Volume 29, No. 2/2010(March/April)
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 Clinical Neuropathology
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Editorial
Clinical Neuropathology, Vol. 29 – No. 2/2010
J. Hainfellner
Abstract
Clinical Neuropathology, Vol. 29 – No. 2/2010 (57-58)
Clinical Neuropathology, Vol. 29 – No. 2/2010
J. Hainfellner
Usefulness of combined nerve and muscle biopsy in the diagnosis of amyloid neuropathy – a study of 6 new cases
C. Vital, A. Lagueny, P. Mercie, J.-F. Viallard, J.-P. Delabrousse-Mayoux and A. Vital,
Abstract
Clinical Neuropathology, Vol. 29 – No. 2/2010 (59-64)
Usefulness of combined nerve and muscle biopsy in the diagnosis of amyloid neuropathy – a study of 6 new cases
C. Vital1, A. Lagueny3, P. Mercie4, J.-F. Viallard4, J.-P. Delabrousse-Mayoux5 and A. Vital1, 2
1CNRS, Bordeaux Institute of Neurosciences, UMR 5227, 2Pathology, 3Neurology, and 4Internal Medicine Departments, Bordeaux University Hospital and 5Bergerac Hospital, Bordeaux, France
Objective: Most cases of familial amyloid polyneuropathy are identified by molecular genetic analysis of the transthyretin (TTR) gene. However, it is not uncommon to find unexpected amyloid deposits marked by the anti-TTR serum in the endoneurium of aged patients. Light chain amyloid deposits may also be found in the endoneurium. During these past 5 years, we studied the muscle and nerve biopsies from 6 patients which revealed amyloid deposits. There were 2 patients with an idiopathic polyneuropathy and 4 with monoclonal gammopathy (MG). Methods: In each case, specimens from the superficial peroneal nerve and peroneus brevis muscle were taken by the same cutaneous incision. Results: Amyloid deposits were visible in the endoneurium of 2 cases and only on muscle specimens in 3 other cases, 1 with a MG and 2 with an idiopathic polyneuropathy. Amyloid deposits were strongly stained with the anti-TTR serum in the muscle specimens of the 2 idiopathic cases, mainly located in vessel walls. In one patient with polyneuropathy and MG, a small endoneurial amyloid deposit surprisingly revealed to be immunostained by the anti-TTR serum. In another case, a small amyloid deposit in close relationship with a macrophage was only visible in the endoneurium by electron microscopy. Comments: Amyloid deposits were only visible on muscle fragments in 3 cases and were strongly marked by the anti-TTR serum in 2 of them, indicating their familial origin. Combining muscle and nerve biopsy raises the number of cases with visible amyloid deposits.Correspondence to:
A. Vital, MD, PhD
Laboratoire de Neuropathologie, BP 42
Université Victor Segalen, Bordeaux 2
146, rue Léo Saignat
33076 Bordeaux Cedex, France
Email: anne.vital@chu-bordeaux.fr
Piriformis syndrome – an attempt to understand its pathology
D.N. Kanakis, A.C. Lazaris, E.C. Papadopoulos, E.A. Kallitsis, E.S. Patsouris and H.A. Paraskevakou
Abstract
Clinical Neuropathology, Vol. 29 – No. 2/2010 (65-71)
Piriformis syndrome – an attempt to understand its pathology
D.N. Kanakis1,2, A.C. Lazaris1, E.C. Papadopoulos3, E.A. Kallitsis1, E.S. Patsouris1 and H.A. Paraskevakou1
1First Department of Pathology, National and Kapodistrian University of Athens, Athens, Greece, 2Department of Pathology and Neuropathology, Section Neuropathology, University Hospital Essen, Essen, Germany, and 3First Department of Orthopedics, National and Kapodistrian University of Athens, Athens, Greece
