 10.4103/ijpm.ijpm_1007_22 -
Surgical Neurology International 2024Congenital, acquired, and iatrogenic spinal epidermoid cysts (EC) are very rare.
BACKGROUND
Congenital, acquired, and iatrogenic spinal epidermoid cysts (EC) are very rare.
METHODS
A 62-year-old female patient presented with a 5-month history of progressive paraparesis leading to paraplegia secondary to a posterior compressive intradural extramedullary lesion at the T7 level. The patient underwent a laminectomy/durotomy for gross total tumor excision.
RESULTS
Histopathology confirmed the lesion was an epidermoid cyst. Although her spasticity improved within 5 weeks, she only regained partial lower extremity motion (i.e., 3/5 motor function).
CONCLUSION
Patients presenting with the acute/subacute onset of paraparesis secondary to spinal EC should undergo timely gross total cyst resections to optimize neurological outcomes.
PubMed: 38840622
DOI: 10.25259/SNI_280_2024 -
European Journal of Cardio-thoracic... Jun 2024The aim of this multicentre study was to demonstrate the safety and clinical performance of E-vita OPEN NEO Stent Graft System (Artivion, Inc.) in the treatment of... (Observational Study)
Observational Study
OBJECTIVES
The aim of this multicentre study was to demonstrate the safety and clinical performance of E-vita OPEN NEO Stent Graft System (Artivion, Inc.) in the treatment of aneurysm or dissection, both acute and chronic, in the ascending aorta, aortic arch and descending thoracic aorta.
METHODS
In this observational study of 12 centres performed in Europe and in Asia patients were enrolled between December 2020 and March 2022. All patients underwent frozen elephant trunk using E-vita OPEN NEO Stent Graft System. Primary end point was the rate of all-cause mortality at 30 days and secondary end points included further clinical and safety data are reported up to 3-6 months postoperatively.
RESULTS
A total of 100 patients (66.7% male; mean age, 57.7 years) were enrolled at 12 sites. A total of 99 patients underwent surgery using the E-vita OPEN NEO for acute or subacute type A aortic dissection (n = 37), chronic type A aortic dissection (n = 33) or thoracic aortic aneurysm (n = 29), while 1 patient did not undergo surgery. Device technical success at 24 h was achieved in 97.0%. At discharge, new disabling stroke occurred in 4.4%, while new paraplegia and new paraparesis was reported in 2.2% and 2.2%, respectively. Renal failure requiring permanent (>90 days) dialysis or hemofiltration at discharge was observed in 3.3% of patients. Between discharge and the 3-6 months visit, no patients experienced new disabling stroke, new paraplegia or new paraparesis. The 30-day mortality was 5.1% and the estimated 6-month survival rate was 91.6% (standard deviation: 2.9).
CONCLUSIONS
Total arch replacement with the E-vita OPEN NEO can be performed with excellent results in both the acute and chronic setting. This indicates that E-vita OPEN NEO can be used safely, including in the setting of acute type A aortic dissection.
Topics: Humans; Male; Female; Middle Aged; Aortic Dissection; Aortic Aneurysm, Thoracic; Aged; Blood Vessel Prosthesis Implantation; Chronic Disease; Stents; Acute Disease; Blood Vessel Prosthesis; Treatment Outcome; Aorta, Thoracic; Postoperative Complications; Europe; Adult; Endovascular Procedures
PubMed: 38830042
DOI: 10.1093/ejcts/ezae206 -
Radiology Case Reports Aug 2024Multidrug-resistant tuberculous spondylitis is a global health issue, especially in developing nations, and non-specific symptoms lead to delay in identification,...
Multidrug-resistant tuberculous spondylitis is a global health issue, especially in developing nations, and non-specific symptoms lead to delay in identification, treatment, and potential disability in children. Radiology plays a crucial role in diagnosing tuberculous spondylitis, which in turn might lead to effective treatment, prevention of disability and improved patient outcomes. Our case involved a 20-month-old malnourished child presented with paraparesis, revealing a history of contact with parental multidrug-resistant tuberculosis. Multimodality radiological examinations, including conventional radiography, CT, and MRI revealed extensive disease of the spine with disc involvement, large paravertebral abscess, and kyphotic deformity which produced neurological deficits, necessitating both anti-tuberculosis regimen and surgical intervention. Radiological examinations have a pivotal role in diagnosing, evaluating and guiding timely management of multidrug-resistant tuberculous spondylitis. Prompt diagnosis of the condition is crucial in order to prevent potentially severe complications, which contribute significantly to morbidity. Our case demonstrated the importance of radiology in diagnosing extensive spine involvement of the disease causing neurological deficits. Furthermore, radiology also helps in managing tuberculous spondylitis to prevent future disability in a child patient of a developing country. This case highlights the crucial significance of radiological imaging in the diagnosis and management of pediatric tuberculous spondylitis in impoverished nations. The patient's complex medical history highlights the socioeconomic factors contributing to tuberculosis burden. Early and comprehensive radiological assessment, together with collaboration between radiologists and clinicians, is vital for timely intervention and improved outcomes in pediatric tuberculous spondylitis cases to prevent the impact of this debilitating disease on children.
