1,681 results match your criteria Clinical Neuropathology [Journal]


Corticosteroid-induced immunodeficiency in a patient with gliomatosis cerebri: Are corticosteroids indicated in all brain tumors?

Clin Neuropathol 2019 Apr 9. Epub 2019 Apr 9.

An elderly male was admitted to the Department of Neurology for slowly progressive dysarthria and right-sided atactic hemiparesis. Magnetic resonance imaging (MRI) revealed a small contrast-enhanced focus of malignant glioma in the left parietal lobe - with the growth pattern of cerebral gliomatosis - involving the whole left cerebral hemisphere, the corpus callosum, and spreading into the right frontal hemisphere. Diagnostic biopsy was deferred until the exclusion of other possible causes of the brain lesion. Read More

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http://dx.doi.org/10.5414/NP301167DOI Listing
April 2019
1 Read

Rosette-forming and papillary glioneuronal tumors - A clinicopathological and molecular analysis.

Clin Neuropathol 2019 Mar 22. Epub 2019 Mar 22.

Introduction: Rosette-forming glioneuronal tumors (RGNT) and papillary glioneuronal tumors (PGNT) account for < 1% of brain tumors. Genetic data regarding RGNT and PGNT is still evolving. We aimed to perform a detailed clinicopathological analysis on rosette-forming and papillary glioneuronal tumors and to evaluate these for common, known genetic mutations. Read More

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http://dx.doi.org/10.5414/NP301164DOI Listing
March 2019
1.311 Impact Factor

Endometrial glial polyp and peritoneal gliomatosis: Neuropathological lesions in gynecological biopsy.

Clin Neuropathol 2019 Mar 22. Epub 2019 Mar 22.

The wide scope of neuropathology is also connected to different systemic pathology findings. Neuroectodermal-type female genital tract lesions are not frequent. This article presents a short review of such entities in gynecological pathology and reports on two rare cases. Read More

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http://dx.doi.org/10.5414/NP301163DOI Listing
March 2019
1.311 Impact Factor

Metastasis of papillary thyroid carcinoma to the thoracic spine.

Clin Neuropathol 2019 Mar 22. Epub 2019 Mar 22.

Introduction: Papillary thyroid carcinoma (PTC) is the most common form of well-differentiated thyroid carcinoma. Despite its well-differentiated microscopic features, PTC may be minimally or overtly invasive. We present the case of a patient in whom thoracic spinal cord compression was the first presentation of metastatic PTC. Read More

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http://dx.doi.org/10.5414/NP301158DOI Listing
March 2019
1 Read

Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis.

Clin Neuropathol 2019 Mar 22. Epub 2019 Mar 22.

Congenital muscular dystrophy with laminin-α2 deficiency, also known as MDC1A, displays an extensive phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counseling. Here we report one individual from a family presenting with clinical features including seizure attack, slight weakness of proximal leg muscles, and mild cognitive impairment with increased small angular fibers, decreased expression of α-DG and β-DG, normal expression of laminin-α2, and severe white matter changes. Read More

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http://dx.doi.org/10.5414/NP301137DOI Listing
March 2019
6 Reads
1.311 Impact Factor

Clinical Neuropathology 2-2019.

Clin Neuropathol 2019 Mar/Apr;38(2):45-47

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http://dx.doi.org/10.5414/NPP38045DOI Listing
February 2019
1 Read

Clinical findings and autophagic pathology in neutral lipid storage disease with myopathy.

Clin Neuropathol 2019 Feb 10. Epub 2019 Feb 10.

Neutral lipid storage disease with myopathy (NLSDM) is a triglyceride metabolic disorder caused by defects of adipose triglyceride lipases (ATGL). The coexistence of lipid vacuoles and rimmed vacuoles in the myofibers is a characteristic pathological change in some NLSDM cases. However, it has not been explored whether autophagic abnormalities exist in the NLSDM myofibers with rimmed vacuole. Read More

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http://dx.doi.org/10.5414/NP301159DOI Listing
February 2019
3 Reads

Adult-onset SMALED2 due to a novel mutation presenting with asymmetrical lower limb involvement.

