Clinical Neuropathology 2-2019.
Abstract PMID: 30771805 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - February 17, 2019 Category: Pathology Authors: Hainfellner JA Tags: Clin Neuropathol Source Type: research

Osseous metaplasia of the pituitary gland with leukemia.
Abstract PMID: 30738492 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - February 10, 2019 Category: Pathology Authors: Shen M, Prayson R Tags: Clin Neuropathol Source Type: research

Adult-onset SMALED2 due to a novel BICD2 mutation presenting with asymmetrical lower limb involvement.
Abstract Heterozygous variants in the bicaudal D homolog 2 gene (BICD2) 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. Obviously asymmetrical involvement of the lower limbs was observed in 3 individuals. Muscle ma...
Source: Clinical Neuropathology - February 10, 2019 Category: Pathology Authors: Wan C, Wang Y, Zhou Q, Yu Y, Hong D, Zhu M Tags: Clin Neuropathol Source Type: research

Clinical findings and autophagic pathology in neutral lipid storage disease with myopathy.
Abstract 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. Herein, we report that 5 patients with NLSDM initially presented with muscle weakness in the right arm related to long-term physical efforts, then developed muscle weakness of other limbs. Pathogenic mutations in the...
Source: Clinical Neuropathology - February 10, 2019 Category: Pathology Authors: Hong D, Zheng J, Xin L, Xiang Y, Luan X, Cao L, Cong L, Fang P, Zhang J Tags: Clin Neuropathol Source Type: research

Teaching case 2-2019: Macrophagic scavenging of A β.
Teaching case 2-2019: Macrophagic scavenging of Aβ. Clin Neuropathol. 2019 Feb 01;: Authors: Gelpi E, Klotz S, Lang A, Stögmann E, Kovacs GG Abstract PMID: 30704554 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - February 1, 2019 Category: Pathology Authors: Gelpi E, Klotz S, Lang A, Stögmann E, Kovacs GG Tags: Clin Neuropathol Source Type: research

Clinicopathologic features of incidental meningiomas: A review of the literature and the University of Rochester autopsy experience.
CONCLUSION: Incidental meningiomas are a relatively common unrecognized tumor. They are more likely to be in males, WHO grade I, parasellar, and with calcification.
. PMID: 30686285 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - January 28, 2019 Category: Pathology Authors: Johnson MD, Abu-Farsakh S Tags: Clin Neuropathol Source Type: research

Blood-brain barrier dysfunction in a boxer with chronic traumatic encephalopathy and schizophrenia.
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. P-τ deposition was associated with loss of the tight junction protein claudin-5 and enhanced extravasation of endogenous blood components such as fibrinogen and IgG. We also provide evidence of tight junction disruption in individuals with schizophrenia, with discontinuous claudin-5 immunoreactivity in the parietal cortex. This data highlights a common phenotype of a dysfunctional BBB in individuals with CTE and schizophrenia...
Source: Clinical Neuropathology - December 21, 2018 Category: Pathology Authors: Farrell M, Aherne S, O'Riordan S, O'Keeffe E, Greene C, Campbell M Tags: Clin Neuropathol Source Type: research

Clinical Neuropathology 1-2019.
Abstract PMID: 30563610 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - December 19, 2018 Category: Pathology Authors: Hainfellner JA Tags: Clin Neuropathol Source Type: research

Fetal cerebral malakoplakia associated with recurrent facial erysipelas of the mother.
ic H Abstract PMID: 30563611 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - December 19, 2018 Category: Pathology Authors: Myrmel Sæle AK, Bakke KH, Lindemann PC, Leiva RA, Collett K, Miletic H Tags: Clin Neuropathol Source Type: research

Primary intracranial rhabdomyosarcoma in an NF1 patient.
Abstract PMID: 30563612 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - December 19, 2018 Category: Pathology Authors: de Leeuw CN, Prayson RA Tags: Clin Neuropathol Source Type: research

Case of the month 1-2019: CNS high-grade neuroepithelial tumor with BCOR alteration.
Abstract PMID: 30526817 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - December 11, 2018 Category: Pathology Authors: Haberler C, Reiniger L, Rajnai H, Kalev O, Gelpi E, Tamesberger M, Pietsch T Tags: Clin Neuropathol Source Type: research

