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Cureus Mar 2024Guillain-Barré syndrome (GBS) is an acute inflammatory polyradiculoneuropathy involving the peripheral nervous system. Autonomic dysfunctions are well-known...
Guillain-Barré syndrome (GBS) is an acute inflammatory polyradiculoneuropathy involving the peripheral nervous system. Autonomic dysfunctions are well-known complications of GBS and are major contributors to mortality. Autonomic dysfunctions are classically described during the acute phase of illness. In the literature, Horner syndrome as a manifestation of GBS has been reported in very few cases. Here, we describe a case of GBS with an acute presentation of flaccid paraparesis associated with unilateral Horner syndrome. Detecting the cause of acute flaccid paraparesis with unilateral Horner syndrome poses a diagnostic challenge, making it crucial for clinicians to maintain a heightened awareness for distinguishing between GBS and its variants, as well as other potential mimics.
PubMed: 38681326
DOI: 10.7759/cureus.57188 -
Genes Mar 2024The adaptor protein 4 (AP-4) constitutes a conserved hetero-tetrameric complex within the family of adaptor protein (AP) complex, crucial for the signal-mediated... (Review)
Review
The adaptor protein 4 (AP-4) constitutes a conserved hetero-tetrameric complex within the family of adaptor protein (AP) complex, crucial for the signal-mediated trafficking of integral membrane proteins. Mutations affecting all subunits of the AP-4 complex have been linked to autosomal-recessive cerebral palsy and a complex hereditary spastic paraparesis (HSP) phenotype. Our report details the case of a 14-year-old boy born to consanguineous parents, presenting psychomotor delay, severe intellectual disability, microcephaly, and trigonocephaly. Despite a history of febrile seizures, subsequent years were devoid of seizures, with normal EEG. Exome sequencing revealed pathogenic variants in both the and genes. Significantly, the patient exhibited features associated with mutations, including distinctive traits such as cranial malformations. The gene variant, linked to craniosynostosis, likely contributes to the observed trigonocephaly. This case represents the initial documentation of a concurrent mutation in the and genes, underscoring the critical role of exome analysis in unraveling complex phenotypes. Understanding these complex genotypes offers valuable insights into broader syndromic conditions, facilitating comprehensive patient management.
Topics: Humans; Male; Adolescent; Phenotype; Mutation; Peptide Termination Factors; Adaptor Protein Complex 4; Intellectual Disability; Exome Sequencing; Microcephaly; Craniosynostoses; Repressor Proteins
PubMed: 38674371
DOI: 10.3390/genes15040436 -
Veterinary Sciences Apr 2024A 13-month-old, neutered, male, domestic shorthair cat was referred with a history of progressive paraparesis, proprioceptive ataxia, and lumbar spinal pain....
A 13-month-old, neutered, male, domestic shorthair cat was referred with a history of progressive paraparesis, proprioceptive ataxia, and lumbar spinal pain. Neurological examination revealed non-ambulatory paraparesis consistent with L4-S1 myelopathy. Magnetic resonance of the thoracolumbar spinal cord identified a dorsal intradural extramedullary space-occupying lesion extending from L5 to L6. It was homogeneously hyperintense in T2-weighted imaging and isointense in T1-weighted imaging and exhibited marked and homogeneous contrast enhancement in the T1-weighted post-contrast imaging. The removed tissue was composed of neoplastic cells arranged as pseudostratified or multilayered trabecular and tubular structures, supported by internal and external limiting PAS-positive membranes. The neoplastic cells were immunoreactive for vimentin and NSE and negative for GFAP, Olig2, synaptophysin, PCK, S-100, NeuN, and nestin. The Ki-67 nuclear labeling index was up to 90%. The tumor was consistent with the diagnosis of medulloepithelioma, which is most frequently reported as an intraocular tumor. The morphological and immunohistochemical features of the tumor showed remarkable concordance with most human medulloepitheliomas. This is the first spinal cord medullopethelioma report in a cat, with the clinical, neuroradiological, histological, and immunohistochemical findings being described.
PubMed: 38668444
DOI: 10.3390/vetsci11040177 -
Pathogens (Basel, Switzerland) Mar 2024The transient depletion of monocytes alone prior to exposure of macaques to HTLV-1 enhances both HTLV-1 (wild type) and HTLV-1 (Orf-1 knockout) infectivity, but...