Clin Neuropathol 2019 Feb 10. Epub 2019 Feb 10.

Heterozygous variants in the bicaudal D homolog 2 gene () are associated with autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED2). This disease is usually characterized by congenital or early-onset muscle weakness and atrophy of the lower extremities with benign or slow progression. We herein described an autosomal dominant inherited pedigree with SMALED2 in which the affected individuals presented with late adult-onset muscle weakness and wasting in the lower extremities. Read More

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http://dx.doi.org/10.5414/NP301144DOI Listing
February 2019
1 Read

Osseous metaplasia of the pituitary gland with leukemia.

Clin Neuropathol 2019 Feb 10. Epub 2019 Feb 10.

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http://dx.doi.org/10.5414/NP301132DOI Listing
February 2019

Macrophagic scavenging of Aβ.

Clin Neuropathol 2019 Mar/Apr;38(2):48-50

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http://dx.doi.org/10.5414/NP301175DOI Listing
February 2019
2 Reads

Clinicopathologic features of incidental meningiomas: A review of the literature and the University of Rochester autopsy experience.

Clin Neuropathol 2019 Jan 28. Epub 2019 Jan 28.

Objective: Features of incidental meningiomas, found at autopsy, have not been extensively reported and may offer insight into their biology and management.

Design: Review of the literature on unsuspected incidental antemortem and postmortem meningiomas and those from autopsies, at the University of Rochester from 2005 to 2016.

Results: At autopsy, incidental meningiomas were usually found in 2 - 3% of cases. Read More

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http://dx.doi.org/10.5414/NP301160DOI Listing
January 2019

Blood-brain barrier dysfunction in a boxer with chronic traumatic encephalopathy and schizophrenia.

Clin Neuropathol 2019 Mar/Apr;38(2):51-58

Chronic traumatic encephalopathy (CTE) is a neurodegenerative condition characterized by the perivascular deposition of phosphorylated τ (p-τ) protein aggregates resulting from repetitive mild traumatic brain injury (rTBI). Advances in the field have revealed the significance of repetitive head trauma in the pathogenesis of CTE in contact sports as well as military veterans. In this study we provide evidence of blood-brain barrier (BBB) disruption in regions of intense perivascular p-τ deposition in a former professional boxer diagnosed with CTE and schizophrenia. Read More

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http://dx.doi.org/10.5414/NP301130DOI Listing
February 2019
3 Reads

Primary intracranial rhabdomyosarcoma in an NF1 patient.

Clin Neuropathol 2019 Mar/Apr;38(2):84-86

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http://dx.doi.org/10.5414/NP301133DOI Listing
February 2019
1 Read

Clinical Neuropathology 1-2019.

Clin Neuropathol 2019 Jan/Feb;38(1):1-3

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http://dx.doi.org/10.5414/NPP38001DOI Listing
April 2019
1 Read

Primary intradiploic epidermoid cyst: A case report with literature review.

Clin Neuropathol 2019 Jan/Feb;38(1):28-32

Primary intradiploic epidermoid cyst of the central nervous system (CNS) is a rare disease. More than 200 cases have been reported so far. The lesion can affect every flat bone of the cranium. Read More

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http://dx.doi.org/10.5414/NP301135DOI Listing
April 2019
2 Reads
1.311 Impact Factor

ATRX protein loss and deregulation of PI3K/AKT pathway is frequent in pilocytic astrocytoma with anaplastic features.

Clin Neuropathol 2019 Mar/Apr;38(2):59-73

Introduction: Pilocytic astrocytoma (PA) with anaplastic features (PAAF) is a rare entity associated with decreased survival. It is characterized by hypercellularity, atypia, brisk mitotic activity, variable necrosis, and association with a classic PA component or anaplastic transformation in a recurrent tumor with a previously-documented classic PA.