Primary intradiploic epidermoid cyst: A case report with literature review.
We reported a 61-year-old female with giant primary intradiploic epidermoid cyst in the parietal bone. Surgical resection was performed. The patient recovered well with no complication nor neurologic dysfunction. A literature review of the disease will also be presented here.
. PMID: 30526818 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - December 11, 2018 Category: Pathology Authors: Ma J, Jia G, Jia W Tags: Clin Neuropathol Source Type: research

Solitary fibrous tumor/hemangiopericytoma of the optic canal.
Abstract 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.e., an optic nerve sheath meningioma, and histological features can be mistaken for a fibroblastic/transitional meningioma. Differentiating these lesions from meningioma is crucial both for therapeutic and prognostic reasons. M...
Source: Clinical Neuropathology - November 30, 2018 Category: Pathology Authors: Singh V, Gupta K, Singh AP, Salunke P Tags: Clin Neuropathol Source Type: research

ATRX protein loss and deregulation of PI3K/AKT pathway is frequent in pilocytic astrocytoma with anaplastic features.
CONCLUSION: We confirm ATRX protein loss suggestive of ATRX alteration as well as dysregulation of the PI3K/AKT pathway and, less often, of the MAPK/ERK pathway in PAAF.
. PMID: 30499772 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - November 30, 2018 Category: Pathology Authors: Olar A, Tran D, Mehta VP, Reinhardt A, Manekia JH, Garnovskaya M, Ellezam B, Luthra R, Sulman EP, Mohila CA, Campbell GA, Powell SZ, Fuller GN, Aldape KD, Adesina AM Tags: Clin Neuropathol Source Type: research

Argyrophilic grain disease presenting as behavioral frontotemporal dementia.
In this study, we report a case with typical clinical and neuroimaging features of bv-FTD, who had autopsy findings consistent with a definitive diagnosis of AgD. We suggest that AgD might be included in the differential diagnosis of patients presenting with bv-FTD.
. PMID: 30415651 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - November 12, 2018 Category: Pathology Authors: Gil MJ, Serrano S, Manzano MS, Cuadrado ML, Góméz E, Rábano A Tags: Clin Neuropathol Source Type: research

Advancing brain tumor epidemiology - multilevel integration and international collaboration: The 2018 Brain Tumor Epidemiology Consortium meeting report.
Abstract 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. The next BTEC meeting will be held in Southern California in June 2019.
. PMID: 30343678 [PubMed - as supplied b...
Source: Clinical Neuropathology - October 22, 2018 Category: Pathology Authors: Johnson KJ, Broholm H, Scheurer ME, Lau CC, Hainfellner JA, Wiemels J, Schwartzbaum J Tags: Clin Neuropathol Source Type: research

Clinical Neuropathology image 6-2018: Metastasis of breast carcinoma to meningioma.
Abstract PMID: 30343679 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - October 22, 2018 Category: Pathology Authors: Klotz S, Matula C, Pones M, Herac M, Grisold A, Hainfellner JA, Kovacs GG, Gelpi E Tags: Clin Neuropathol Source Type: research

Neuropolypathology as a result of severe traumatic brain injury?
This report represents an interesting documented case of neuropolypathology that may be associated with prior history of severe TBI. We propose one testable theory that a history of brain trauma may be a potential trigger for late onset dementia due to damage and unresolved functioning of the cerebral microvasculature.
. PMID: 30336803 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - October 19, 2018 Category: Pathology Authors: Doherty CP, O'Keeffe E, Keaney J, Lawlor B, Coen RF, Farrell M, Campbell M Tags: Clin Neuropathol Source Type: research

Capillary hemangioma involved in filar lipoma: A case report.
We report an infantile case of capillary hemangioma involved in filar lipoma. To our knowledge, this is the first report of a case of intradural extramedullary capillary hemangioma at the filum terminale. We suspected that the filar lesion arose during the late phase of secondary neurulation based on the clinical, anatomical, and histological characteristics.
. PMID: 30309451 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - October 12, 2018 Category: Pathology Authors: Naruke Y, Horie H, Nagai Y, Ando R Tags: Clin Neuropathol Source Type: research

