Transcortical sensory aphasia heralding SARS-Cov-2-induced autoimmune encephalitis with gyral restricted diffusion hyperintensities: a novel case report.

Background: Coronavirus disease 2019 (CoVID-19), primarily thought of as a respiratory system disease is actually a multi-system disease with immunological implications. CNS involvement in COVID has been explained in recent literature mainly for stroke, encephalopathy, encephalitis, acute disseminated encephalomyelitis and myelopathy. There are few studies characterizing clinical spectrum of COVID autoimmune encephalitis. We present a unique case of post-COVID autoimmune encephalitis in a diabetic male presenting with language dysfunction and novel radiologic findings. Case presentation: Patient admitted to inpatient department of a tertiary care hospital of India was evaluated by bedside clinical examination, routine blood tests, CSF study with intrathecal SARS-Cov-2 antibody detection, commercially available tests for autoimmune encephalitis, neuroviral panel with HSV PCR, EEG, 3-Tesla MRI and PET scan. Patient was found to have personality change and transcortical sensory aphasia in the outset of COVID encephalitis. MRI findings like temporal involvement and insular ribboning are also being reported. The patient was treated with IV immunoglobulin and is on an improving course. Conclusions: This case reports dysphasia due to COVID-mediated injury to the language networks, with novel radiologic findings. Role of parainfectious versus immune etiology is also discussed. Further studies are needed to elucidate the mechanism and clinical spectrum of post-COVID autoimmune encephalitis.

Claustrum hyperintensity: a rare radiological correlate in Niemann-Pick disease.

A 5-year-old male child of consanguineous parentage, without any adverse perinatal history, presented with progressive cognitive regression predominantly in the language and attention domains, for 2 years. He had simultaneous pyramidal and extrapyramidal involvement, frequent generalised tonic-clonic seizures and recurrent respiratory tract infections. Examination was significant for vertical supranuclear gaze palsy, coarse facial features and splenomegaly. Given the clinical features, in the background of consanguinity and mother's history of spontaneous pregnancy losses, inborn errors of metabolism were suspected. Following relevant investigations including tailored genetic study, Niemann-Pick disease type C (NPC) was diagnosed. Interestingly, MRI brain showed bilateral T2/fluid-attenuated inversion recovery claustrum hyperintensities, which are more commonly associated with autoimmune encephalitis and febrile infection-related epilepsy syndrome and not reported previously in NPC. Additionally, language regression as a presenting manifestation in NPC as opposed to classical dysarthria makes this case truly unique.

"Clinical Profile of Genetically Proven Huntington's Disease Patients from Eastern India".

BACKGROUND AND AIMS: To study the clinical profile of genetically proven Huntington's disease (HD) patients from eastern India. METHODS: This cross sectional study selected patients of HD after genetic confirmation of expanded CAG repeats in Huntingtin (HTT) gene. We performed detail clinical evaluation including cognitive and neuropsychological assessment, and imaging of brain. RESULTS: This study included 75 patients (male: 57.3%; female: 42.7%). Mean age at onset was 37.12 (range 16-62) years; juvenile variety (onset below 20 years) was detected in 5.3%. Paternal transmission was commoner. Manifestations at onset were motor in 81.3% patients, behavioral in 10.7% and cognitive impairment in 8%. After chorea, next common movement disorder was dystonia. Frontal lobe dysfunction was found in 77.3% patients. Behavioral disturbances were observed in 77.3% patients and commonly manifested as depression, irritable behavior and anxiety. Among the three onset groups (motor/behavioral/cognitive), there was no significant difference regarding age at onset, gender distribution, pattern of inheritance (paternal/maternal), and at the time of evaluation, all groups had essentially similar pattern of clinical features. Mean CAG repeat of the patients was 48.25 (range 40-79). Our study showed some differing clinical characteristics compared to previous studies from the Indian subcontinent. CONCLUSION: Clinical features in our study showed differences from previous studies from the Indian subcontinent. We had more cognitive-onset patients. However, behavioral onset was lower in our study. Motor, behavioral and cognitive onset groups of HD were comparable regarding demographics, family history, CAG repeat lengths and major clinical features at the time of evaluation.

Epidemiology of Peripheral Neuropathy: An Indian Perspective.

Peripheral neuropathy (PN) is a common disorder and presents as diagnostic and therapeutic challenge to physicians and neurologists. In epidemiological studies from India from various regions the overall prevalence of PN varied from 5 to 2400 per 10,000 population in various community studies. India is composed of a multiethnic, multicultural population who are exposed to different adverse environmental factors such as arsenic and lead. Use of different chemotherapeutic agents with propensity to affect peripheral nerves, increasing methods of diagnosis of connective tissue disorders and use of immunomodulating drugs, growing aging population is expected to change the spectrum and burden of peripheral neuropathy in the community. The other important aspect of peripheral neuropathies is in terms of the geographical and occupational distribution especially of toxic neuropathies like arsenic which is common in eastern belt; lead, mercury and organo-phosphorous compounds where occupational exposures are major sources. Inflammatory neuropathies either due to vasculitis or G B Syndrome, chronic inflammatory polyradiculopathies are another major group of neuropathies which is increasing due to increase longevity of Indian subjects and immunological impairment, also adds to morbidity of the patients and are potentially treatable. Leprous neuropathy is common in India and although its frequency is significantly decreasing because of national control program yet pure neuritic form still remains a cause of concern and similar is the case with another infective cause like diptheric neurpathy. Thus this article is an attempt to cover major categories and also highlight the areas where further studies are needed.

