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NMC Case Report Journal 2023We herein describe three patients with thoracic disk herniation (TDH) that presented with acute myelopathy at the Tokyo Metropolitan Neurological Hospital between 2014...
We herein describe three patients with thoracic disk herniation (TDH) that presented with acute myelopathy at the Tokyo Metropolitan Neurological Hospital between 2014 and 2021 (age range, 45-76 years; male/female ratio = 1:2), with a focus on the mechanisms underlying their development. All patients had sudden-onset gait disturbance due to acute nontraumatic paraparesis. The specialties of the doctors at the first hospital were neurology and orthopedic surgery. TDH was overlooked at the first hospital, and the patients were referred to our hospital. The TDH in all cases was of the central type; however, since they were small, no spinal stenosis was observed. The key feature of all three cases is the small anterior deformation of the spinal cord, making a vascular etiology for the symptoms more plausible than a compressive etiology. After a follow-up of several months or years, two out of three patients underwent surgery with the use of the transfacet pedicle-sparing approach due to residual symptoms. Intraoperative ultrasonography showed that the spinal cord was anchored to TDH by the dural attachment of dentate ligaments. The physical relationship between the dentate ligaments and TDH may be associated with the vascular cause of the symptoms of small TDH.
PubMed: 38125930
DOI: 10.2176/jns-nmc.2023-0110 -
Revista de Neurologia Sep 2023KIF1A-associated-neurological-disorder (KAND) encephalopathy is a group of progressive neurodegenerative pathologies of varying severity caused by mutations in the KIF1A...
INTRODUCTION
KIF1A-associated-neurological-disorder (KAND) encephalopathy is a group of progressive neurodegenerative pathologies of varying severity caused by mutations in the KIF1A gene (Kinesin family member 1A) located on chromosome 2q37.3. This gene encodes a protein of the kinesin-3 family that participates in the ATP-dependent anterograde transport of presynaptic vesicles through neuronal microtubules.
CASE REPORT
Four patients are described, aged 1-13 years, with a median onset of symptoms of 5 months (IQR 0-11 months), which represents an approximate prevalence of 1 per 64,000 children under 14 years of age for our pediatric population. Clinically, intellectual disability (ID), axial hypotonia and spastic paraparesis stood out in 4/4 and cerebellar symptoms in 2/4. Other manifestations were urinary incontinence, sensory-motor polyneuropathy, and behavioral alteration. In case 2, the alteration in the video-EEG stands out, which showed focal epilepsy with secondary generalization and right posterior occipito-parietal paroxysmal focality with contralateral transmission. She also showed instantaneous pluricotidian supraversion oculogyric seizures without EEG correlates.
CONCLUSIONS
In our series, KAND encephalopathy had a predominant neurodegenerative disorder phenotype with global developmental delay, gait delay, and progressive spasticity of the lower limbs, cerebellar atrophy, and/or involvement of the visual cortex, which in one case was associated with sensory-motor polyneuropathy. The de novo missense mutation was more frequent and in three cases it is the first known description. One case showed focal epilepsy and nonepileptic oculogyric seizures.
Topics: Child; Female; Humans; Brain Diseases; Epilepsies, Partial; Genotype; Kinesins; Phenotype; Seizures; Infant; Child, Preschool; Adolescent
PubMed: 37668235
DOI: 10.33588/rn.7706.2023185 -
Cureus Aug 2023Electrical injuries are relatively common types of mechanical trauma associated with significant morbidity and mortality. These injuries occur most commonly in adult men...