Synaptic plexi of U-fibre layer beneath focal cortical dysplasias: Role in epileptic networks.
CONCLUSION: U-fibre synaptic plexi contribute to excitatory circuitry in the cortex and thus to epileptic networks. Deep white matter neurones form local, less integrated plexi except transmantle dysplasias continuous with cortex. U-fibres may be a barrier to axonal penetration from deep heterotopia. Hypermetabolic neurones suggest repetitive ictogenic depolarizations. Gyral resections should include the U-fibre layer. Neuropathology reports should describe subcortical plexi. Synaptophysin immunoreactivity is a valuable supplement for this purpose.
. PMID: 30232955 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - September 20, 2018 Category: Pathology Authors: Sarnat HB, Hader W, Flores-Sarnat L, Bello-Espinosa L Tags: Clin Neuropathol Source Type: research

A rare case of osteochondroma of the coccyx.
PMID: 30232956 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - September 20, 2018 Category: Pathology Authors: Das S, Alshaya W, O'Hara C, van Landeghem F, Aronyk K Tags: Clin Neuropathol Source Type: research

A rare case of diffuse intracranial aspergillosis masquerading as skull base meningioma in an immunocompetent patient.
Abstract 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. The origin, clinical course, radiological features, histopathological findings, and surgical treatment are discussed based on review of literature.
. PMID: 30232959 [PubMed - as supplied by publisher] (Source...
Source: Clinical Neuropathology - September 20, 2018 Category: Pathology Authors: Pant I, Chaturvedi S, Singh AK, Singh G, Tiwari S Tags: Clin Neuropathol Source Type: research

Chondroblastoma of frontal bone: A tumor in an unusual location in a young child.
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. Plain radiography of the skull revealed a circular punched-out lesion in the left frontal precoronal area. Histopathology of the tumor on complete excision showed features of chondroblastoma with increased proliferation. The tumor cells coexpressed vimentin and S100. Complete excision is the recommended treatment with close follow-up for early diagnosis of recurrence.
. PMID: 30178739 [PubMed - as supplied by publ...
Source: Clinical Neuropathology - September 4, 2018 Category: Pathology Authors: Bhatt AS, Babu DN, Sivakoti S, Teegala R, Mahadevan A Tags: Clin Neuropathol Source Type: research

Two unusual cases of high-grade gliomas with eosinophilic granular bodies representing diagnostic dilemmas.
PMID: 30178740 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - September 4, 2018 Category: Pathology Authors: Das S Tags: Clin Neuropathol Source Type: research

Ultrastructural changes in microvessels in familial hemiplegic migraine with CACNA1A mutation.
CONCLUSION: The morphological changes described for the first time in FHM1 suggest that the disease may not only be a functional, but also a structural vascular disorder. We suggest that the presence of these vascular abnormalities can interfere with microcirculation causing damage to the cerebral white matter, visible in MRI scans as hyperintense changes.
. PMID: 30148448 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - August 27, 2018 Category: Pathology Authors: Dziewulska D, Kierdaszuk B Tags: Clin Neuropathol Source Type: research

Distinct pattern of neostriatal calcifications in dyskeratosis congenita: A case report and literature review.
We report a 20-year-old female patient with autosomal dominant DKC established by TINF2 gene mutation. Neostriatal calcifications with a distinctive pattern observed on neuroimaging were confirmed by postmortem microscopic examination. In contrast to the usual pattern of basal ganglia calcification, which starts in the globus pallidus, in this case the deposits were located in the caudate and putamen, sparing the globus pallidus. Iron deposits were also detected with similar distribution. Interestingly, staining for markers of brain aging (τ, amyloid, and p62) yielded negative results. These findings could not be attri...
Source: Clinical Neuropathology - August 14, 2018 Category: Pathology Authors: Abdollahi M, Gao MM, Munoz DG Tags: Clin Neuropathol Source Type: research

