An Unusual Case of Neurofascin 186 Neuropathy.

Among the diverse array of neuropathies, autoimmune neuropathy stands out as a distinctive subset, where the body's immune system mistakenly attacks its nerve tissues, triggering inflammation and nerve damage. NF 186, also known as neurofascin 186, is a cell adhesion molecule crucial for the integrity and functioning of the peripheral nervous system. This case report highlights the clinical presentation specific to NF 186-positive autoimmune neuropathy and also the treatment modalities.

Rituximab Therapy for Immune-Mediated Neurological Diseases: Our Experience at a Tertiary Care Centre.

INTRODUCTION: Rituximab (RTX) is a monoclonal anti-CD20 chimeric antibody that inhibits B cell activity. However, it is an appealing substitute for traditional immunomodulatory drugs as a swiftly acting, targeted therapy with mounting evidence of efficacy and tolerance in numerous neuroinflammatory conditions. We discuss the scientific evidence for the use of RTX in neurological illnesses, as well as the dose, safety, and other practical elements of prescription. AIM: This study aims to assess and correlate the effects of RTX on immune-mediated neurological disorders. OBJECTIVES: The primary objective of this study is to determine the outcomes in patients treated with RTX for the following conditions: myasthenia gravis (MG), autoimmune encephalitis, multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), myelin oligodendrocyte glycoprotein antibody disease (MOGAD), immune-mediated peripheral neuropathy, and inflammatory muscle disease. The secondary objective is to assess adverse drug reactions in patients treated with RTX. METHODS: This is a prospective observational study conducted at a tertiary care centre. The data were analyzed for the period from May 2022 to May 2024. Approval was obtained from the institutional ethics committee before commencing the study, and written informed consent was obtained from all patients. RESULTS AND CONCLUSIONS: A total of 56 patients were included in the study. The distribution of patients according to diseases is as follows: MG (17), MS (11), NMOSD (10), MOGAD (7), immune-mediated peripheral neuropathy (6), autoimmune encephalitis (3), and inflammatory muscle disease (2). However, one patient was lost to follow-up in the autoimmune encephalitis group. All patients experienced improvements in symptoms, and no relapse episodes have been reported except for one patient who had a relapse in the inflammatory muscle disease group. During the infusion process, some adverse drug reactions, such as chills and rigors, were observed, and two patients experienced major side effects, such as Pott's disease and cryptogenic organizing pneumonia. Nevertheless, overall, rituximab shows promise as an off-label immunosuppressive treatment for the aforementioned neurological immune-mediated diseases.

Unraveling Labrune Syndrome: A Case Report on the Neurological Phenotype in SNORD118-Negative Patients.

Labrune syndrome is a rare neurogenetic disorder with varied presentations. Here, we report the case of a 53-year-old male who presented with seizures, gait imbalance, and upper limb tremors for two years. Imaging studies revealed extensive leukodystrophy, multiple cerebral calcifications, and cystic lesions characteristic of Labrune syndrome. However, whole exome sequencing did not detect the SNORD118 mutation, typically associated with Labrune syndrome. Although the SNORD118 mutation is commonly found in Labrune syndrome, a few cases of the syndrome without this mutation have also been reported. This suggests the possibility that other yet undiscovered mutations may cause the same phenotype.

Case Report: Chorea as a Rare Manifestation of Secondary Adrenal Insufficiency.

The word "chorea" comes from the Latin word "choreus," which means dancing movement. Chorea is defined as a hyperkinetic movement disorder characterized by uncontrolled, unintended, jerky, brief, irregular, random movements involving the limbs or facial muscles. Here, we discuss the case of a 48-year-old male with hypothyroidism for two years, which is well-controlled with medication. He presented with behavioral disturbances for the past seven months and choreiform movements affecting all four limbs, his tongue, and his face for the past six months. Investigations revealed hyponatremia and low serum osmolality. An MRI of the brain showed the empty sella sign. Further investigations revealed low levels of adrenocorticotropic hormone (ACTH), prolactin, and testosterone. Considering the diagnosis of chorea with euvolemic hyponatremia due to secondary adrenal insufficiency, the patient was started on tetrabenazine, trihexyphenidyl, oral hydrocortisone, and gradual correction of sodium level. The patient's condition improved during the hospital stay, and he continues to do well in routine follow-ups.

