Cost-effective Whole Exome Sequencing discovers pathogenic variant causing Neurofibromatosis type 1 in a family from Jammu and Kashmir, India.

Neurofibromatosis type 1 (NF1) is a multisystemic hereditary disorder associated with an increased risk of benign and malignant tumor formation predominantly on the skin, bone, and peripheral nervous system. It has been reported that out of all the NF1 cases, more than 95% cases develop the disease due to heterozygous loss-of-function variants in Neurofibromin (NF1) gene. However, identification of NF1 causative variants by presently recommended method of gene-targeted Sanger sequencing is challenging and cost-intensive due to the large size of the NF1gene with 60 exons spanning about 350 kb.

LoCa LoPa myelopathy: is prevention better than cure?

Manifestations of primary hypoparathyroidism are produced by neuromuscular irritability or by extraosseous calcifications. We present a patient of primary hypoparathyroidism who had extensive calcification of brain parenchyma, and was suffering from chronic, generalised and progressive stiffness of body due to cervical compressive myelopathy, caused by calcification of posterior longitudinal ligament and ligamentum flavum. By presenting this case we wanted to emphasize the usefulness of meticulous clinical examination to differentiate the stiffness caused by myelopathy from that which is caused by possible coexisting extrapyramidal disorder.

A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India.

Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized by symptoms of extra-pyramidal dysfunction and accumulation of non-heme iron predominantly in the basal ganglia of the brain. In this study, we describe a familial case of PKAN from the State of Jammu and Kashmir (J&K), India based on the clinical findings and genetic screening of two affected siblings born to consanguineous normal parents. The patients present with early-onset, progressive extrapyramidal dysfunction, and brain Magnetic Resonance imaging (MRI) suggestive of symmetrical iron deposition in the globus pallidi.

Celiac Neuropathy: A Case Report from Kashmir (India).

Celiac disease is considered to be rare in parts of the world where rice is a staple cereal. Kashmir is one of such places. We present an adult Kashmiri man, who had peripheral neuropathy, which turned out to be associated with celiac disease and improved remarkably with total elimination of gluten containing foods.

Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.

We report identification and genetic characterization of a rare skeletal disorder that remained unidentified for decades in a village of Jammu and Kashmir, India. The population residing in this region is highly consanguineous and a lack of understanding of the disorder has hindered clinical management and genetic counseling for the many affected individuals in the region. We collected familial information and identified two large extended multiplex pedigrees displaying apparent autosomal recessive inheritance of an uncharacterized skeletal dysplasia.

"Peripheral neuropathy crippling bronchial asthma": two rare case reports of churg-strauss syndrome.

Churg-Strauss syndrome (CSS) is a rare cause of vasculitic neuropathy. Although rare and potentially fatal, Churg-Strauss syndrome (CSS) is easily diagnosable and treatable. The presence of bronchial asthma with peripheral neuropathy in a patient alerts a physician to this diagnosis.

"Excess gooD can be Dangerous". A case series of iatrogenic symptomatic hypercalcemia due to hypervitaminosis D.

Vitamin D is increasingly recognized to have several beneficial effects. Its toxicity, causing hypercalcemia, is considered as extremely rare. We report case series of 15 patients (most of them being elderly subjects) with iatrogenic symptomatic hypercalcemia in whom toxicity occurred due to empirical excessive administration of vitamin D by oral and parenteral route.

Active epilepsy as indicator of neurocysticercosis in rural northwest India.

Objective. To determine the contribution of neurocysticercosis as a cause for active epilepsy and to establish Neurocysticercosis as major definable risk of epilepsy in our setup. Methods.

Inbreeding as a cause for deafness: Dadhkai study.

Background: We report on the higher prevalence of deaf-mutes from a village in Jammu and Kashmir State of India.

Materials And Methods: A cross-sectional study among 79 deaf mutes using pedigree analysis, audiometry, imaging and molecular analysis.

Results: A high rate of hereditary deafness with 79 individuals diagnosed to be suffering from non-syndrome deafness in a total population of 2452 individuals residing in the village.

Prevalence of mental retardation among children in RS Pura town of Jammu and Kashmir.

Objective: To determine the Prevalence of mental retardation in children 3 to 10 years of age.

Materials And Methods: The study was conducted in the framework of a population based, single centre, cross-sectional study at R.S.

Prevalence of neurological disorders in children less than 10 years of age in RS Pura town of Jammu and Kashmir.

Objective: To determine the prevalence of major neurological disorders in children less than 10 years of age.

Materials And Methods: The study was conducted in the framework of a population based, single centre, cross-sectional study at Ranbir Singh Pura town, 22 km south-west of Jammu city.

Results: Eight cases of active epilepsy with a crude prevalence rate of 202 (95% confidence interval [CI] 180-220), five cases of Febrile seizures with a crude prevalence of 126 (95% CI 110-140) and eleven cases of cerebral palsy with a crude prevalence rate of 277 (95% CI 245-309) per 100,000 were found.

New-onset headache in an elderly man with uremia that improved only after correction of hyperphosphatemia ("uremic headache"): a case report.

Introduction: New-onset headaches in the elderly are usually secondary and rarely primary. We present the case of an elderly man with recent-onset headache due to uremic hyperphosphatemia and hypocalcemia. To the best of our knowledge, this is the first case report of its kind in the literature.

Prevalence of cerebral palsy in children < 10 years of age in R.S. Pura town of Jammu and Kashmir.

Objective: To determine the prevalence of cerebral palsy in children aged <10 years.

Methods: The study was conducted in the framework of a population-based, single-centre, cross-sectional surveillance at R.S.

Incidence of dementia in a Kashmiri migrant population.

Background: Mishriwala is one of five exclusive clusters of Kashmiri migrants established in 1990 to accommodate Kashmiri Pandit families who left Kashmir valley in the wake of militancy. Mishriwala migrant camp has seen minimal immigration and out-migration since its establishment. In an earlier study we reported on the prevalence of dementia amongst a Kashmiri migrant population.

Prevalence of dementia among Kashmiri migrants.

Background: Neurological diseases are common disorders resulting in the loss of productive life and disability. Dementia is becoming a major public health problem in the developing world also.

Aim: To ascertain the prevalence of dementia among Kashmiri Pandit population aged 60 years and above.

Diagnosis of intraventricular cysticercosis by magnetic resonance imaging: improved detection with three-dimensional spoiled gradient recalled echo sequences.

Neurocysticercosis (NCC) is caused when the cysticercus larvae of Taenia solium infect the central nervous system. The larvae usually land in the parenchymal tissue, but quite rarely can lodge in the ventricles and cisterns of the brain. Unlike parenchymal NCC, it is not easy to demonstrate the cysticercus cysts within the cerebrospinal fluid spaces.