Objective: Gross anatomy of the hip rotators and histology of the sciatic nerves in adult cadavers were studied, aiming to the identification of possible pathologic changes related to the piriformis syndrome (PS). Material: 50 cadavers were dissected; in 17 cases with macroscopical findings the sciatic nerves were harvested (34 sciatic nerves; 17 cadavers). History of low back or leg pain was not available. Method: Site anatomy and additional findings at the harvesting sites were recorded, such as anatomical variations, adhesions, hematomas etc. All nerves were additionally microscopically analyzed. In cases with findings at the dissection, the contralateral unaffected nerves served as controls. All the dissected nerves were conserved in 10% formalin solution, embedded in paraffin, stained with Hematoxylin and Eosin (H&E) and immunolabeled with antibodies against Neurofilament (NF). Results: Both the H&E staining as well as the performed immunohistochemistry showed, to a variable degree, significant alterations in the structure of the affected nerves compared to the controls. Conclusions: These findings both in the local anatomy and sciatic nerve correspond to lesions that are expected in PS. Nevertheless, since this was a cadaveric study, unassociated to a certain pain patient’s history, results should be considered and interpreted as an indication of a sciatic nerve injury in PS.Correspondence to:
D.N. Kanakis, MD, PhD
Department of Pathology and Neuropathology
Section Neuropathology
University Hospital Essen
Hufelandstr. 55, 45122 Essen, Germany
Email: dimitrios.kanakis@uk-essen.de
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy
N.C. Voermans, M. Guillard, R. Doedée, M. Lammens, , M. Huizing, G.W. Padberg, R.A. Wevers, , B.G. van Engelen and D.J. Lefeber
Abstract
Clinical Neuropathology, Vol. 29 – No. 2/2010 (71-77)
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy
N.C. Voermans1, M. Guillard2, R. Doedée2, M. Lammens1, 3, M. Huizing4, G.W. Padberg1, R.A. Wevers1, 2, B.G. van Engelen1 and D.J. Lefeber1,2
1Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, 2Laboratory of Pediatrics and Neurology, 3Department of Pathology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands and 4Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
We present a comprehensive report of two siblings with hereditary inclusion body myopathy (HIBM). The clinical features and histological characteristics of the muscle biopsies showed the typical pattern of predominantly distal vacuolar myopathy with quadriceps sparing. This was confirmed by muscle MRI. PNA lectin staining showed an increased signal at the sarcolemma in patient muscle sections compared to control muscle, indicating reduced sialylation of glycoconjugates. Mutation analysis revealed compound heterozygous mutations in the GNE gene, encoding the key enzyme in sialic acid synthesis UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase: a missense mutation (c.2086G > A; p.V696M) previously described in HIBM patients of Indian origin, and a novel frame shift mutation (c.1295delA; p.K432RfsX17) leading to a premature stopcodon. These findings confirmed the diagnosis of HIBM on the histological, molecular and biochemical level.Correspondence to:
N.C. Voermans
Department of Neurology, 935
Donders Institute for Brain, Cognition and Behavior
Radboud University Nijmegen Medical Center
P.O. Box 9101
6500 HB Nijmegen, The Netherlands
Email: n.voermans@neuro.umcn.nl
X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions
A. Fidzianska, I. Niebrój-Dobosz, A. Madej-Pilarczyk, N.T. Duong and M. Wehnert
Abstract
Clinical Neuropathology, Vol. 29 – No. 2/2010 (78-83)
X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions
A. Fidzianska1, I. Niebrój-Dobosz1, A. Madej-Pilarczyk1, N.T. Duong2 and M. Wehnert2
1Neuromuscular Unit, Medical Research Center, Polish Academy of Science, Warsaw, Poland and 2Institute of Human Genetics, University of Greifswald, Greifswald, Germany
The study demonstrates a 12-year-old patient with progressive proximal muscle weakness, joint contractures, rigidity of the neck, and absence of emerin and lamin A in the muscle nuclei, which is caused by intronic mutation IVS3-27del18 (c.266-27del18) in the emerin gene. The most surprising finding was the appearance of IBM-like inclusions in euchromatin, as well as aberrant nuclei. It may be speculated that altered expression of the emerin-lamin complex and modification of the nuclear matrix leads to formation of tubulofilamentous structures in the presented case.Correspondence to:
A. Fidzianska, MD, PhD
Neuromuscular Unit
Mossakowski Medical Research Center
Polish Academy of Science
Pawinskiego St. 5
02-106 Warsaw, Poland
Email: neurmyol@cmdik.pan.pl
Amiodarone-induced liver cirrhosis and parkinsonism: a case report
S. Ishida, M. Sugino, T. Hosokawa, T. Sato, D. Furutama, A. Fukuda, F. Kimura, H. Kuwabara, Y. Shibayama and T. Hanafusa
Abstract
Clinical Neuropathology, Vol. 29 – No. 2/2010 (84-88)
Amiodarone-induced liver cirrhosis and parkinsonism: a case report
S. Ishida1, M. Sugino1, T. Hosokawa1, T. Sato1, D. Furutama1, A. Fukuda1, F. Kimura1, H. Kuwabara2, Y. Shibayama2 and T. Hanafusa1
1First Department of Internal Medicine and 2Department of Pathology, Osaka Medical College, Takatsuki City, Osaka, Japan
Background: Amiodarone-induced hepatotoxicity consists of mild liver test abnormalities and rare cases of acute hepatitis and chronic hepatic lesions, and histologically resembles the whole spectrum of alcoholic liver disease, i.e., non-alcoholic steatohepatitis. Amiodarone-induced neurotoxicity, including tremor, ataxia and peripheral neuropathy, is known, and some cases of parkinsonism following amiodarone use have also been reported. Objective: To study the pathology of amiodarone-associated parkinsonism. Design: Light and electromicroscopical examinations of a patient with liver cirrhosis and amiodarone-induced parkinsonism. Results: On postmortem examination, the liver showed micronodular cirrhosis. Striking steatosis and frequent Mallory bodies were present on light microscopy. There were lysosomal inclusion bodies on electron microscopy. From these findings, amiodarone-induced liver cirrhosis was diagnosed. Brain atrophy and infarcts were not observed, and pigmentation in the substantia nigra was preserved. Histologically, there was a slightly lesser degree of neuronal loss with astrocytosis in the substantia nigra, locus ceruleus, and dorsal vagal nucleus. Lewy bodies were not found. In the cerebral white matter and basal ganglia, Alzheimer Type II astrocytes, which are abundant in hepatic encephalopathy, had deposition of electron-dense materials within the lysosomes and mitochondrial matrices. The materials were compatible with the accelerated amiodarone. Conclusions: This is the first case in which the accumulation of amiodarone in the brain was morphologically observed. Amiodarone accumulation in the brain may play a role in neurotoxicity inducing parkinsonism.Correspondence to:
S. Ishida, MD
2-7, Daigaku-machi
Takatsuki City, Osaka, 569-0801, Japan
Email: in1212@poh.osaka-med.ac.jp
CD34 expression in glioblastoma and giant cell glioblastoma
M. Galloway
Abstract
Clinical Neuropathology, Vol. 29 – No. 2/2010 (89-93)
CD34 expression in glioblastoma and giant cell glioblastoma
M. Galloway
Consultant Neuropathologist/Honorary Senior Lecturer, Royal Free Hampstead NHS Trust/UCL Medical School, Department of Cellular Pathology, Royal Free Hospital, London, UK
Objective: This study aimed to determine whether CD34 is expressed in glioblastomas and giant cell glioblastomas, as this information may be of value when attempting to differentiate between giant cell glioblastomas and other relevant differential diagnoses such as pleomorphic xanthoastrocytomas with anaplastic features and anaplastic gangliogliomas. Material: 11 giant cell glioblastomas and 16 non-giant cell glioblastomas were assessed with immunocytochemical staining for CD34. Method: Standard immunocytochemical techniques were used, to reflect the staining patterns likely to be seen in routine diagnostic practice. Positive staining refers to staining of neoplastic cells. Results: 73% of giant cell glioblastomas showed some degree of staining for CD34, and 55% showed strong widespread staining. 56% of non-giant cell glioblastomas showed some degree of CD34 staining, and 25% showed strong widespread staining. Conclusions: Both giant cell and non-giant cell glioblastomas frequently show CD34 expression by neoplastic cells, which may in some cases be strong and diffuse. Strong widespread staining of neoplastic cells for CD34 was more frequent in giant cell than non-giant cell glioblastomas, however this difference was not statistically significant. CD34 staining in isolation is unlikely to be of assistance in differentiating between giant cell glioblastoma and pleomorphic xanthoastrocytomas with anaplastic features or anaplastic gangliogliomas.Correspondence to:
Dr. M. Galloway, BSc MBBS FRCPath
Consultant Neuropathologist/Honorary Senior Lecturer
Royal Free Hampstead NHS Trust/UCL Medical School
Department of Cellular Pathology
Royal Free Hospital
Pond Street, London NW3 2QG, UK
Email: malcolm.galloway@royalfree.nhs.uk
Intraosseous soft tissue perineurioma: report of a vertebral example
A. Sav, B.W. Scheithauer, W.A.S. Taylor, G. Miller and W. Stewart
Abstract
Clinical Neuropathology, Vol. 29 – No. 2/2010 (94-99)
Intraosseous soft tissue perineurioma: report of a vertebral example
A. Sav1, B.W. Scheithauer2, W.A.S. Taylor4, G. Miller3 and W. Stewart5
1Department of Pathology, Acibadem Medical Center, Istanbul, Turkey, 2Pathology and Laboratory Medicine and 3Neuroradiology, Mayo Clinic, Rochester, MN, USA, 4Neurosurgery and 5Neuropathology, Southern General Hospital, Glasgow, UK
Objective: To describe a unique intraosseous perineurioma affecting the L2 vertebral body and pedicle of a 28-year-old female. Material: A lytic, expansive lesion virtually limited to bone was gross totally excised; only minimal epidural extension was noted. Methods: Histologic, immunohistochemical and ultrastructural studies were performed. Results: The tumor was partially encapsulated, moderately cellular, and showed classic features of benign soft tissue perineurioma, being composed of interlacing fascicles of spindle cells with undulating nuclei and long, very narrow, cytoplasmic processes. Immunohistochemistry showed reactivity for EMA, Glut-1, claudin, collagen-4 and CD34; no S-100 or neurofilament protein staining was seen to suggest an origin in nerve. Conclusion: Perineurioma, a tumor affecting soft tissue, and presumably nerve-unassociated, may affect bone. No prior entirely osseous examples have been reported. This tumor expands the differential diagnosis of spindle cell tumors of bone.Correspondence to:
B.W. Scheithauer, MD
Division of Anatomic Pathology
Mayo Clinic
200 First Street, SW
Rochester, MN 55905, USA
Email: scheithauer.bernd@mayo.edu
Orbital paraganglioma – a case report and review of the literature
R. Makhdoomi, K. Nayil, V. Santosh and S. Kumar
Abstract
Clinical Neuropathology, Vol. 29 – No. 2/2010 (100-104)
Orbital paraganglioma – a case report and review of the literature
R. Makhdoomi1, K. Nayil1, V. Santosh2 and S. Kumar2
1Neuropathology, 2Neurosurgery, NIMHANS, Bangalore, India
Paragangliomas are unique neuroendocrine neoplasms arising in specialized neural crest cells and may be adrenal or extra-adrenal. Paragangliomas have been described in various unusual locations, e.g., urinary bladder, prostate, cauda equina, larynx, sellar region, thyroid gland and nasal cavity. Orbital paragangliomas are very rare and peculiar in histogenesis as the orbit is a site in which the existence of normal paraganglia is not well-documented in humans. We hereby report a case of an orbital paraganglioma in a 70-year-old female patient, the oldest patient reported so far.Correspondence to:
R. Makhdoomi, MD
Assistant Professor
SKIMS, Soura
Srinagar, Kashmir, 19011 India
Email: rumanahamid@rediffmail.com
Metastatic malignant melanoma within meningioma with intratumoral infarct: report of an unusual case and literature review
D. Pal, D. Bhargava, S.D. Bucur, A. Shivane, A. Chakrabarty and P. Van Hille
Abstract
Clinical Neuropathology, Vol. 29 – No. 2/2010 (105-108)
Metastatic malignant melanoma within meningioma with intratumoral infarct: report of an unusual case and literature review
