Myxomatous cause of multiple intracranial aneurysms and cognitive decline: a case report.

Background: The occurrence of cerebral aneurysm in a case of cardiac myxoma is rare with less than 60 cases reported worldwide. The course of management is still debatable given its rarity. We present a case of multiple intracranial aneurysms secondary to atrial myxoma in a young lady with a brief review of the literature.

Asplenia in left isomerism.

Anatomical configurations where the viscero-atrial structures do not follow the usual arrangement or mirror-imaged arrangement is described conventionally as heterotaxy. Isomerism in the context of the congenitally malformed heart is a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other. It encompasses two separate entities, right and left isomerism, the former being usually associated with asplenia and the latter with polysplenia.

Clinical Reasoning: A Teenager With Chronic Meningitis-Does Occam's Razor Apply?

A 14-year-old girl presented with subacute onset headache, fever, and vomiting and was managed initially with antibiotics for suspected bacterial meningitis. Her symptoms further evolved over the next few weeks with systemic signs and symptoms favoring chronic meningitis with raised intracranial pressure. After the etiologic workup was unrevealing, she was started on empirical antituberculous therapy.

Rapid malignant transformation of an intracranial epidermoid cyst: Report of a case.

Intracranial epidermoid cysts (ECs) occur at various locations along the neuraxis and account for nearly 2% of all intracranial tumors. Considering the frequency of ECs, transformation of ECs into squamous cell carcinomas is a rare occurrence. Here, we report the case of a 39-year-old man who presented with a lesion in the left cerebellopontine angle and underwent gross total resection for the same.

Nonneoplastic and noninfective cysts of the central nervous system: A histopathological study.

Nonneoplastic epithelial cysts involving the central nervous system are diverse and are predominantly developmental in origin. This study represents a surgical series describing the histopathological features of 507 such epithelial cysts with clinical and imaging correlation. Age at surgery ranged from 7 months to 72 years (mean: 33 years) affecting 246 male and 261 female patients.

Role of skin punch biopsy in diagnosis of small fiber neuropathy-A review for the neuropathologist.

Over the last three decades, skin punch biopsy has become the gold standard for diagnosis of small fiber neuropathies, including autonomic neuropathies commonly seen in diabetics, patients with HIV, and children with hereditary sensory autonomic neuropathies and toxin-induced neuropathy. Clinical, biochemical, electrophysiological tests are inconclusive, making it difficult to diagnose and initiate treatment. A skin punch biopsy is easy to perform in the outpatient clinic, is highly sensitive, and provides an objective diagnosis.

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update.

Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration. Congenital muscular dystrophies (CMD) include dystroglycanopathies, merosin-deficient CMD, collagen VI-deficient CMD, SELENON-related rigid spine muscular dystrophy, and LMNA-related CMD.

Glioblastoma with primitive neuronal component: An immunohistochemical study and review of literature.

Glioblastoma with primitive neuronal component, a rare neoplasm, is recognized as a distinct histological pattern of glioblastoma. In this study we report the morphological and immunohistochemical features of three cases of glioblastoma with primitive neuronal component diagnosed at the Institute along with a comprehensive literature review. The cases include: (1) 11-year-old girl with right fronto-parietal lesion, (2) 48-year-old male with right parietal lesion, and (3) 36-year-old male with left fronto-parietal lesion.

Mosaic Pattern of H3 K27M-Mutant Protein Expression in a Diffuse Midline Glioma-A Diagnostic Dilemma for the Pathologist.

Diffuse midline glioma, H3 K27M-mutant, is a World Health Organization (WHO) grade IV glioma arising in pons, thalamus, and spinal cord. They show mutations resulting in replacement of lysine at position 27 by methionine (K27M) of histone genes, , and The H3 K27M mutant protein is identified in tumor tissue by immunohistochemistry. As these mutations are clonal and homogeneous, the mutant protein is normally identified in all tumor cells.

Meningioma with rosettes: A rare morphologic pattern.

We describe a case of WHO grade I transitional meningioma with rosettes in a 68-year-old woman. The rosettes were composed of meningothelial cells arranged around dense collagenous cores. Even though the presence of rosettes in tumors of the brain and spinal cord is an indication of neuronal or ependymal differentiation, they are also known to occur in tumors of other lineages.

DNA alteration-based classification of uveal melanoma gives better prognostic stratification than immune infiltration, which has a neutral effect in high-risk group.

Background: In uveal melanomas, immune infiltration is a marker of poor prognosis. This work intended to decipher the biological characteristics of intra-tumor immune population, compare it to other established biomarkers and to patients' outcome.

Methods: Primary, untreated, and mainly large uveal melanomas with retinal detachment were analyzed using: transcriptomic profiling (n = 15), RT-qPCR (n = 36), immunohistochemistry (n = 89), Multiplex Ligation-dependent Probe Amplification (MLPA) for copy number alterations (CNA) analysis (n = 89), array-CGH (n = 17), and survival statistics (n = 86).

Renal cell carcinoma associated with granulomatous reaction.

Granulomatous inflammation is a distinctive pattern of chronic inflammatory reaction characterized by accumulation of epithelioid histiocytes and multinucleate giant cells. The cause of granulomas can be infectious or non-infectious. Granulomas have been described within the stroma of malignancies like carcinomas of the breast and colon, seminoma and Hodgkin's lymphoma, where they represent T-cell-mediated reaction of the tumor stroma to antigens expressed by the tumor.

Carcinoma of gall bladder presenting as dermatomyositis.

Cancer-related muscle diseases are usually paraneoplastic disorders. Dermatomyositis (DM) is a type of inflammatory myopathy that is strongly associated with a broad range of malignant disorders. The malignancy can occur before, concomitantly or after the onset of myositis.

IDH1 mutation, a genetic alteration associated with adult gliomatosis cerebri.

Recently, mutations in IDH1 and IDH2 have been reported as an early and common genetic alteration in diffuse gliomas, being possibly followed by 1p/19q loss in oligodendrogliomas and TP53 mutations in astrocytomas. Lately, IDH1 mutations have also been identified in adult gliomatosis cerebri (GC). The aim of our study was to test the status of IDH1/2, p53 and of chromosomes 1 and 19 in a series of 12 adult and three pediatric GC.

Pediatric tumors of the central nervous system: a retrospective study of 1,043 cases from a tertiary care center in South India.

Objective: The objective of this study is to describe the age, sex, location, and histopathology of pediatric tumors of the central nervous system diagnosed at a tertiary care center in South India.

Patients And Methods: One thousand forty-three tumors that occurred in children between 0 and 18 years of age diagnosed between 1 January 1990 and 31 December 2004 were reclassified according to the WHO 2007 classification, and the clinical data were analyzed.

Results: The mean age at diagnosis was 10.