Materials And Methods: We present 5 PAAF cases with clinical, radiological, pathological, and molecular correlation. Read More

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http://dx.doi.org/10.5414/NP301105DOI Listing
February 2019
5 Reads

Solitary fibrous tumor/hemangiopericytoma of the optic canal.

Clin Neuropathol 2019 Mar/Apr;38(2):74-79

Solitary fibrous tumor/hemangiopericytoma seldom arises from the optic nerve sheath. Herein, we describe the clinical, radiological, and histological findings of a solitary fibrous tumor/hemangiopericytoma arising from the optic nerve sheath and occupying the optic canal. The diagnosis is challenging both clinically and histologically as it clinically simulates a commoner lesion, i. Read More

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http://dx.doi.org/10.5414/NP301127DOI Listing
February 2019
3 Reads

Argyrophilic grain disease presenting as behavioral frontotemporal dementia.

Clin Neuropathol 2019 Jan/Feb;38(1):8-13

Argyrophilic grain disease (AgD) is a frequent late-onset 4R tauopathy of old age characterized by the presence of profuse spindle-shaped argyrophilic grains (AGs). It is a neurodegenerative disorder that is clinically characterized by a slow progressive amnestic mild cognitive impairment similar to Alzheimer's disease. In rare instances, it is characterized as a behavioral-variant frontotemporal dementia (bv-FTD). Read More

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https://www.dustri.com/index.php?id=8&artId=17761&do
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http://dx.doi.org/10.5414/NP301122DOI Listing
April 2019
11 Reads

Advancing brain tumor epidemiology - multi-level integration and international collaboration: The 2018 Brain Tumor Epidemiology Consortium meeting report.

Clin Neuropathol 2018 Nov/Dec;37(6):254-261

The Brain Tumor Epidemiology Consortium (BTEC) is an international consortium that aims to foster multicenter and inter-disciplinary collaborations that focus on research related to the etiology, outcomes, and prevention of brain tumors. The 19th annual BTEC meeting was held in Copenhagen, Denmark, on June 19 - 21, 2018. The meeting focused on forming international collaborations and integrating multiple data types for the next generation of studies in brain tumor epidemiology. Read More

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http://dx.doi.org/10.5414/NP301148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350238PMC
February 2019
1 Read
1.311 Impact Factor

Neuropolypathology as a result of severe traumatic brain injury?

Clin Neuropathol 2019 Jan/Feb;38(1):14-22

A history of brain trauma has long been acknowledged as increasing an individual's risk of developing dementia in later life. The underlying mechanisms that belie this pre-disposition are, however, very poorly understood. Here, we report a clinical-neuropathological correlation of a man who presented at the age of 66 with a progressive complex atypical dementia with early and prominent neurobehavioral symptoms. Read More

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http://dx.doi.org/10.5414/NP301131DOI Listing
April 2019
2 Reads

Capillary hemangioma involved in filar lipoma: A case report.

Clin Neuropathol 2019 Jan/Feb;38(1):33-37

Filar lipomas are a subtype of spinal lipomas wherein adipose tissue accumulation is restricted to the filum terminale. Embryologically, filar lipomas are considered to occur because of the failure of secondary neurulation, although the precise mechanism is not yet completely understood. Involvement of ectopic mesodermal, ectodermal, and endodermal tissues in spinal lipomas has been occasionally reported, and the origin of these ectopic tissues has been supposed to be migration of pluripotent tissues, which exist during secondary neurulation. Read More

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http://dx.doi.org/10.5414/NP301117DOI Listing
April 2019
5 Reads

A rare case of diffuse intracranial aspergillosis masquerading as skull base meningioma in an immunocompetent patient.