Neurolymphomatosis as an Initial Presentation of Non Hodgkins Lymphoma: A Case Report.

Neurolymphomatosis (NL) is a rare clinical disease where neoplastic cells invade the cranial nerves, roots, plexus, or other peripheral nerves in patients with hematologic malignancy mainly Non-Hodgkins Lymphoma(NHL). Primary NL occurs as the first manifestation of a hematologic malignancy. We report a 68-year male who presented to us with low backache and burning paraesthesia in the back of both lower limbs followed by a left foot drop. The clinical and electrophysiological examination was suggestive of bilateral lumbosacral radiculopathy involving L2-S1 roots. Plain MRI of the lumbosacral spine was normal. F18FDG PET CT Scan revealed increased uptake in both L5 and left L3 roots. Contrast-enhanced MRI of the lumbosacral spine showed marked fusiform thickening and enhancement of both L5 and left L3 roots CT-guided Biopsy from left L5 root, lymph node, and bone marrow was suggestive of large B cell lymphoma-germinal center cell type. The diagnosis was neurolymphomatosis secondary to NHL.

Acute Subdural Hematoma: A Rare Manifestation of Cerebral Venous Sinus Thrombosis.

Cerebral venous sinus thrombosis (CVST) usually presents with headaches, seizures, and signs and symptoms of raised intracranial pressure (ICP). Risk factors for CVST commonly include hypercoagulable states such as pregnancy and the peripartum period, dehydration, vitamin B12 deficiency, hyper-homocysteinemia, coagulation factor deficiency, antiphospholipid antibody disease, oral contraceptive pill intake, etc. CVST with venous hemorrhagic infarction is commonly reported, but only a few cases have been reported in the literature of CVST presenting as SDH. Here, we present a case of a 28-year-old female who presented with an acute onset of severe headache, vomiting, and bilateral papilledema on fundus examination. She had a prior history of oral contraceptive pill intake. An MRI brain venogram suggested CVST involving the superior sagittal sinus, right transverse, and a few cortical vein thromboses with subdural hematoma (SDH) in the frontal-parieto-temporo-occipital region on the right side. The patient was treated with anticoagulants and antiepileptics and had significant improvement in symptoms with the resolving SDH on subsequent scans.

Neuromyelitis Optica Presenting as Non-Communicating Hydrocephalus: A Case Report.

Neuromyelitis Optica (NMO) is a demyelinating disease predominantly involving optic nerves, spinal cord and peri-ventricular regions which are rich in Aquaporin-4 receptors. Aquaporin-4 (AQP4) antibodies are implicated in the pathogenesis of NMO. Association of hydrocephalus ( communicating and non communicating) with NMO is very rare. We report a case of 32 years old female patient who presented with 2 months history of progressive headache, visual obscurations and gait imbalance . Clinical examination revealed bilateral papilloedema with preserved visual acuity. She had truncal and gait ataxia. Rest of the examination of nervous system was normal. MRI brain showed non- communicating hydrocephalus and T2 and FLAIR hyperintensities in periventricular and periaqueductal regions. AQP4 antibodies were positive in serum and negative in cerebrospinal fluid(CSF). Ventriculo - peritoneal shunt was placed and she was treated with steroids and azathioprine. Her headache and visual symptoms improved. However, after 8 months she presented with acute optic neuritis of right eye which was treated with intravenous methylprednisolone and plasmapharaesis.

Psychiatric Symptoms and Fatigue in COVID-19 Survivors.