Spinocerebellar ataxia type 6 in eastern India: Some new observations.

INTRODUCTION: Spinocerebellar ataxias (SCAs) are hereditary, autosomal dominant progressive neurodegenerative disorders showing clinical and genetic heterogeneity. They are usually manifested clinically in the third to fifth decade of life although there is a wide variability in the age of onset. More than 36 different types of SCAs have been reported so far and about half of them are caused by pathological expansion of the trinucleotide, Cytosine Alanine Guanine (CAG) repeat. The global prevalence of SCA is 0.3-2 per 100,000 population, SCA3 being the commonest variety worldwide, accounting for 20-50 per cent of all cases, though SCA 2 is generally considered as the commonest one in India. However, SCA6 has not been addressed adequately from India though it is common in the eastern Asian countries like, Japan, Korea and Thailand. OBJECTIVE: The present study was undertaken to identify the prevalence of SCA6 in the city of Kolkata and the eastern part of India. MATERIALS AND METHODS: 83 consecutive patients were recruited for the study of possible SCAs and their clinical features and genotype were investigated. RESULTS: 6 of the 83 subjects turned out positive for SCA6, constituting therefore, 13.33% of the patient pool. DISCUSSION: SCA6 is prevalent in the eastern part of India, though not as frequent as the other common varieties. CONCLUSIONS: Further community based studies are required in order to understand the magnitude of SCA6 in the eastern part, as well as in other regions of India.

Neuromyelitis Optica Spectrum Disorder with Tumefactive Demyelination mimicking Multiple Sclerosis: A Rare Case.

Neuromyelitis optica spectrum disorder (NMOSD) is a diverse condition which not only encompasses isolated longitudinally extensive transverse myelitis (LETM) and optic neuritis but also includes area postrema syndrome, acute brainstem syndrome, symptomatic narcolepsy or acute diencephalic clinical syndrome, and symptomatic cerebral syndrome. Imaging may reveal periependymal lesions surrounding the ventricular system or involvement of corticospinal tracts, area postrema, diencephalon, and corpus callosum. Rarely, there may be hemispheric tumefactive lesions that enhance in a "Cloud-like" fashion on gadolinium injection unlike in tumefactive multiple sclerosis where there is incomplete ring enhancement. Here, we present a case of aquaporin-4 positive relapsing NMOSD who presented to us with recurrent episodes of paraparesis with LETM and tumefactive lesions of brain on imaging, which enhanced in an incomplete ring like pattern resembling multiple sclerosis.

Van der Knaap disease: a rare disease with atypical features.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC), or Van der Knaap disease, is a rare autosomal recessive disorder. It is characterised by macrocephaly that either presents at birth or develops during infancy. It occurs more commonly in some ethnicities where consanguinity is common, such as in the Agrawal community in India. This disease typically presents with a history of delayed motor milestones in affected children. MRI findings including leukodystrophy and subcortical cysts are hallmarks of the disease and yield the diagnostic clue in most cases. Several cases of Van der Knaap disease with classical features have been reported in the literature. We present a case of Van der Knaap disease with classical MRI features, including a few distinctly atypical characteristics in its epidemiological, clinical and electrophysiological attributes.

Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India.

BACKGROUND: Progressive cerebellar ataxia inherited by autosomal dominant transmission is known as Spino Cerebellar Ataxia (SCA). AIMS AND OBJECTIVES: To look for various clinical profile and molecular genetics of patients with SCAs and their phenotype-genotype correlation of patients with SCAs. MATERIALS AND METHODS: This was a cross-sectional study conducted at Bangur Institute of Neurosciences, Kolkata from June 2010 to April 2013. We selected patients from the neurogenetic clinic of our institute and performed genetic test for SCA 1, 2, 3, 6 and 12. The diagnosis was based on suggestive clinical features and positive genetic study, done by polymerase chain reaction. RESULTS: 83 patients were tested for trineucleotide repeats and turned out 45 positive for the mentioned SCAs. We found 13(28.9%) SCA-1, 18(40%) SCA-2, 7(15.6%) SCA-3, 6(13.3) SCA-6 and 1(2.2%) SCA-12 patients. Half of the remaining 38 patients had positive family history. The mean age of onset were 38.46 years in SCA-1, 29.55 years in SCA-2, 38.43 years in SCA-3, 47.33 years in SCA-6. Slow saccades were observed in 7(53.8%) SCA-1, 17(94.4%) SCA-2, 4(57.1%) SCA-3, 3(50%) SCA-6 patients. Hyporeflexia was noticed in 5(27.8%) SCA-2 patients. Pyramidal tract involvement was found in 8(61.5%) SCA-1, 4(22.2%) SCA-2, 4(57.1%) SCA-3 and 1(16.7%) SCA-6 patients. CONCLUSION: Our study showed SCA-2 is the most common variety of SCA and genotypic-phenotypic correlation was observed in SCA-1,2,6 and 12 patients.