Teaching Case 5-2018: Integrated morphological and immunological work-up of neurosurgical specimen allows accurate diagnosis of neuroinflammatory lesions: an example of acute disseminated encephalomyelitis (ADEM) associated with anti-MOG antibodies.
i E PMID: 30103853 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - August 13, 2018 Category: Pathology Authors: Lang J, Biebl A, Gruber A, Maier-Hiebl B, Hainfellner JA, Höftberger R, Gelpi E Tags: Clin Neuropathol Source Type: research

Sulfonylurea receptor 1 expression is variable in adult and pediatric brain tumors.
Abstract 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. SUR1 expression is upregulated in neuroinflammatory conditions. Inhibition of SUR1 with glyburide decreases edema and neuroinflammation by countering cytotoxic edema and apoptosis in rodent models of subarachnoid hemorrhage, stroke, trauma, and cerebral metastases. ...
Source: Clinical Neuropathology - August 6, 2018 Category: Pathology Authors: Thompson EM, Halvorson K, McLendon R Tags: Clin Neuropathol Source Type: research

Tumor cell vanishing with radiological changes suggesting progression in IDH-mutated diffuse astrocytoma treated only with surgery.
;ez A Abstract 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. The patient did not receive additional radiotherapy or chemotherapy. Periodic MRI scans showed a T2/FLAIR nodular enlargement which appeared de novo and grew slowly and gradually until 4 years post surgery. The patient underwent a second craniotomy to completely resect the T2/FLAIR hyperintensity. In the histological and molecular study of the second resection, ...
Source: Clinical Neuropathology - August 6, 2018 Category: Pathology Authors: Hernandez-Lain A, Hilario A, Sepulveda JM, Cantero D, Ramos A, Perez-Nuñez A Tags: Clin Neuropathol Source Type: research

Topography of hemispheric white matter pathology in ten cases of neuronal intermediate filament inclusion disease.
CONCLUSION: 1) Pathological changes across the white matter in NIFID are topographically distributed, 2) there is a correlation between the development of vacuolation and gliosis, and 3) white matter and gray matter pathologies are closely related.
. PMID: 29956645 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - June 29, 2018 Category: Pathology Authors: Armstrong RA Tags: Clin Neuropathol Source Type: research

HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.
This study broadens the phenotype of MTPD and suggests that the genetic testing of patients suffering from IACMT should include the HADHB gene.
. PMID: 29956646 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - June 29, 2018 Category: Pathology Authors: Lu Y, Wu R, Meng L, Lv H, Liu J, Zuo Y, Zhang W, Yuan Y, Wang Z Tags: Clin Neuropathol Source Type: research

Delayed inflammatory leukoencephalopathy after gastric bypass surgery.
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. The cerebral WM revealed perivascular T-cell infiltrations and strong immunoreactivity for the amyloid precursor protein limited to axons, without signs of myelin or neuronal injury. Unexplained WM lesions have been reported in post-bariatric-surgery patients. Our findings suggest that altered immunity and axon...
Source: Clinical Neuropathology - June 29, 2018 Category: Pathology Authors: Lach B, Goodwin S, Edgecombe A, Duncan A, Fernandes J Tags: Clin Neuropathol Source Type: research

Molecular diagnostic testing of diffuse gliomas in the real-life setting: A practical approach.
nfellner JA Abstract 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. T...
Source: Clinical Neuropathology - June 20, 2018 Category: Pathology Authors: Bieńkowski M, Wöhrer A, Moser P, Kitzwögerer M, Ricken G, Ströbel T, Hainfellner JA Tags: Clin Neuropathol Source Type: research

Cerebellar high-grade gliomas do not present the same molecular alterations as supratentorial high-grade gliomas and may show histone H3 gene mutations.
We report a histomolecular analysis of pure cerebellar high grade gliomas. The histomolecular profile appears to be different from that of supratentorial gliomas, with no IDH1/2 gene mutations and only 1 case with a classic profile of de novo glioblastoma. In 2 cases, we identified H3F3A K27M mutation, classically described in pediatric midline gliomas.
. PMID: 29809131 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - May 29, 2018 Category: Pathology Authors: Tauziède-Espariat A, Saffroy R, Pagès M, Pallud J, Legrand L, Besnard A, Lacombe J, Lot G, Borha A, Tazi S, Adle-Biassette H, Polivka M, Lechapt E, Varlet P Tags: Clin Neuropathol Source Type: research