Electrical injuries are relatively common types of mechanical trauma associated with significant morbidity and mortality. These injuries occur most commonly in adult men and account for approximately 3-7% of admissions to burn units. The type and amount of current, voltage, tissue resistance, and duration of current flow all influence the extent of injury and the patient outcome. A broad spectrum of central nervous system (CNS) and peripheral nervous systems (PNS) disorders caused by electrocution have been described in the literature. Here, we present a rare case of a 45-year-old man, electrocuted with a 240 V low-voltage alternating current (AC), four years prior to presentation, who has been admitted to our neurology clinic with a positive Lhermitte sign, paraparesis, proximal muscle pain, and distal paresthesia of the lower limbs, symptoms that had appeared one year after the electrocution. Magnetic resonance imaging (MRI) of the brain and spinal cord revealed multiple demyelinating lesions involving pons, juxtacortical and periventricular regions of the brain, and cervical and upper thoracic spinal cord. Given that other etiologies of demyelinating diseases of the CNS were excluded, we have interpreted this case and all accompanying pathologic findings as a consequence of electrical injury. Although the general epidemiologic reports regarding age, sex, type of current, circumstances, and site of electrocution correspond to the data of our reported case, this patient presents a delayed, rare neurologic complication with a nonspecific MRI pattern that we did not find in the literature. These patients should be carefully monitored not only during the acute phase but also over a longer period, because, as reported in this case, neurological complications may occur later after electrocution.
PubMed: 37746499
DOI: 10.7759/cureus.43951 -
Pathogenic Mutation Presenting with Pure, Apparently Non-Progressive Hereditary Spastic Paraparesis.Annals of Indian Academy of Neurology 2023
PubMed: 38229641
DOI: 10.4103/aian.aian_707_23 -
Neurology. Genetics Jun 2024To report novel biallelic variants in a family presenting with pure hereditary spastic paraparesis.
OBJECTIVES
To report novel biallelic variants in a family presenting with pure hereditary spastic paraparesis.
METHODS
Two affected sisters presented with unsolved hereditary spastic paraparesis and underwent clinical and imaging assessments. This was followed by short-read next-generation sequencing.
RESULTS
Analysis of next-generation sequencing data uncovered compound heterozygous variants in (NM_058004.4: c.[3883C>A];[5785A>C]; p.[(His1295Asn);(Thr1929Pro)]. Using ACMG guidelines, both variants were classified as likely pathogenic.
DISCUSSION
Here, next-generation sequencing revealed 2 novel compound heterozygous variants in the phosphatidylinositol 4-kinase alpha gene () in 2 sisters presenting with progressive pure hereditary spastic paraparesis. Pathogenic variants in have previously been associated with a spectrum of disorders including autosomal recessive perisylvian polymicrogyria, with cerebellar hypoplasia, arthrogryposis, and pure spastic paraplegia. The cases presented in this study expand the phenotypic spectrum associated with variants and contribute new likely pathogenic variants for testing in patients with otherwise unsolved hereditary spastic paraparesis.
PubMed: 38685974
DOI: 10.1212/NXG.0000000000200152 -
Cureus Aug 2023Spinal epidural hematomas (SEHs)are space-occupying lesions that exert pressure on the spinal cord by rapidly accumulating blood between the dura and bone or ligament...
Spinal epidural hematomas (SEHs)are space-occupying lesions that exert pressure on the spinal cord by rapidly accumulating blood between the dura and bone or ligament components. The annual incidence of spontaneous epidural hematoma is estimated to be one in one million. The predominant symptoms are back pain or neurological impairment, including sensory, motor, or autonomic dysfunction of the limbs below the hematoma level. Depending on the level and size of the hematoma and the affected cord, they cause neurological deficits. Neurological deficits are often reversible if diagnosed and treated early with surgical decompression. However, neurological deficits can become permanent if the patient is not operated on timely, and paraplegia or quadriplegia may occur. A 53-year-old man presented to our emergency department with acute-onset back pain and 36-hour-long, rapidly progressive paraparesis of both legs. On T1- and T2-weighted MRI scans, a hyperacute SEH was found as iso/hyperintense and hyperintense, respectively. Immediate decompressive laminectomy from T10 to L2 and hematoma evacuation were performed. It was challenging to remove the hematoma due to its firm consistency. Before performing a bilateral total laminectomy at five levels, the posterior spine was stabilized between T10 and L3 using transpedicular screws. Within 24 hours, the motor function of the lower limbs increased considerably. The patient could sit on a chair because of posterior stability. In addition to the importance of early diagnosis using imaging techniques, planning the extension of SEH surgery is crucial for the patient's postoperative neurological recovery.
PubMed: 37641725
DOI: 10.7759/cureus.44192 -
Journal of Pediatric Genetics Mar 2024Spondyloenchondrodysplasia (SPENCD) is a rare spondylometaphyseal skeletal dysplasia with characteristic lesions mimicking enchondromatosis and resulting in short...
