Publications by authors named "Nandeesh Bn"

Purpose: Melanotic neuroectodermal tumor of infancy (MNTI) is a rare, rapidly growing pigmented neoplasm originating from the neural crest. Predominantly affecting infants, it commonly occurs in the head and neck region. MNTI is often locally aggressive with a high recurrence rate.

View Article and Find Full Text PDF

Background: Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. variants cause varied phenotypic presentations.

Case Report: A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia.

View Article and Find Full Text PDF
Article Synopsis
  • * Two pediatric cases presented with invasive tumors affecting the skull base and upper spine, showing unique cell morphology and specific immunohistochemical markers, leading to a diagnosis of PDC.
  • * The study emphasizes the importance of understanding PDC's clinical and histological characteristics to improve diagnostic accuracy and awareness.
View Article and Find Full Text PDF

Background: The objective was to study the effectiveness and diagnostic outcome of frame-based stereotactic brain biopsy (STB) done for contrast non-enhancing lesions using indirect evidence of target selection observed in a plain computed tomography (CT) scan of the head.

Methods: Data of patients with contrast non-enhancing brain lesions who underwent STB are collected retrospectively from NIMHANS Bangalore, hospital neurosurgery database from January 2021 to March 2023. Those cases subjected to plain CT scans after fixing the stereotactic frame to the head were included in the study.

View Article and Find Full Text PDF
Article Synopsis
  • Eosinophilic angiocentric fibrosis (EAF) is a rare, benign condition that typically affects the sinonasal and upper respiratory tract, with very few cases occurring in the brain.
  • The report details a case of a 55-year-old man who was initially misdiagnosed with meningioma due to similar clinical and imaging features but was confirmed to have EAF after surgical examination.
  • This case highlights the importance of considering EAF in the diagnosis of brain lesions that resemble meningiomas, emphasizing the need for thorough histopathological evaluation for accurate diagnosis and treatment.
View Article and Find Full Text PDF

Introduction: Nuclear envelopathies occur due to structural and/or functional defects in various nuclear envelope proteins such as lamin A/C and lamin related proteins. This study is the first report on the phenotype-genotype patterns of nuclear envelopathy-related muscular dystrophies from India.

Methods: In this retrospective study, we have described patients with genetically confirmed muscular dystrophy associated with nuclear envelopathy.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Background: Congenital myopathies (CMs) are a diverse group of inherited muscle disorders with broad genotypic and phenotypic heterogeneity. While the literature on CM is available from European countries, comprehensive data from the Indian subcontinent is lacking.

Objectives: This study aims to describe the clinical and histopathological characteristics of a cohort of genetically confirmed CMs from India and attempts to do phenotype-genotype correlation.

View Article and Find Full Text PDF

Background And Aims: Waldenstroms macroglobulinemia (WM) is a low-grade B cell neoplasm. Bing Neel syndrome is a rare manifestation of WM characterized by infiltrative involvement of the central nervous system.

Case Report: 64-year-old man, presented with 4 years history of slowly progressive diplopia and ptosis of eyes.

View Article and Find Full Text PDF

  -related myopathy is one of the rare forms of slowly progressive myopathy observed in males. Till now, there have been only a handful of reports, mainly from Europe and America, and two reports from India.  Here, we describe a case of genetically confirmed -associated myopathy with clinical, histopathological, and imaging features with a list of known VMA21 mutations.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Background And Objectives: Distal myopathies are a heterogeneous group of primary muscle disorders with recessive or dominant inheritance. is a muscle-specific adenylosuccinate synthase isoform involved in adenine nucleotide synthesis. Recessive pathogenic variants in the gene located in chromosome 14q32.

View Article and Find Full Text PDF

Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis.

View Article and Find Full Text PDF

Combined oxidative phosphorylation deficiency type 53 (COXPD53) is an autosomal recessive neurodevelopmental disorder (NDD) caused by homozygous variants in the gene C2orf69. Here, we report a novel frameshift variant c.187_191dupGCCGA, p.

View Article and Find Full Text PDF

Background: The phenotypic spectrum of Fukutin-related protein (FKRP) mutations is highly variable and comprises of limb girdle muscular dystrophy (LGMD) R9 (previously LGMD 2I) and FKRP related congenital muscular dystrophies.

Objective: To identify the distinct genotype phenotype pattern in Indian patients with FKRP gene mutations.

Methods: We retrospectively reviewed the case files of patients with muscular dystrophy having a genetically confirmed FKRP mutation.

View Article and Find Full Text PDF

Primary diffuse leptomeningeal primitive neuroectodermal tumor is a rare meningeal neoplasm which can masquerade as chronic meningitis. While the clinical presentation and radiological features may provide a clue to this condition, meningeal biopsy is essential to clinch the diagnosis. A high index of suspicion and a low threshold for re-evaluating cases of neuroinfection that do not respond to empirical therapy are essential in this scenario.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Infections constitute an important and common category of diseases, particularly in less developed countries. Infections present with a broad spectrum of clinical and radiologic features dictated by the cell and tissue tropism and host response elicited, posing a considerable diagnostic challenge. Early diagnosis and treatment are crucial in preventing mortality and morbidity.

View Article and Find Full Text PDF

Background And Objectives: Thymic pathology is common in Myasthenia Gravis(MG) and plays a crucial role in its pathogenesis and clinical outcome. This study aims to discuss the clinicohistopathological spectrum of thymic lesions in MG.

Methods: In this retrospective study, MG patients who underwent thymectomy from 2011 to 2020 were included.

View Article and Find Full Text PDF
Article Synopsis
  • - The report details the first known case of a brain abscess linked to COVID-19, caused by a rare type of fungus in a diabetic patient who had received corticosteroid treatment.
  • - The patient needed surgery to remove the abscess, and the pus sample initially led to misidentification of the fungus due to limitations in the identification system used.
  • - Accurate identification was eventually achieved through a specialized genetic testing method, and the patient recovered well after receiving surgery and antifungal medication.
View Article and Find Full Text PDF