The transient depletion of monocytes alone prior to exposure of macaques to HTLV-1 enhances both HTLV-1 (wild type) and HTLV-1 (Orf-1 knockout) infectivity, but seroconversion to either virus is not sustained over time, suggesting a progressive decrease in virus expression. These results raise the hypotheses that either HTLV-1 persistence depends on a monocyte reservoir or monocyte depletion provides a transient immune evasion benefit. To test these hypotheses, we simultaneously depleted NK cells, CD8 T cells, and monocytes (triple depletion) prior to exposure to HTLV-1 or HTLV-1. Remarkably, triple depletion resulted in exacerbation of infection by both viruses and complete rescue of HTLV-1 infectivity. Following triple depletion, we observed rapid and sustained seroconversion, high titers of antibodies against HTLV-1 p24Gag, and frequent detection of viral DNA in the blood and tissues of all animals when compared with depletion of only CD8 and NK cells, or monocytes alone. The infection of macaques with HTLV-1 or HTLV-1 was associated with higher plasma levels of IL-10 after 21 weeks, while IL-6, IFN-γ, IL-18, and IL-1β were only elevated in animals infected with HTLV-1. The repeat depletion of monocytes, NK, and CD8 cells seven months following the first exposure to HTLV-1 did not further exacerbate viral replication. These results underscore the contribution of monocytes in orchestrating anti-viral immunity. Indeed, the absence of expression was fully compensated by the simultaneous depletion of CD8 T cells, NK cells, and monocytes, underlining the primary role of in hijacking host immunity.
PubMed: 38668247
DOI: 10.3390/pathogens13040292 -
NMC Case Report Journal 2024Capillary hemangiomas are benign tumors comprising a lobulated proliferation of capillary vessels frequently located in the soft tissues of the neck and head. Spinal...
Capillary hemangiomas are benign tumors comprising a lobulated proliferation of capillary vessels frequently located in the soft tissues of the neck and head. Spinal intradural capillary hemangiomas are rare, particularly intramedullary lesions. To our knowledge, only 31 cases of spinal intramedullary capillary hemangiomas have been reported. Here, we describe a rare case of a thoracic capillary hemangioma comprising extramedullary and intramedullary components. A 51-year-old male patient presented with bilateral lower extremity numbness and subsequent paraparesis, sensory disturbance, and bladder-bowel dysfunction with a subacute clinical course. Magnetic resonance imaging revealed a mass lesion with intramedullary and intradural extramedullary components at the Th9-10 vertebrae level and widespread spinal cord edema. Contrast-enhanced computed tomography revealed abnormal vessels on the dorsal spinal cord surface. Spinal angiography revealed a light-stained mass lesion fed by the radiculopial artery from the right Th11 intercostal artery. The tumor was resected en bloc, and the histological diagnosis was a capillary hemangioma. Postoperatively, the spinal cord edema diminished, and the patient was discharged from the convalescent rehabilitation ward. Although intramedullary capillary hemangioma is a rare spinal tumor and its preoperative diagnosis is difficult, it should be considered in the differential diagnosis of spinal intramedullary tumors.
PubMed: 38666032
DOI: 10.2176/jns-nmc.2023-0205 -
Spinal Cord Series and Cases Apr 2024Acute transverse myelitis (ATM) is a rare neurological complication of Coronavirus disease (COVID-19) vaccines. Various vaccines have been linked to ATM, such as...
INTRODUCTION
Acute transverse myelitis (ATM) is a rare neurological complication of Coronavirus disease (COVID-19) vaccines. Various vaccines have been linked to ATM, such as non-replicating viral vectors, ribonucleic acid, and inactivated vaccines. An ATM case is presented here involving the BNT162b2 vaccine leading to asymmetrical incomplete paraplegia and neurogenic bladder.
CASE PRESENTATION
A 66-year-old male developed urinary retention one day after his second dose of the BNT162b2 vaccine, followed by rapidly progressing lower limb weakness. Clinical examination showed asymmetrical paraparesis, reduced sensation below the T8 level, including perianal sensation, and loss of ankle and anal reflexes. Laboratory tests were largely unremarkable, while the spine MRI revealed thickened conus medullaris with a mild increase in T2/STIR signal intensity and subtle enhancement post gadolinium. Following treatment with methylprednisolone, plasmapheresis, and immunoglobulin, and a rehabilitation program, the patient achieved good motor and sensory recovery, but the bladder dysfunction persisted. Single-channel cystometry indicated neurogenic detrusor underactivity and reduced bladder sensation, as evidenced by low-pressure and compliant bladder. The urethral sphincter appeared intact or overactive. The post-void residual urine was significant, necessitating prolonged intermittent catheterisation.