Spondyloenchondrodysplasia (SPENCD) is a rare spondylometaphyseal skeletal dysplasia with characteristic lesions mimicking enchondromatosis and resulting in short stature. A large spectrum of immunologic abnormalities may be seen in SPENCD, including immune deficiencies and autoimmune disorders. SPENCD is caused by loss of tartrate-resistant acid phosphatase activity, due to homozygous mutations in , playing a role in nonnucleic-acid-related stimulation/regulation of the type I interferon pathway. In this article, we presented a 19-year-old boy with SPENCD, presenting with recurrent autoimmune hemolytic anemia episodes since he was 5 years old. He had short stature, platyspondyly, metaphyseal changes, intracranial calcification, spastic paraparesis, and mild intellectual disability. He also had recurrent pneumonia attacks. The clinical diagnosis of SPENCD was confirmed by sequencing of the gene, and a homozygous c.155A > C (p.K52T) variation was found, which was reported before as pathogenic. In conclusion, in early onset chronic autoimmune cytopenias an immune dysregulation may often have a role in the etiology. Associating findings and immunologic functions should be carefully evaluated in such patients in the light of the literature. The present case shows the importance of multisystemic evaluation for the detection of SPENCD that has a monogenic etiology.
PubMed: 38567175
DOI: 10.1055/s-0041-1736560 -
Virology Journal Jan 2024The human T-lymphotropic virus type 1 (HTLV-1) infects millions of people globally and is endemic to various resource-limited regions. Infections persist for life and...
The human T-lymphotropic virus type 1 (HTLV-1) infects millions of people globally and is endemic to various resource-limited regions. Infections persist for life and are associated with increased susceptibility to opportunistic infections and severe diseases including adult T cell leukemia/lymphoma and HTLV-1-associated myelopathy-tropical spastic paraparesis. No HTLV-1-specific anti-retrovirals have been developed and it is unclear whether existing anti-retrovirals developed for treatment of human immunodeficiency virus (HIV) have efficacy against HTLV-1. To understand the structural basis for therapeutic binding, homology modelling and machine learning were used to develop a structural model of the HTLV-1 reverse transcriptase. With this, molecular docking experiments using a panel of FDA-approved inhibitors of viral reverse transcriptases to assess their capacity for binding, and in turn, inhibition. Importantly, nucleoside/nucleotide reverse transcriptase inhibitor but not non-nucleoside reverse transcriptase inhibitors were predicted to bind the HTLV-1 reverse transcriptase, with similar affinity to HIV-1 reverse transcriptase. By strengthening the rationale for clinical testing of therapies such as tenofovir alafenamide, zidovudine, lamivudine, and azvudine for treatment of HTLV-1, this study has demonstrated the power of in silico structural biology approaches in drug design and therapeutic testing.
Topics: Adult; Humans; Human T-lymphotropic virus 1; Nucleotides; Reverse Transcriptase Inhibitors; Molecular Docking Simulation; Paraparesis, Tropical Spastic
PubMed: 38200531
DOI: 10.1186/s12985-024-02288-z -
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 -
Annals of Cardiac Anaesthesia Jan 2024Paraparesis following cardiac surgery is a manifestation of spinal cord injury (SCI). It can occur in any aortic surgery from the aneurysm to the coarctation of the...
Paraparesis following cardiac surgery is a manifestation of spinal cord injury (SCI). It can occur in any aortic surgery from the aneurysm to the coarctation of the aorta (CoA) where the cross-clamp of the aorta is applied. Though the incidence of paraplegia is low, its occurrence affects the morbidity and mortality of the patient. There are only sporadic case reports on the development of paraplegia following recurrent and technically challenging repair of CoA. However, the spontaneous development of paraplegia has also been reported in cases of unoperated CoA. The present report describes the case of delayed SCI in which paraparesis developed 5 days post a coarctation repair. The risk factors and strategies to protect the spinal cord during aortic surgeries are emphasized.
Topics: Humans; Aortic Coarctation; Paraparesis; Postoperative Complications; Male; Spinal Cord Injuries
PubMed: 38722130
DOI: 10.4103/aca.aca_98_23