INTRODUCTION: Psychiatric symptoms and fatigue are common after the coronavirus disease 2019 (COVID-19) illness. The cause of these symptoms is direct neuronal injury and indirect injury with immune-mediated inflammation. In addition, social factors also affect mental health. OBJECTIVE: We aim to compare psychiatric symptoms and fatigue between COVID-19 survivors and healthy controls. MATERIAL AND METHODS: We prospectively evaluated 100 COVID-19 survivors for anxiety, depression, positive affect, and behavior control using the Mental Health Inventory (MHI). Fatigue is assessed using the Modified Fatigue Impact Scale (MFIS) score. We compared them with 100 healthy controls. RESULTS: There was a significant statistical difference between the MHI score and individual components of MHI. Overall, MHI scores in cases and controls were 79.41 and 93.31, respectively, with a P value of less than 0.0001. Computed scores for anxiety, depression, behavior control, and positive affect of COVID-19 survivors showed statistically significant differences as compared to healthy controls. There was a weak association between hospital stay duration and poor MHI scores. Fatigue was significantly worse in COVID-19 survivors, with a mean score of 6.93 in cases and 5.35 in controls, with a P value of 0.0001. This was a cross-sectional study evaluating psychiatric symptom scores, but not establishing the diagnosis. It is suggested that appropriate treatment and counseling for these symptoms should be done. CONCLUSIONS: Psychiatric symptoms and fatigue were significantly more common in COVID-19 patients after recovery from acute illness. It is a major contributing cause of morbidity other than organic complications of COVID-19 and requires attention in management.

Predictors of disease severity in COVID-19 associated mucormycosis: impact of HbA1C levels, time lag to mucormycosis onset, and radiologic patterns of paranasal sinuses and spaces involvement.

BACKGROUND: Identifying early predictors of severe Covid-19 associated mucormycosis (CAM) can help improve management and treatment outcomes. OBJECTIVES: Primary: To identify clinical and radiological predictors of disease severity in CAM. Secondary: To describe patterns of central nervous system (CNS) involvement in CAM. METHODS: A total of 71 patients with CAM were included in the study. Based on the anatomical extent of involvement on MRI, patients were divided into three groups: Sinus (paranasal sinuses), Orbit (orbital spread), and CNS (CNS spread). Clinical parameters and radiological patterns of involvement of sinuses and extra sinus spaces were studied between the three groups. Patterns of CNS involvement were also described. RESULTS: A shorter time lag between COVID-19 infection and CAM, as well as high HbA1C levels, were found to be associated with severe disease. Involvement of the sphenoid, ethmoid and frontal sinuses, T1 hyperintense signal in the sphenoid, as well as bony involvement of the sphenoid sinus, were significantly associated with severe disease. Extra-sinus spread into pre/retroantral space, pterygopalatine fossa, and masticator spaces were also significantly associated with a severe disease course. The most common pattern of CNS spread was cavernous sinus involvement, followed by pachymeningeal spread and cranial nerve involvement. CONCLUSION: Early identification of the above-described predictors in patients presenting with CAM can help detect those at risk for developing severe disease. A longer duration of amphotericin, combined with a more aggressive surgical approach in selected cases, may lead to better long-term outcomes.

Prevalence of bladder dysfunction, urodynamic findings, and their correlation with outcome in Guillain-Barre syndrome.

AIMS: The micturitional disturbances and related urodynamic studies are infrequently reported in Guillain Barre syndrome (GBS). In the present study, we evaluated patients of GBS for bladder dysfunction and urodynamic abnormalities. We also tried to assess relation between urodynamic findings with disability in patients diagnosed as GBS. METHODS: In this study, 38 patients of GBS were assessed for micturitional disturbances and disability using Hughes motor grade, Overall Disability Sum Score (ODSS), Medical Research Council (MRC) sum score. Urodynamic studies were carried out at baseline and at 2 months. RESULTS: Out of 38 patients, 10 patients had urinary symptoms, 23 patients had urodynamic abnormalities and most common being detrusor underactivity in 15 patients. Other findings were detrusor sphincter dyssynergia in six patients, acontractile bladder in five patients, and detrusor overactivity in three patients. Decreased uroflow rates were seen in 14 patients. Severe disability in the form of Hughes motor grades 4-5, ODSS leg scores 4-7, low MRC scores were significantly more common in patients with urodynamic abnormalities. The axonal variant of GBS patients demonstrated more frequent abnormal urodynamic findings. CONCLUSIONS: Our study revealed fair incidence of micturitional disturbances and urodynamic dysfuctions in GBS. The subclinical bladder involvement was frequently observed, substantiated by urodynamic assessment. The disability, particularly of lower limbs had positive correlation with urodynamic abnormality.