DISCUSSION
Bladder dysfunction due to the COVID-19 vaccine-associated ATM is not as commonly reported as motor or sensory deficits. To our knowledge, this is the first case to highlight a neurogenic bladder that necessitates prolonged intermittent catheterisation as a consequence of COVID-19 vaccine-associated ATM. This report highlights the rare complication of the neurogenic bladder resulting from the BNT162b2 vaccine. Early detection and treatment are crucial to prevent long-term complications.
Topics: Humans; Male; Myelitis, Transverse; Aged; Urinary Bladder, Neurogenic; BNT162 Vaccine; COVID-19 Vaccines; COVID-19
PubMed: 38664389
DOI: 10.1038/s41394-024-00642-5 -
Journal of Neurovirology Apr 2024Human T-lymphotropic virus type 1 (HTLV-1) is classically associated with the HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), although the...
Human T-lymphotropic virus type 1 (HTLV-1) is classically associated with the HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), although the mechanisms of this neurological disorder remain unclear. In addition, some patients who develop "minor" neurological signs that do not meet diagnostic criteria for HAM/TSP are classified as asymptomatic carriers. This study aims to demonstrate the neurological symptoms of Brazilian patients living with HTLV-1 classified as not-HAM.TSP. This observational study evaluated patients treated in an HTLV reference center in Bahia, Brazil, between February 2022 and July 2023. The data were obtained through the analysis of medical records and neurological consultation. Those individuals classified as HAM/ TSP were excluded from this study. 74 patients were submitted to a careful neurological evaluation: 23 HAM/TSP, 22 were classified with intermediate syndrome (IS), and 29 were oligosymptomatic. Self-reported symptoms were significantly more common in the IS group, including urinary symptoms such as nocturia, urgency, incontinence, dysuria, weakness, paresthesia, lumbar pain, xerostomia, and xerophthalmia. Physical examination findings consistent with reduced vibratory and tactile sensitivity were more common in the IS group (p = 0.017 and p = 0.013). Alterations in the V and VIII cranial nerves were present in both groups. HTLV-1 can lead to the development of important neurological signs and symptoms in apparently asymptomatic individuals. This data highlights the need for more research into the neurological aspects of HTLV-1 infection and emphasizes the importance of early diagnosis, treatment, and support for individuals living with this virus.
PubMed: 38653958
DOI: 10.1007/s13365-024-01197-9 -
Neurosurgery Apr 2024Spinal dural arteriovenous fistulas (SDAVFs) lead to progressive neurological decline with symptoms such as paraparesis, bowel and bladder dysfunction, and sensory...
BACKGROUND AND OBJECTIVES
Spinal dural arteriovenous fistulas (SDAVFs) lead to progressive neurological decline with symptoms such as paraparesis, bowel and bladder dysfunction, and sensory disturbances because of impaired spinal cord venous drainage. This study aimed to systematically review the literature on multiple synchronous SDAVFs and present 2 cases from our institution.
METHODS
A comprehensive search was performed to identify all published cases of multiple synchronous SDAVFs. Overall, 23 patients with multiple synchronous SDAVFs were identified, including 21 from 19 articles and 2 from this study. The clinical presentation, lesion location, radiographic features, surgical treatment, and outcomes were analyzed in each patient.
RESULTS
All patients in this study were male, and the duration from symptom onset to diagnosis in many of these patients was longer than that previously reported. Previous studies suggested that multiple SDAVFs typically occurred within 3 or fewer vertebral levels. However, >50% of the examined patients had remote lesions separated by more than 3 vertebral levels. Patients with remote lesions had a significantly worse outcome (1/7 vs 8/11, 95% CI 0.001-0.998; P = .049).
CONCLUSION
Accurately locating fistulas before spinal angiography is critical for managing multiple remote SDAVFs. Considering the possibility of multiple remote SDAVFs, careful interpretation of imaging findings is essential for an accurate diagnosis and appropriate treatment planning.
