UNASSIGNED: Acute hemorrhagic leukoencephalopathy (AHLE) is a rare and devastating condition that can present with various neurological symptoms. The predisposing and initiating factors of AHLE are not fully understood. AHLE has a high morbidity and significant mortality rates, however, our case presents a surviving young girl.
UNASSIGNED: Thirteen years old previously healthy girl was referred to the emergency department due to drowsiness, preceded by an upper respiratory infection 10 days earlier. Firstly, she was treated empirical with antiviral medication (Acyclovir) directed to herpes simplex virus and intravenous (IV) methylprednisolone pulses. When she did not respond well, intravenous immunoglobulin was administrated, which helped with the end-result diagnosis based on clinical and imaging findings.
UNASSIGNED: AHLE is a fatal rare demyelinating disease characterized by an acute rapidly progressive fulminant inflammation of the white matter, it is usually misdiagnosed due to being a diagnosis of exclusion, and the much more common other diseases, including infectious encephalitis, meningitis, fulminant multiple sclerosis, other causes of acute disseminated encephalomyelitis. Different types of CNS infiltrates, such as neutrophils in AHLE and lymphocytes in acute disseminated encephalomyelitis, do not support the idea of differentiating the two diseases. The process of differentiating between these two diseases relies mostly on laboratory and imaging findings, which are well demonstrated in this case report.
UNASSIGNED: The authors conclude this report by highlighting the dearth in published knowledge about this disease, and encouraging further studies be conducted about this topic.

Distal arthrogryposis with impaired proprioception and touch (DAIPT) is an autosomal recessive neurogenetic disorder caused by homozygous pathogenic variants in the PIEZO2 gene. Here we present four Omani families with multiple affected members with DAIPT. The genetic diagnosis was established by whole exome sequencing and we identified a previously unreported homozygous missense variant PIEZO2 : c.1591T > C, P.(Trp531Arg) in one family with two affected members. All patients showed clinical manifestation shortly after birth including transient respiratory insufficiency, significant hypotonia, and gross motor developmental delay with preserved cognitive function. The skeletal manifestation including arthrogryposis is more pronounced with age as we saw in our older patient. This case report will be of importance for physicians and genetic counsellors for faster diagnosis and for offering carrier testing for at-risk family members as part of the premarital testing program, which could help in reducing the burden of this disorder.

Neuromyelitis optica spectrum disorder (NMOSD) is a rare central nervous system disease presenting as optic neuritis, myelitis, and brainstem syndromes. It may be aquaporin-4 seropositive, anti-myelin oligodendrocyte glycoprotein (MOG) antibody seropositive, or double seronegative. Double-seronegative NMOSD can pose a diagnostic and therapeutic challenge. Treatment typically aims to decrease the incidence of relapse, for which high-dose intravenous methylprednisolone is the first-line agent. Non-steroid treatments include azathioprine, mycophenolate mofetil, and rituximab. This case describes a 45-year-old female presenting with left arm numbness and weakness for three months. She had been previously diagnosed with optic neuritis in 2013 but was lost to follow-up. Progression of weakness warranted admission to the neurology department. Diagnostic work and imaging were suggestive of neuromyelitis optica. Tests for aquaporin-4, anti-MOG, immunoglobulin G, and immunoglobulin M in the cerebrospinal fluid were all negative. Initial treatment comprised methylprednisolone; however, due to the progression of symptoms, she was given two cycles of rituximab. Rituximab targets the CD20 antigen in B cells and is thought to reduce the risk of relapse and the severity of NMOSD. The patient\'s Barthel index score, expanded disability status scale score, and motor examination improved after two cycles of rituximab.

Tumefactive multiple sclerosis (MS) is a subtype of atypical and rare MS that presents with tumor-like lesions in the central nervous system. The lesions may demonstrate a mass effect, edema, with ring enhancement. They can be mistaken for brain tumors or brain abscesses radiologically and clinically. Here we describe an instructive case of a 55-year-old woman with tumefactive MS who presented with occasional numbness in her right arm and leg, headache, thought confusion, and blurred vision for 2 years.

OBJECTIVE: We investigated the effect of L-carnitine (LC) on cuprizone (Cup) demyelinating rat model and its possible underlying mechanisms.
METHODS: Thirty male Sprague-Dawley (SD) rats were randomly allocated to three groups: the normal control group; the Cup group, in which Cup was administrated at a dose of 450 mg/kg per day orally via gastric gavage for 5 weeks; and the Cup + LC group, which received the same dose of Cup as the Cup group, except that the rats were treated additionally with LC 100 mg/kg/day orally for 5 weeks. The nerve conduction (NCV) in isolated sciatic nerves was measured; then, the sciatic nerves were isolated for H&E staining and electron microscope examination. The expression of myelin basic protein (MBP), IL-1β, p53, iNOS, and NF-KB by immunohistochemistry was detected in the isolated nerves. A PCR assay was also performed to detect the expression of antioxidant genes Nrf2 and HO-1. In addition, the level of IL-17 was measured by ELISA.
RESULTS: There was a significant reduction in NCV in the Cup group compared to normal rats (p < 0.001), which was significantly improved in the LC group (p < 0.001). EM and histopathological examination revealed significant demyelination and deterioration of the sciatic nerve fibers, with significant improvement in the LC group. The level of IL-17 as well as the expression of IL-1β, p53, iNOS, and NF-KB were significantly increased, with significant reduction expression of MBP in the sciatic nerves (p < 0.01), and LC treatment significantly improved the studied parameters (p < 0.01).
CONCLUSIONS: The current study demonstrates a neuroprotective effect of LC in a Cup-induced demyelinating rat model. This effect might be due to its anti-inflammatory and antioxidant actions.