Clin Neuropathol 2019 Jan/Feb;38(1):23-27

Intracranial aspergillosis is rare in immunocompetent patients. Its presentation is subtle, often without any diagnostic characteristics, and is frequently mistaken for tuberculous meningitis, pyogenic abscess, or a space-occupying lesion. The authors report a case of diffuse intracranial aspergillosis, in an immunocompetent 34-year-old male, that mimicked a meningioma on preoperative imaging. Read More

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http://dx.doi.org/10.5414/NP301106DOI Listing
April 2019
15 Reads

A rare case of osteochondroma of the coccyx.

Clin Neuropathol 2019 Jan/Feb;38(1):38-40

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http://dx.doi.org/10.5414/NP301107DOI Listing
April 2019
4 Reads

Synaptic plexi of U-fibre layer beneath focal cortical dysplasias: Role in epileptic networks.

Clin Neuropathol 2018 Nov/Dec;37(6):262-276

Aims: The purpose is to demonstrate heterotopic neurones and their synaptic plexi within the U-fibre layer beneath focal cortical dysplasias (FCD).

Materials And Methods: This prospective qualitative neuropathological study included 23 patients, ages from 3 months to 17 years: resections at epileptogenic foci in 10 FCD Ia; 6 FCD IIa,b; 2 FCD IIIa,d; 3 HME; 2 TSC; 8 controls.

Techniques: immunoreactivities for synaptophysin, NeuN, MAP2, SMI32, calretinin, GFAP, vimentin, α-B-crystallin. Read More

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https://www.dustri.com/index.php?id=8&artId=17627&do
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http://dx.doi.org/10.5414/NP301103DOI Listing
February 2019
14 Reads

Chondroblastoma of frontal bone: A tumor in an unusual location in a young child.

Clin Neuropathol 2018 Nov/Dec;37(6):288-291

Chondroblastomas are benign tumors of the osteoarticular system, involving long bones of skeletally immature individuals. Chondroblastomas of skull and facial bones are rare, with a predilection for temporal bone. We report the second case of chondroblastoma of frontal bone in world literature in an 8-year-old boy who presented with a painless swelling on the left side of the forehead increasing in size over 1 year. Read More

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https://www.dustri.com/index.php?id=8&artId=17598&do
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http://dx.doi.org/10.5414/NP301114DOI Listing
February 2019
23 Reads

Ultrastructural changes in microvessels in familial hemiplegic migraine with mutation.

Clin Neuropathol 2018 Nov/Dec;37(6):283-287

Aims: Familial hemiplegic migraine type 1 (FHM1) due to mutations in the gene is known as functional vascular disorder with cerebellar atrophy. We describe a case of a FHM1 family in which pathological changes occurred in both brain neuroimaging and skin and muscle biopsy.

Materials And Methods: In 5 of 18 affected family members, brain MRI scans revealed hyperintense changes in the cerebral white matter. Read More

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https://www.dustri.com/article_response_page.html?artId=1756
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http://dx.doi.org/10.5414/NP300619DOI Listing
February 2019
13 Reads

Distinct pattern of neostriatal calcifications in dyskeratosis congenita: A case report and literature review.

Clin Neuropathol 2018 Nov/Dec;37(6):277-282

Dyskeratosis congenita (DKC) is a rare, inherited disorder classically known by the triad of nail dystrophy, mucosal leukoplakia, and lacy reticulated skin hyperpigmentation. Bone marrow failure is a prominent feature and accounts for most deaths in these patients. Genetic mutations resulting in shortened telomeres have been shown to cause DKC, which is the basis for categorizing it as a "premature aging syndrome". Read More

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http://dx.doi.org/10.5414/NP301088DOI Listing
February 2019
3 Reads

Tumor cell vanishing with radiological changes suggesting progression in IDH-mutated diffuse astrocytoma treated only with surgery.