PubMed: 38647293
DOI: 10.1227/neu.0000000000002958 -
Journal of Craniovertebral Junction &... 2024Lymphangiomas are benign hamartomas in the spectrum of lymphatic malformations, exhibiting multifaceted clinical features. Spinal involvement is exceedingly rare, with... (Review)
Review
PURPOSE
Lymphangiomas are benign hamartomas in the spectrum of lymphatic malformations, exhibiting multifaceted clinical features. Spinal involvement is exceedingly rare, with only 35 cases reported to date. Both due to their rarity and chameleonic radiologic features, spinal lymphangiomas (SLs) are usually misdiagnosed; postoperatively, surgeons are thus confronted with an unexpected histopathological diagnosis with sparse pertinent literature and no treatment guidelines available.
METHODS
Here, we report the case of a 67-year-old female who underwent surgery for a T6-T7 epidural SL with transforaminal extension, manifesting with spastic paraparesis. Then, we present the results of the first systematic review of the literature on this subject, delineating the clinical and imaging features and the therapeutic implications of this rare disease entity.
RESULTS
Our patient was treated with T6-T7 hemilaminectomy and resection of the epidural mass, with complete recovery of her neurological picture. No recurrence was evident at 18 months. In the literature, 35 cases of SL were reported that can be classified as vertebral SL (n = 18), epidural SL (n = 10), intradural SL (n = 3), or intrathoracic lymphangiomas with secondary spinal involvement (n = 4). Specific treatment strategies (both surgical and nonsurgical) were adopted in relation to each of these categories.
CONCLUSION
Gathering knowledge about SL is fundamental to promote both correct preoperative identification and appropriate perioperative management of this rare disease entity. By reviewing the literature and discussing an exemplary case, we delineate a framework that can guide surgeons facing such an unfamiliar diagnosis.
PubMed: 38644908
DOI: 10.4103/jcvjs.jcvjs_125_23 -
World Neurosurgery Apr 2024Our study presents a single-center experience of resection of intradural spinal tumors either with or without using intraoperative computed tomography-based registration...
BACKGROUND
Our study presents a single-center experience of resection of intradural spinal tumors either with or without using intraoperative computed tomography-based registration and microscope-based augmented reality (AR). Microscope-based AR was recently described for improved orientation in the operative field in spine surgery, using superimposed images of segmented structures of interest in a two-dimensional or three-dimensional mode.
METHODS
All patients who underwent surgery for resection of intradural spinal tumors at our department were retrospectively included in the study. Clinical outcomes in terms of postoperative neurologic deficits and complications were evaluated, as well as neuroradiologic outcomes for tumor remnants and recurrence.
RESULTS
112 patients (57 female, 55 male; median age 55.8 ± 17.8 years) who underwent 120 surgeries for resection of intradural spinal tumors with the use of intraoperative neuromonitoring were included in the study, with a median follow-up of 39 ± 34.4 months. Nine patients died during the follow-up for reasons unrelated to surgery. The most common tumors were meningioma (n = 41), schwannoma (n = 37), myopapillary ependymomas (n = 12), ependymomas (n = 10), and others (20). Tumors were in the thoracic spine (n = 46), lumbar spine (n = 39), cervical spine (n = 32), lumbosacral spine (n = 1), thoracic and lumbar spine (n = 1), and 1 tumor in the cervical, thoracic, and lumbar spine. Four biopsies were performed, 10 partial resections, 13 subtotal resections, and 93 gross total resections. Laminectomy was the common approach. In 79 cases, patients experienced neurologic deficits before surgery, with ataxia and paraparesis as the most common ones. After surgery, 67 patients were unchanged, 49 improved and 4 worsened. Operative time, extent of resection, clinical outcome, and complication rate did not differ between the AR and non-AR groups. However, the use of AR improved orientation in the operative field by identification of important neurovascular structures.
CONCLUSIONS
High rates of gross total resection with favorable neurologic outcomes in most patients as well as low recurrence rates with comparable complication rates were noted in our single-center experience. AR improved intraoperative orientation and increased surgeons' comfort by enabling early identification of important anatomic structures; however, clinical and radiologic outcomes did not differ, when AR was not used.
PubMed: 38642835
DOI: 10.1016/j.wneu.2024.04.071