PubMed: 38812598
DOI: 10.1016/j.radcr.2024.04.001 -
Cancers May 2024Intramedullary melanocytomas are exceedingly rare, with only twenty-four cases reported up to now. They present as local invasive tumors despite their benign biological... (Review)
Review
BACKGROUND
Intramedullary melanocytomas are exceedingly rare, with only twenty-four cases reported up to now. They present as local invasive tumors despite their benign biological behavior. Attempting a complete safe resection often results in severe post-operative neurological deficits, as in our case presented here.
METHODS
A systematic review was conducted across the PubMed and Scopus databases including studies published till February 2024.
RESULTS
A total of 19 studies were included, encompassing 24 cases. A similar distribution between sexes was noted (M:F 13:11), with ages ranging from 19 to 79 years. The thoracic segment was most affected, and intermediate-grade melanocytoma (19 cases) was the most common histotype. Radiographically, intramedullary melanocytomas usually appear as hyperintense hemorrhagic lesions peripheral to the central canal with focal nodular enhancement. Intraoperatively, they are black-reddish to tan and are tenaciously adherent lesions. In the sampled studies, IONM employment was uncommon, and post-operative new-onset neurological deficits were described in 16 cases. Adjuvant RT was used in four cases and its value is debatable. Recurrence is common (10 cases), and adjuvant therapies (RT or repeated surgery) seem to play a palliative role.
CASE PRESENTATION
A 68-year-old woman presented with a three-year history of worsening spastic paraparesis and loss of independence in daily activities (McCormick grade 4). An MRI revealed an intramedullary tumor from Th5 to Th7, characterized by T1-weighted hyperintensity and signs of recent intralesional hemorrhage. Multimodal neuromonitoring, comprising the D-Wave, guided the resection of a black-tan-colored tumor with hyper-vascularization and strong adherence to the white matter. During final dissection of the lesion to obtain gross total resection (GTR), a steep decline in MEPs and D-Wave signals was recorded. Post-operatively, the patient had severe hypoesthesia with Th9 level and segmental motor deficits, with some improvement during neurorehabilitation. Histopathology revealed an intermediate-grade melanocytoma (CNS WHO 2021 classification). A four-month follow-up documented the absence of relapse.
CONCLUSIONS
This literature review highlights that intramedullary T1 hyperintense hemorrhagic thoracic lesions in an adult patient should raise the suspicion of intramedullary melanocytoma. They present as locally aggressive tumors, due to local invasiveness, which often lead to post-operative neurological deficits, and frequent relapses, which overwhelm therapeutic strategies leading to palliative care after several years.
PubMed: 38791946
DOI: 10.3390/cancers16101867 -
The Egyptian Heart Journal : (EHJ) :... May 2024Cardiac myxomas present a diagnostic challenge due to their ability to mimic various cardiovascular and systemic conditions. Timely identification is crucial for...
BACKGROUND
Cardiac myxomas present a diagnostic challenge due to their ability to mimic various cardiovascular and systemic conditions. Timely identification is crucial for implementing surgical intervention and averting life-threatening complications.
CASE PRESENTATION
We reported the case of a 49-year-old male patient who presented sudden legs weakness and slurred speech and was admitted 10 h later in emergency department. Physical examination was significant for paraparesis and paraphasia. Cardiac and carotid auscultation was normal. CT brain revealed multiple acute ischemic strokes and MRA was suggestive of cerebral vasculitis. As pre-therapy assessment, the EKG revealed no electrical abnormalities and the chest X-ray showed signs of left atrial enlargement. Transthoracic and transesophageal echocardiography showed a left atrial mass attached to the interatrial septum, measuring 9*5*4 cm and extending into the left ventricular cavity during diastole, which suggested the diagnosis of left atrial myxoma. The patient was referred for open-heart surgery and histopathological examination confirmed the diagnosis of myxoma. The patient weaned off from cardiopulmonary bypass and the postoperative period was uneventful.
CONCLUSION
We reported an interesting case with an unusual and misleading neurological presentation of a cardiac myxoma. The unpredictability of serious complications occurrence must awaken our medical flair, for an early diagnosis among a long list of differentials.
PubMed: 38782794
DOI: 10.1186/s43044-024-00488-0