Neurological Manifestations in COVID-19 in Three Waves of the Pandemic: An Inpatient Study from India.

Background: Though severe acute respiratory syndrome coronavirus 2 (SARS CoV 2) virus primarily affects respiratory system, neurological involvement is well known. Aims: To describe the neurological manifestations of coronavirus disease 2019 (COVID-19) during three waves of the pandemic. Methodology: This was an ambispective observational single-centre study to describe the neurological manifestations of COVID-19 infection among inpatients from a tertiary care referral centre in Western India from March 2020 to January 2022. Results: Out of 14,822 patients admitted with COVID-19, 307 (2.07%) had neurological manifestations. Neurological manifestations were seen in 1.87% in first wave (onset to 10 Feb 21); 2.37% in second wave (Feb 11, 2021 to Dec 31, 2021) and 6.26% in third wave (Jan 1, 2022 to Jan 31, 2022). The most common neurological manifestations were encephalopathy (34.5%), ischemic stroke (32.1%), and acute symptomatic seizures (8.8%). Encephalopathy (p = 0.028) was more common in first wave while seizures were more common in third wave (p = 0.001). In patients with encephalopathy, hypoxia (p = 0.0001), shock (p = 0.001), renal involvement (p = 0.002), and sepsis (p = 0.033) were associated with higher mortality; while those with no systemic involvement had better survival (p = 0.0001). Among patients with ischemic stroke, 32.1% did not have any traditional vascular risk factors. These patients were 9 years younger and required 6 days less hospitalization than patients of stroke with vascular risk factors. Conclusion: SARS-CoV-2 produces many central and peripheral nervous system manifestations. Encephalopathy was more common in first wave while acute symptomatic seizures were more common in third wave. Encephalopathy was most common neurological manifestation with progressively higher mortality with increased number of systemic comorbidities. Ischemic stroke was seen in patients who had vascular risk factors as well as in patients without them.

Acute Onset Flaccid Paraplegia with Monocular Diminution of Vision in a Case of Chikungunya Infection.

Chikungunya is a common tropical viral infection in India. The majority of patients have limited systemic manifestations. Neurological manifestations of chikungunya may be due to direct viral infection or immune mediated. We present a case of a 45-year-old male who presented with acute onset paraplegia with diminution of vision in the right eye. A detailed evaluation revealed a diagnosis of chikungunya myeloradiculitis with viral keratitis. The patient was treated with steroids followed by intravenous immunoglobulin and had a good recovery.

Novel transthyretin gene mutation in familial amyloid neuropathy in India: Case.

Familial amyloid polyneuropathy (PN), also known as amyloid transthyretin (TTR)-PN is an autosomal dominant adult-onset fatal disease, if not treated. It occurs due to mutations in (TTR) gene which leads to a faulty TTR protein which folds up to form amyloid and gets deposited mainly on nerves and causes length-dependent PN and autonomic dysfunction. We report a case of a 45-year-old female who presented with symptoms of painful peripheral neuropathy for 5 months, a history of deafness for 5 years, and cardiac pacemaker implantation 2 years ago for complete heart block. She denied any symptoms of autonomic dysfunction. Her brother with similar symptoms died of cardiac arrest at the age of 50 years. Clinical examination was suggestive of symmetrical sensorimotor PN. The nerve conduction study was suggestive of axonal sensorimotor PN. Abdominal fat biopsy was negative for amyloid. Sural nerve biopsy was suggestive of amyloid neuropathy. Genetic analysis showed c. 165G > T mutation encoding amino acid p. Lys55Asn on exon-4 of TTR gene. This mutation has not been reported from India.

