Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.

Background: Neuronal ceroid lipofuscinoses (NCLs) are progressive, autosomal recessive lysosomal storage disorders primarily affecting children, marked by seizures, cognitive decline, motor regression, and visual impairment. Limited genetic data exist for South Asian populations, with most studies relying on enzymatic assays or electron microscopy. This study explores the genetic spectrum of NCL and genotype-phenotype correlations in a cohort from South India.

Clinicopathological Features of Amyloid Neuropathy: A Four Decade Experience.

Background: Peripheral neuropathy is one of the manifestations of primary or familial amyloidosis. Published studies from India are limited.

Materials And Methods: We reviewed the clinical and pathological features of amyloid neuropathy diagnosed at our Institute over the last 39 years.

Delineating the Spectrum of Pituitary Adenoma Based on the WHO 2017 Classification.

Background: The WHO 2017 classification of endocrine tumors incorporates lineage-specific transcription factors (TF) and hormone expression for the classification of pituitary adenoma (PA). There is paucity of reports describing the spectrum of PA based on this classification.

Objective: The aim of this study was to delineate the spectrum of PA based on WHO 2017 classification of endocrine tumors.

Gamut of Orbital Lesions in a Tertiary Neurocenter-A Clinicopathological Study of Lesions Seen Over a Period of One Decade.

Background: The orbital region is an anatomically complex area comprising crucial contiguous/adjacent structures. Since the eye has a neuroectodermal basis of embryogenesis, many of the lesions may be similar to those arising in the central nervous system.

Objective: To record and describe the clinicopathological spectrum of orbital lesions presenting to a neurology center.

Hereditary neuropathies: Genetics and utility of nerve biopsy.

Peripheral neuropathy is one of the most common neurological conditions of the nervous system. Hereditary neuropathies (HNs) form an important group with varying degrees of severity, causing a significant disease burden. Accurate diagnosis is essential for management, counseling, and preventing unnecessary extended workups for acquired etiologies and inappropriate treatment.

Basic requirements to establish a neuromuscular laboratory.

Histopathological analysis of muscle biopsy is a prerequisite in the evaluation of neuromuscular disorders, particularly inflammatory myopathies, metabolic myopathies, congenital myopathies, muscular dystrophies and differentiating myopathies and neurogenic disorders with overlapping clinically features. It not only provides useful information that helps in the diagnosis but also treatment and management. Fundamental skills and basic knowledge regarding handling, processing and analyzing a muscle biopsy are required in any specialized or a general pathology lab supporting neuromuscular clinical services.

Exploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma.

Introduction: Hypothalamic hamartoma (HH) is a rare developmental disorder presenting with gelastic seizures or precocious puberty attributed to gonadotrophin-releasing hormone expression by the hamartoma. The histogenesis of HH is uncertain, and diagnosis of HH is difficult in small biopsies due to its close resemblance to normal hypothalamic nuclei. TTF-1 and arginine vasopressin (AVP) are associated with gonadotropin-releasing hormone release.

Diagnostic Utility of CUSA Specimen in Histopathological Evaluation of Tumors of Central Nervous System.

Introduction: Cavitron Ultrasonic Surgical Aspirator (CUSA) is a technique used for the surgical treatment of tumors that aids the surgeon in highly selective tumor sampling with minimal injury to surrounding tissues. The utility of the tissue obtained from CUSA for histopathological diagnosis of central nervous system tumors is not as well-known as its surgical benefits. Even though a few studies have evaluated the diagnostic accuracy of CUSA specimen, these have dealt with very few cases.

Clinicopathological Study of Extra-Axial Small Round Cell Tumors of the Cranium.

Introduction: The cranium is a host to a variety of neoplasms and includes small round cell tumors (SRCTs) as an important malignant subset. Although SRCTs are histomorphologically similar, they are histogenetically diverse comprising of malignancies of epithelial, hematolymphoid, neuroectodermal, and mesenchymal origin.

Objective: The study aimed to review the clinical and pathological profile of cranial SRCTs.

Central nervous system high grade neuroepithelial tumor with BCOR immunopositivity: Is there a molecular heterogeneity?

Central nervous system high grade neuroepithelial tumor - BCOR altered is a newly defined entity which is characterised by internal tandem duplication (ITD) in exon 15 of BCOR. These tumors resemble high grade glioma histologically and exhibit BCOR immunopositivity. However, recently fusions of BCOR are also described in CNS lower grade gliomas, thus questioning the sensitivity and specificity of BCOR immunohistochemistry for identification of BCOR-ITD.

A Case of Ollier's Disease with P53 Mutation Positive and IDH1 (R132H) Negative Multicentric Gliomas.

Ollier disease is a rare nonhereditary disorder characterized by multiple enchondromas (enchondromatosis). To report a rare case of Ollier disease with gliomas and its mutation analysis. We hereby report a young lady who presented with seizures.

Appropriately Selected Nerve in Suspected Leprous Neuropathy Yields High Positive Results for DNA by Polymerase Chain Reaction Method.

Identification of DNA by polymerase chain reaction (PCR) is a reliable and an affordable method to confirm leprosy. DNA from 87 nerve samples (61 from paraffin blocks and 26 fresh samples) was extracted. DNA was amplified by PCR from 80/87 (92%) specimens.