Clin Neuropathol 2018 Sep/Oct;37(5):217-220

The radiological diagnosis of glioma progression is still challenging. A 33-year-old woman diagnosed with a frontal tumor underwent awake craniotomy with total tumor resection. The diagnosis was IDH-mutated diffuse astrocytoma, WHO grade II. Read More

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http://dx.doi.org/10.5414/NP301116DOI Listing
January 2019
1 Read

Sulfonylurea receptor 1 expression is variable in adult and pediatric brain tumors.

Clin Neuropathol 2018 Sep/Oct;37(5):221-227

Introduction: Edema is a significant cause of neuromorbidity in children and adults with brain tumors. Agents used to control this effect, such as corticosteroids, have their own associated morbidities. Sulfonylurea receptor 1 (SUR1) is a transmembrane protein that regulates the activity of ion channels in neurons, glia, and endothelial cells. Read More

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http://dx.doi.org/10.5414/NP301102DOI Listing
January 2019
5 Reads

Delayed inflammatory leukoencephalopathy after gastric bypass surgery.

Clin Neuropathol 2018 Sep/Oct;37(5):228-231

We describe an unusual leukoencephalopathy in a female who developed global language and memory difficulties as well as diffuse FLAIR lesions in the cerebral white matter (WM) ~ 30 months after bariatric surgery. She had no detectable nutritional deficiency. She died suddenly due to cardiovascular disease. Read More

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http://dx.doi.org/10.5414/NP301100DOI Listing
January 2019
19 Reads

HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.

Clin Neuropathol 2018 Sep/Oct;37(5):232-238

Mitochondrial trifunctional protein deficiency (MTPD) is a rare disorder caused by mutations in the HADHA and HADHB genes. Here, we report on two Han Chinese patients with HADHB mutation-associated infantile axonal Charcot-Marie-Tooth disease (IACMT). Both patients were unrelated. Read More

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http://dx.doi.org/10.5414/NP301097DOI Listing
January 2019
23 Reads

Topography of hemispheric white matter pathology in ten cases of neuronal intermediate filament inclusion disease.

Clin Neuropathol 2018 Sep/Oct;37(5):239-244

Aims: To characterize the topography of white matter pathology in neuronal intermediate filament inclusion disease (NIFID), a rare subtype of frontotemporal lobar degeneration (FTLD) with "fused in sarcoma" (FUS)-immunoreactive inclusions.

Material And Methods: Fiber tracts from frontal and temporal lobes of 10 cases of NIFID.

Method: Spatial patterns of the vacuolation, glial cell nuclei, and glial inclusions (GI) were studied across cortical fiber tracts from each case. Read More

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http://dx.doi.org/10.5414/NP301079DOI Listing
January 2019
3 Reads

Molecular diagnostic testing of diffuse gliomas in the real-life setting: A practical approach.

Clin Neuropathol 2018 Jul/Aug;37(4):166-177

Typing of diffuse gliomas according to the WHO 2016 Classification of Tumors of the Central Nervous System is based on the integration of histology with molecular biomarkers. However, the choice of appropriate methods for molecular analysis and criteria for interpretation of test results is left to each diagnostic laboratory. In the present study, we tested the applicability of combined immunohistochemistry, direct sequencing, and multiplex ligation-dependent probe amplification (MLPA) for diagnostic assessment of IDH1/2 mutation status, chromosome 1p/19q status, and TERT promoter mutations. Read More

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http://dx.doi.org/10.5414/NP301110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102559PMC
November 2018
5 Reads

Cerebellar high-grade gliomas do not present the same molecular alterations as supratentorial high-grade gliomas and may show histone H3 gene mutations.