D. Pal1, D. Bhargava1, S.D. Bucur1, A. Shivane2, A. Chakrabarty2 and P. Van Hille1
Departments of 1Neurosurgery and 2Neuropathology, Leeds General Infirmary, United Kingdom
We report an unusual case of a patient with a sphenoid wing meningioma that after a few years of static radiological appearance presented with sudden deterioration following rapid growth of tumor with intratumoral infarct. The patient underwent surgery and malignant melanoma deposits within the meningioma were demonstrated on histopathological examination. She had a history of a malignant melanoma (MM) excised from the left forearm 10 months ago with no evidence of recurrence. Although metastasis to meningioma has been widely reported, this is only the second report where the primary tumor is MM. In addition, to the best of our knowledge, intratumoral hypodensity from metastasis is unusual. The tumor-to-tumor phenomenon is discussed and the literature is reviewed.Correspondence to:
D. Pal, FRCS (SN)
35 Weylands Grove
Salford, M6 7WX, United Kingdom
Email: debasishpal@yahoo.co.uk
Expression of growth factors in brain tumors: correlation with tumor grade, recurrence and survival
F. Maiuri, M. Del Basso De Caro, A. Siciliano, C. Peca, P. Vergara, G. Mariniello and G. Pettinato
Abstract
Clinical Neuropathology, Vol. 29 – No. 2/2010 (109-114)
Expression of growth factors in brain tumors: correlation with tumor grade, recurrence and survival
F. Maiuri1, M. Del Basso De Caro2, A. Siciliano2, C. Peca1, P. Vergara1, G. Mariniello1 and G. Pettinato2
1Department of Neurological Sciences, Section of Neurosurgery and 2Department of Biomorphological and Functional Sciences, Section of Pathology, School of Medicine, University “Federico II”, Naples, Italy
Objective: The aim of this study is to evaluate the correlation between the expression of some growth factors (GFs) and the tumor grade, recurrence and survival of brain glial and ependymal tumors. Material and methods: The expression of vascular endothelial growth factor (VEGF), epidermal growth factor receptor (EGFR), tenascine, transforming growth factor (TGFβ), isomeres, platelet-derived growth factor (PDGF) and p53 was studied in 40 primary brain tumors, both low-grade and high-grade, including astrocytomas, oligodendrogliomas, glioblastomas and ependymomas. The same GFs were also studied in 46 specimens of recurrent tumors from the same patients. The positivity and intensity of the immunohistochemical expression were correlated with the tumor grade, the interval and type of recurrence, and the survival. Results: The expression of all GFs, excepting TGFβ1, TGFβRI and tenascine, was found to be correlated with the tumor grade in all tumors of both astroglial and oligodendroglial origin, whereas ependymomas showed significant differences only for EGFR. Low-grade (Grade II) tumors recurring as anaplastic (Grade III) forms showed GF expression rather similar to initially high-grade gliomas and significantly higher than that of low-grade (Grade II) tumors in both initial surgery and recurrence. Besides, low-grade (Grade II) tumors recurring as low-grade showed significantly longer median recurrence time (5.4 vs. 3.5 years) and better median survival (8.3 vs. 5.4 years) than those recurring as anaplastic forms (WHO III). Conclusion: The immunohistochemical study of expression of VEGF, EGFR, TGFβ2, TGFβ3, PDGF and p53 in all low-grade (Grade II) brain gliomas at the first operation may help to differentiate cases with slower evolution and longer survival from those with higher potential of anaplastic transformation.Correspondence to:
Prof. F. Maiuri
Dipartimento di Scienze Neurologiche
Cattedra di Neurochirurgia
Facoltà di Medicina Universitá, “Federico II”
Napoli, Italia
Email: frmaiuri@yahoo.it
Euro-CNS News
Society News of the European Confederation of Neuropathological Societies
Abstract
Society News of the European Confederation of Neuropathological Societies