OBJECTIVE: To investigate the effect of vanillic acid (VA) on a Cuprizone (Cup) demyelinating rat model and the mechanisms behind such effect.
METHODS: Thirty adult male Sprague Dawley (SD) rats were randomly divided into three groups: control, Cuprizone, and VA groups. Cuprizone was administrated at a dose of 450 mg/kg per day orally via gastric gavage for 5 weeks. The nerve conduction velocity (NCV) was studied in an isolated sciatic nerve, and then the sciatic nerve was isolated for histopathological examination, electron microscope examination, immunohistochemical staining, and biochemical and PCR assay. The level of IL17 was detected using ELISA, while the antioxidant genes Nrf2, HO-1 expression at the level of mRNA, expression of the myelin basic protein (MBP), interferon-gamma factor (INF)-γ and tumor necrosis factor (TNF)-α, and apoptotic marker (caspase-3) were measured using immunohistochemistry in the sciatic nerve.
RESULTS: There was a significant reduction in NCV in Cup compared to normal rats (p < 0.001), which was markedly improved in the VA group (p < 0.001). EM and histopathological examination revealed significant demyelination and deterioration of the sciatic nerve fibers with significant improvement in the VA group. The level of IL17 as well as the expression of INF-γ and caspase-3 were significantly increased with a significant reduction in the expression of MBP, Nrf2, and HO-1 in the sciatic nerve (p < 0.01), and VA treatment significantly improved the studied parameters (p < 0.01).
CONCLUSIONS: The current study demonstrated a neuroprotective effect for VA against the Cup-induced demyelinating rat model. This effect might be precipitated by the inhibition of inflammation, oxidative stress, and apoptosis.

暂无摘要。

We decided to conduct the first systematic review with meta-analysis to provide the highest level of up-to-date evidence on the occupational risk factors for Multiple Sclerosis.
A systematic, comprehensive literature search was performed in four electronic academic databases. We included any case-control study that enrolled working-age subjects and compared the proportion of MS cases with controls who were not exposed to an occupational risk factor. The primary outcome was the occurrence of MS. The quality assessment was performed with the Critical Appraisal Checklist for Case Control Studies, developed, and validated by the Joanna Briggs Institute. All the selection process was also carried out by two independent and previously trained researchers.
Overall, the total sample included 19,004 people with MS and 4,164,162 controls. Agricultural workers (OR = 1.44, 95% CI 1.13-1.83), offshore workers (OR = 3.56, 95% CI 2.74-4.61), and hairdressers (OR = 8.25, 95% CI 1.02-66.52) were associated with a higher probability of being diagnosed with MS. In parallel, workers exposed to toxic fumes from oil wells (OR = 16.80, 95% CI 8.33-33.90), low-frequency magnetic fields (OR = 1.71, 95% CI 1.03-2.72), and pesticides (OR = 3.17, 95% CI = 2.53-3.99) also had an increased likelihood of having MS.
Our study has the potential to influence more assertive public policies. Nevertheless, future studies on how the occupational setting may contribute to the incidence of MS are highly recommended.
The protocol was registered in the international prospective register of systematic reviews (PROSPERO- CRD42023443257).

Magnetic resonance imaging (MRI) and clinicopathological tools have led to the identification of a wide spectrum of autoimmune entities that involve the spine. A clearer understanding of the unique imaging features of these disorders, along with their clinical presentations, will prove invaluable to clinicians and potentially limit the need for more invasive procedures such as tissue biopsies. Here, we review various autoimmune diseases affecting the spine and highlight salient imaging features that distinguish them radiologically from other disease entities.

UNASSIGNED: The clinical presentations of demyelinating diseases are variable and can range from mild symptoms to fulminant presentations. Acute disseminated encephalomyelitis is one of those diseases which usually follow an infection or vaccination.
UNASSIGNED: We report a case of extensive acute demyelinating encephalomyelitis (ADEM) with massive brain swelling. A 45-year-old female presented to the emergency room with status epilepticus. Patient has no history of any associated medical problems. Glasgow coma scale (GCS) was 15/15. CT brain was normal. Lumbar puncture was done and cerebrospinal fluid showed pleocytosis and increased protein content. About 2 days after admission, the conscious level rapidly deteriorated and GCS was 3/15, with the right pupil fully dilated and unreactive to light. Computed tomography and magnetic resonance imaging brain were done. We performed an urgent decompressive craniectomy as a life-saving procedure. Histopathological examination was suggestive of ADEM.
UNASSIGNED: Few cases of ADEM with brain swelling were reported, but there is no solid consensus about the appropriate management of these cases. Decompressive hemicraniectomy is a possible choice, but further research is needed to evaluate the proper timing, and indication of surgery.