Clin Neuropathol 2018 Sep/Oct;37(5):209-216

Numerous molecular alterations have been described in supratentorial high-grade gliomas (1p19q co-deletion, IDH1/2, histone H3, hTERT promotor mutations, loss of ATRX) which have led to a new histomolecular classification of diffuse gliomas. We aimed at describing these alterations in a series of 19 adults with pure cerebellar high-grade gliomas. Systematic immunohistochemical analyses, including that of IDH1R132H, ATRX, p53, PTEN, EGFR, p16, FGFR3, BRAFV600E, mismatch repair proteins, H3K27me3, H3K36me3, and H3K27M; molecular analyses of IDH1/2, hTERT, BRAF, H3F3A, and HIST1H3B mutation hotspots; and EGFR, PTEN FISH were retrospectively performed in a multicentric study. Read More

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http://dx.doi.org/10.5414/NP301104DOI Listing
January 2019
8 Reads

A newly diagnosed case of polymorphous low-grade neuroepithelial tumor of the young.

Clin Neuropathol 2018 Jul/Aug;37(4):178-181

Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a recently described variant of low-grade neuroepithelial tumors that exhibits infiltrative growth, histopathological variability with frequently prominent oligodendroglioma-like components, intense labeling for CD34, absence of 1P/19Q codeletion, a distinct DNA methylation signature and genetic alterations involving MAP kinase pathway constituents of either the B-Raf proto-oncogene BRAF or fibroblast growth factor receptors 2 or 3 (FGFR2 and FGFR3). We here report a newly diagnosed case of PLNTY involving the temporal lobe in a 31-year-old man with chronic focal epilepsy. This tumor had histologic and immunophenotypic features similar to the recently described PLNTY and proved BRAF V600E mutant. Read More

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http://dx.doi.org/10.5414/NP301081DOI Listing
November 2018
13 Reads

Focal myositis with neurogenic atrophy: A case report.

Clin Neuropathol 2018 Jul/Aug;37(4):186-189

Focal myositis is a very rare form of inflammatory myopathy, with unknown etiology. We describe a 44-year-old previously healthy man who noticed a painless swelling on his left forearm, following trauma over the left cubital fossa. The swelling grew progressively over 2 years. Read More

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http://dx.doi.org/10.5414/NP301082DOI Listing
November 2018
7 Reads

A 3-year old female with an atypical pineal tumor.

Clin Neuropathol 2018 May/Jun;37(3):156-158

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http://dx.doi.org/10.5414/NP301086DOI Listing
September 2018
7 Reads

Absence of 1p/19q codeletion in oligodendroglioma-like areas of pilocytic astrocytomas.

Clin Neuropathol 2018 Jul/Aug;37(4):182-185

The presence of oligodendroglioma-like areas in pilocytic astrocytoma may give rise to pathologic diagnostic uncertainty. This study aims to determine if the oligodendroglioma-like areas present in some pilocytic astrocytomas (PA) possess the signature 1p/19q codeletion that is characteristic of classical oligodendroglioma. Array comparative genomic hybridization was carried out on 12 PA samples, from which oligodendroglioma-like areas were microdissected and used as the template DNA source. Read More

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http://dx.doi.org/10.5414/NP301062DOI Listing
November 2018
6 Reads

The Dejerine Foundation.

Clin Neuropathol 2018 Jul/Aug;37(4):193-196

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http://dx.doi.org/10.5414/NP301095DOI Listing
November 2018
5 Reads

Reactive gliosis mimicking tumor recurrence - a case series documenting MRI abnormalities and neuropathological correlates.

Clin Neuropathol 2018 May/Jun;37(3):97-104

The aim of this study is to identify, in our center, all cases of foreign-body reactions to hemostatic agents or other prostheses resulting in a radiological suspicion of tumor recurrence. We interrogated our internal database to identify all such cases and systematically evaluated the MRI brain scans of patients: (i) at the time of initial tumor diagnosis, (ii) postoperatively, (iii) and at the time of suspected tumor recurrence. In addition, we reviewed each patient's operative notes and reviewed the histology of all cases following a second surgical intervention. Read More

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http://dx.doi.org/10.5414/NP301084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104493PMC
September 2018
5 Reads