Muscle biopsy displaying "double trouble" pathology: Combined features of periodic paralysis and dermatomyositis.
Muscle biopsy displaying "double trouble" pathology: Combined features of periodic paralysis and dermatomyositis. Clin Neuropathol. 2018 May 24;: Authors: Filosto M, Galvagni A, Fagiolari G, Caria F, Cotti Piccinelli S, Marchesi M, Gallo Cassarino S, Baronchelli C, Moggio M, Padovani A PMID: 29792396 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - May 24, 2018 Category: Pathology Authors: Filosto M, Galvagni A, Fagiolari G, Caria F, Cotti Piccinelli S, Marchesi M, Gallo Cassarino S, Baronchelli C, Moggio M, Padovani A Tags: Clin Neuropathol Source Type: research

Joint meeting: 54th Congress of the Italian Association of Neuropathology and Clinical Neurobiology (AINPeNC) 44th Congress of the Italian Association for Cerebral Aging Research (AIRIC).
Abstract Milan, Italy, May 17 - 19, 2018 Presidents: Giorgio Giaccone and Gianluigi Forloni Organizing Committee: T. Cavallaro, G. Cenacchi, F. Fusco, P.L. Poliani, G. Puoti, L. Pradotto, D. Albani, O. Bugiani, A.M. Confaloni, M. Gallucci, A. Guaita, A. Panaccione, and E. Scarpini Scientific Committee: AINPeNC and AIRIC Board. PMID: 29722647 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - May 3, 2018 Category: Pathology Authors: Giaccone G, Forloni G Tags: Clin Neuropathol Source Type: research

In memoriam Werner Rosenthal (1870 - 1942).
PMID: 29701168 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - April 27, 2018 Category: Pathology Authors: Goebel HH Tags: Clin Neuropathol Source Type: research

A newly diagnosed case of polymorphous low-grade neuroepithelial tumor of the young.
Abstract 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-...
Source: Clinical Neuropathology - April 27, 2018 Category: Pathology Authors: Bitar M, Danish SF, Rosenblum MK Tags: Clin Neuropathol Source Type: research

Focal myositis with neurogenic atrophy: Case report and review of the literature.
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. He had otherwise no weakness complaints. Physical and neurological examinations were otherwise normal. Creatine kinase and aldolase levels were increased (1,009 U/L and 11.9 U/L, respectively); autoimmunity panel was negative. MRI showed diffuse edema and gadolinium enhancement of muscles innervated by the median nerve. EMG revealed repetitive complex discharges and patterns of continuous muscular activity. The mass w...
Source: Clinical Neuropathology - April 9, 2018 Category: Pathology Authors: Fitas D, Monteiro A, Silveira F, Castro L, Carpenter S, Nadais G Tags: Clin Neuropathol Source Type: research

Absence of 1p/19q codeletion in oligodendroglioma-like areas of pilocytic astrocytomas.
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. 1p/19q codeletions were not found in any of the oligodendroglioma areas in PAs. We conclude that PAs with oligodendroglioma-like areas do not share the same molecular genetics as classic oligodendroglioma.
. PMID: 29595124 [PubMed - as supplied by ...
Source: Clinical Neuropathology - March 29, 2018 Category: Pathology Authors: Frazer B, Kearney H, Cryan J, Beausang A, Brett F, Farrell MA, Buckley PG Tags: Clin Neuropathol Source Type: research

A 3-year old female with an atypical pineal tumor.
PMID: 29595125 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - March 29, 2018 Category: Pathology Authors: Kearney H, Beausang A Tags: Clin Neuropathol Source Type: research

The legacy of retinoblastoma: Three unusual tumors in a woman with a history of heritable retinoblastoma - a case report.
PMID: 29595126 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - March 29, 2018 Category: Pathology Authors: Aizpurua M, Chandler C, Jarosz J, Zerrin O, Thway K, Fisher C, King A Tags: Clin Neuropathol Source Type: research

