Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare and complex primary immunodeficiency disorder. The classic clinical triad of APS-1 includes chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. Clinically, APS-1 presents with significant variability and is characterized by autoimmune dysfunction affecting both endocrine organs (including the parathyroids, adrenal glands, thyroid, gonads, and pituitary) as well as non-endocrine tissues (such as the skin, liver, kidneys, lungs, eyes, and intestines).
View Article and Find Full Text PDFJ Assoc Physicians India
December 2024
Spinocerebellar ataxia (SCA)-1, 2, 3, 6, and 31 are associated with sleep behavior disorder. We had a 66-year-old male who presented with late-onset cerebellar ataxia. Before 2 years, the onset of cerebellar symptoms, he had a history of sleep behavior disorder.
View Article and Find Full Text PDFSjogren's syndrome is an autoimmune disorder that has a prominent involvement of exocrine glands. Systemic involvement of other organs can also happen. Peripheral nervous system involvement is common and may present as axonal sensory/sensorimotor or demyelinating polyneuropathy, mononeuritis multiplex, ganglionopathy, or cranial neuritis.
View Article and Find Full Text PDFRhombencephalitis is an inflammatory disease affecting the hindbrain (brainstem and cerebellum). The causes of rhombencephalitis can be divided into infections, autoimmune conditions, and paraneoplastic syndrome. Early onset rhombencephalitis is associated with demyelinating disorders or Epstein-Barr virus infection.
View Article and Find Full Text PDFMigraine prevalence has risen over the last few decades, which may be attributed to lifestyle changes. Epistaxis is unusual in migraine. Here we present a case series of four patients, who are presented with headaches associated with epistaxis.
View Article and Find Full Text PDFCerebral venous sinus thrombosis (CVST) is a challenging condition to diagnose and treat due to its diverse range of clinical presentations. The incidence of CVST is increasing, and although diagnostic techniques have improved, the mainstay of treatment is heparin followed by vitamin K antagonist (VKA), warfarin has remained largely unchanged for the past three decades. However, new direct oral anticoagulants (NOACs) like dabigatran have been developed to address the limitations of VKA therapy.
View Article and Find Full Text PDFAmong 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.
View Article and Find Full Text PDFLabrune 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.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFNeurol India
January 2024
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.
View Article and Find Full Text PDFNeurol India
November 2023
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.
View Article and Find Full Text PDFIntroduction: 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.
View Article and Find Full Text PDFCerebral 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.
View Article and Find Full Text PDFBackground: 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.
Ann Indian Acad Neurol
May 2022
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.
Ann Afr Med
October 2022
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.
View Article and Find Full Text PDFJ Glob Infect Dis
April 2022
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.
View Article and Find Full Text PDFCase 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.
View Article and Find Full Text PDFSubacute 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.
View Article and Find Full Text PDFIsolated ptosis is a rare presentation of neurocysticercosis (NCC). Here we report the case of a 45-year-old woman who presented with acute onset bilateral symmetrical ptosis with no other neurological deficit. Her imaging revealed a single cystic ring-enhancing lesion with perilesional oedema in the midbrain suggestive of NCC.
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