Circle of Willis abnormalities and their clinical importance in ageing brains: A cadaveric anatomical and pathological study.

The circle of Willis (CW) located at the base of the brain forms an important collateral network to maintain adequate cerebral perfusion, especially in clinical situations requiring compensatory changes in blood flow. Morphopathological changes in the CW may relate to the severity of the symptoms of certain neurodegenerative and cerebrovascular disorders. The purpose of this study was to investigate the CW abnormalities and their clinical importance in ageing brains.

Evidence for Drug Resistance in a Large Cohort of Leprous Neuropathy Patients from India.

Resistance to anti-leprosy drugs is on the rise. Several studies have documented resistance to rifampicin, dapsone, and ofloxacin in patients with leprosy. We looked for point mutations within the folP1, rpoB, and gyrA gene regions of the genome predominantly in the neural form of leprosy.

Nonneoplastic Cystic Lesions of the Central Nervous System-Histomorphological Spectrum: A Study of 538 Cases.

A wide spectrum of non-neoplastic cystic lesions can occur in the central nervous system (CNS). These are uncommon, benign and of diverse aetiology, pathogenesis and clinical presentation.The spectrum of these lesion varies based on the location and in turn histogenesis.

Cerebellar Liponeurocytoma: A Rare Fatty Tumor and its Literature Review.

Cerebellar liponeurocytoma is a rare oncological entity, and the knowledge about the treatment and outcome of these rare tumors is still evolving. Very few cases have been described in literature. We report a middle-aged male who presented with raised intracranial pressure features and gait ataxia.

Brain and Spinal Cord Lesions in Leprosy: A Magnetic Resonance Imaging-Based Study.

Neurotropism and infiltration by of peripheral nerves causing neuropathy are well established, but reports of central nervous system (CNS) damage are exceptional. We report CNS magnetic resonance imaging (MRI) abnormalities of the brain and spinal cord as well as lesions in nerve roots and plexus in leprosy patients. Eight patients aged between 17 and 41 years underwent detailed clinical, histopathological, and MRI evaluation.

Transcriptome profiling reveals PDZ binding kinase as a novel biomarker in peritumoral brain zone of glioblastoma.

Purpose: Peritumoural brain zone (PT) of glioblastoma (GBM) is the area where tumour recurrence is often observed. We aimed to identify differentially regulated genes between tumour core (TC) and PT to understand the underlying molecular characteristics of infiltrating tumour cells in PT.

Methods: 17 each histologically characterised TC and PT tissues of GBM along with eight control tissues were subjected to cDNA Microarray.

Psammomatoid Juvenile Ossifying Fibroma: Report of Three Cases with a Review of Literature.

Psammomatoid juvenile ossifying fibroma (PJOF), a variant of juvenile ossifying fibroma (JOF), is a locally aggressive neoplasm of the children and young adults. This entity has predilection for the sinonasal region. It forms a differential diagnosis for many bone neoplasms.

Occipital Intraosseous Hemangioma over Torcula: Unusual Presentation with Raised Intracranial Pressure.

Background: Hemangiomas of the bone are benign, uncommon, slow-growing lesions accounting for <1.0% of all bony neoplasms. Intraosseous occipital hemangiomas are rare, and occipital hemangiomas presenting with features of raised intracranial tension are, with only 2 cases reported to date.

A simple algorithmic approach using histology and immunohistochemistry for the current classification of adult diffuse glioma in a resource-limited set-up.

Aims: The WHO 2016 classification of diffuse gliomas combines histological and molecular parameters for diagnosis. However, in view of cost constraints for molecular testing, an economical working formula is essential to reach a meaningful diagnosis in a resource-limited setting. The aim of this study was to establish a practical algorithmic approach using histology and immunohistochemistry (IHC) in the classification of diffuse gliomas in such a set-up.

Vascular Contributions in Alzheimer's Disease-Related Neuropathological Changes: First Autopsy Evidence from a South Asian Aging Population.

Background: Evidence from various consortia on vascular contributions has been inconsistent in determining the etiology of sporadic Alzheimer's disease (AD).

Objective: To investigate vascular risk factors and cerebrovascular pathologies associated in manifestation of AD-related neuropathological changes of an elderly population.

Methods: Postmortem brain samples from 76 elderly subjects (≥50 years) were used to study genetic polymorphisms, intracranial atherosclerosis of the circle of Willis (IASCW), and microscopic infarcts in deep white matters.

Rare pathologies in the posterior third ventricular region in children: case series and review.

Tumors of the pineal region in children often belong to 2 categories, namely germ cell tumors and pineal parenchymal tumors. Very rare pathologies have previously been reported in this region. Most of these tumors may be similar radiologically, while their management differs.

Solitary juvenile xanthogranuloma in cervical spine: case report and review of the literature.

Solitary juvenile xanthogranuloma (JXG) in the spinal column is extremely rare. Here, we report and characterize the case of xanthogranuloma of the upper cervical spine. A 18-year-old male presented with neck pain for 3 months, along with progressive quadriparesis and sensory loss of 2 months duration with urinary retention.