The Dejerine Foundation.
PMID: 29578395 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - March 26, 2018 Category: Pathology Authors: Mikol J, Seilhean D Tags: Clin Neuropathol Source Type: research

Calf muscle hypertrophy following S1 radiculopathy: A stress disorder caused by hyperactivity with variable response to treatmen.
ssi A PMID: 29451471 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - February 16, 2018 Category: Pathology Authors: Volpi N, Ginanneschi F, Cerase A, Carbone SF, Aglianò M, Lorenzoni P, Bellini M, Bartalini S, Di Pietro G, Rossi A Tags: Clin Neuropathol Source Type: research

Teaching Case 2-2018: Sclerosing myxopapillary ependymoma mimicking whorling-sclerosing meningioma.
PMID: 29436365 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - February 13, 2018 Category: Pathology Authors: Lang J, Czech T, Slavc I, Reisinger D, Bartsch S, Hainfellner JA, Haberler C, Gelpi E Tags: Clin Neuropathol Source Type: research

Reactive gliosis mimicking tumor recurrence - a case series documenting MRI abnormalities and neuropathological correlates.
This study highlights the difficulty in radiologically diagnosing a foreign-body reaction and also identifies that such a gliotic reaction may occur as a consequence of exogenous materials used in a craniotomy or cranioplasty.
. PMID: 29424334 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - February 9, 2018 Category: Pathology Authors: Kearney H, Cryan J, Beausung A, Looby S, Brett FM Tags: Clin Neuropathol Source Type: research

H3 K27M-mutant gliomas in adults vs. children share similar histological features and adverse prognosis.
CONCLUSION: H3 K27M-mutant tumors can affect patients at advanced ages, may show leptomeningeal dissemination at time of presentation, and "pure" GG or PA morphology is not rare. Regardless of patient age or tumor morphology, patients fare equally poorly.
. PMID: 29393845 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - February 2, 2018 Category: Pathology Authors: Kleinschmidt-DeMasters BK, Mulcahy Levy JM Tags: Clin Neuropathol Source Type: research

Atypical lower motor neuron disease with enlargement of Nissl substance: Report of an autopsy case.
Abstract The patient was an 81-year-old woman diagnosed with atypical motor neuron disease who died after a long clinical course (7.5 years without mechanical assistance of ventilation) characterized by lower motor neuron signs and symptoms. Upper motor neuron signs and cognitive impairment were not apparent. Autopsy demonstrated severe neuronal loss in the anterior horn of the spinal cord, and some of the remaining neurons showed enlargement of Nissl substance and apparent thickening of the nuclear envelopes. No Bunina bodies, skein-like inclusions, or structures immunoreactive for phosphorylated transactiva...
Source: Clinical Neuropathology - January 19, 2018 Category: Pathology Authors: Shintaku M, Kaneda D, Oyanagi K Tags: Clin Neuropathol Source Type: research

The DNA copy number landscape of a collision tumor.
Abstract Intracranial collision tumors are composed of two histologically distinct but merging components, and are rare. Their genetic profile has rarely been described. Comparative genome hybridization of a combined meningioma and oligodendroglioma demonstrated deletion of chromosome 22q and of 19q in both tumors. Somatic deletion of chromosome 22q and 19q is associated with development of an intracranial collision tumor.
. PMID: 29350171 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - January 19, 2018 Category: Pathology Authors: Kearney H, Cryan JB, Looby S, Brett FM, Farrell MA, Buckley PG Tags: Clin Neuropathol Source Type: research

Presence of apoptosis distinguishes primary central nervous system lymphoma from glioblastoma during intraoperative consultation.
CONCLUSION: The presence of apoptosis was effective for the intraoperative diagnosis of PCNSL compared to GM.
. PMID: 29336777 [PubMed - as supplied by publisher] (Source: Clinical Neuropathology)
Source: Clinical Neuropathology - January 16, 2018 Category: Pathology Authors: Cha YJ, Choi J, Kim SH Tags: Clin Neuropathol Source Type: research