Résumé La polyneuropathie amyloïde familiale (NP), également connue sous le nom de transthyrétine amyloïde (TTR) -PN, est une maladie mortelle autosomique dominante de l'adulte, si elle n'est pas traitée. Il se produit en raison de mutations du gène (TTR) qui conduisent à une protéine TTR défectueuse qui se replie pour former de l'amyloïde et se dépose principalement sur les nerfs et provoque une PN dépendante de la longueur et un dysfonctionnement autonome. Nous rapportons le cas d'une femme de 45 ans qui présentait des symptômes de neuropathie périphérique douloureuse depuis 5 mois, des antécédents de surdité depuis 5 ans et l'implantation d'un stimulateur cardiaque il y a 2 ans pour un bloc cardiaque complet. Elle a nié tout symptôme de dysfonctionnement autonome. Son frère présentant des symptômes similaires est décédé d'un arrêt cardiaque à l'âge de 50 ans. L'examen clinique évoquait une NP sensorimotrice symétrique. L'étude de la conduction nerveuse était évocatrice d'une NP sensorimotrice axonale. La biopsie de la graisse abdominale était négative pour l'amyloïde. La biopsie du nerf sural était évocatrice d'une neuropathie amyloïde. L'analyse génétique a montré c. Mutation 165G > T codant pour l'acide aminé p. Lys55Asn sur l'exon-4 du gène TTR. Cette mutation n'a pas été signalée en Inde. Mots clés: Neuropathie amyloïde familiale, tests génétiques, biopsie nerveuse, amylose à transthyrétine.

Atypical Multiple Sclerosis with Antibody to MOG.

CASE PRESENTATION: We report a case of a young female who had magnetic resonance imaging (MRI) brain lesions typical of multiple sclerosis (MS) with cerebrospinal fluid (CSF) oligoclonal bands (OCBs) and definite multiple sclerosis based on revised McDonald criteria; however, she also had atypical features of mild pleocytosis, brainstem and cerebellar peduncle involvement apart from opticospinal (OS) involvement. She also turned out to be positive for anti-myelin oligodendrocyte glycoprotein (MOG) antibody; hence, she was diagnosed with atypical multiple sclerosis. This case highlights when to suspect atypical MS and its management approach. DISCUSSION: Typical MS cases are largely anti-MOG-negative. In a study of 50 Japanese cases, with anti-aquaporin 4 (AQP4)-immunoglobulin (IgG)-negative OSMS, just 2 were MOG-IgG-positive, but they had some features atypical for MS, such as bilateral optic neuritis, longitudinally extensive transverse myelitis, or moderate pleocytosis. In another study, antibodies to MOG were found in about 5% (5/104) of preselected adult patients with MS. Patients with MS with antibodies to MOG showed typical MS lesions on brain MRI with concomitant severe brainstem and spinal cord involvement and had a severe disease course with high relapse rates. CONCLUSION: In conclusion, any patient showing typical MS lesions on brain MRI with OCB present in CSF but has atypical features like mild pleocytosis with brainstem, cerebellar, or OS involvement should also be tested for autoantibodies to MOG, and if positive, then he/she would require aggressive treatment approach in the form of plasma exchange, if resistant to pulse steroid therapy, followed by either rituximab or natalizumab rather than trying other disease modifying therapies (DMTs).

Subacute sclerosing panencephalitis presenting as neuromyelitis optica.

Subacute sclerosing panencephalitis (SSPE) is a slowly progressing inflammatory and degenerative disorder of the brain caused by a mutant measles virus. The diagnosis of SSPE is based on characteristic clinical and EEG findings (periodic complexes) and demonstration of elevated antibody titres against measles in cerebrospinal fluid. SSPE can have atypical clinical features at the onset. The authors here report a case of a 3-year-old child who presented with vision loss followed 15 months later by quadriparesis with bladder involvement. These clinical features resembled that of neuromyelitis optica. However, as the disease progressed, appearance of myoclonic jerks, periodic discharges on EEG and positive cerebrospinal fluid serology for measles led to the final diagnosis of SSPE.