Volume 27, No. 1/2008(Jan/Feb)
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 Clinical Neuropathology
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Review
Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance
D. Kabzinska, I. Hausmanowa-Petrusewicz and A. Kochanski
Abstract
D. Kabzinska, I. Hausmanowa-Petrusewicz and A. Kochanski
Neuromuscular Unit, Mossakowski Medical Research Center,
Polish Academy of Sciences, Pawinskiego 5, Warszawa, Poland
In recent years, 13 loci and 10 genes have been identified in Charcot-Marie-Tooth disorders with a recessive mode of inheritance (AR-CMT). Accordingly, the entity of AR-CMT has been divided into subgroups on the basis of genetic linkage. Mutations in the MTMR2, MTMR13, GDAP1, PRX, CTDP1, KIAA1985 and NDRG1 genes have been shown to be associated with specific CMT phenotypes. In AR-CMT disorders associated with mutations in the LMNA and MED25 genes the number of patients is still too low to achieve reliable phenotype-genotype correlations. In the present review, we summarize molecular, electrophysiological, neuropathological and clinical aspects of AR-CMT disorders.Correspondence to:
A. Kochanski, MD PhD; Neuromuscular Unit, Mossakowski Medical Research Center, Pawinskiego 5, 02-106 Warszawa, Poland
Email: andko@cmdik.pan.pl
Tumor
Activated B-cell immunophenotype might be associated with poor prognosis of primary central nervous system lymphomas
S. Bhagavathi, A. Sharathkumar, S. Hunter, L. Sung, R. Kanhere, M.D. Venturina and J.D. Wilson
Abstract
S. Bhagavathi, A. Sharathkumar, S. Hunter, L. Sung, R. Kanhere, M.D. Venturina and J.D. Wilson
1Anatomic Pathology, William Beaumont Hospital, Royal Oak and 2Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI, USA
Primary central nervous system (PCNS) diffuse large B-cell lymphoma (DLBCL) is an aggressive form of non-Hodgkin’s lymphoma whose growth is restricted to the central nervous system and eye. Primary CNS DLBCL has a poor prognosis relative to other extranodal DLBCL. Recently DLBCL has been subclassified as germinal and non-germinal center B-cell types using microarray. Germinal center B-cell DLBCL is associated with better prognosis compared to non-germinal center B-cell group. The objective of the study was to subcategorize the PCNS DLBCL into germinal center and non-germinal center DLBCL using immunohistochemistry and to correlate its prognostic significance. 21 immunocompetent patients were diagnosed with PCNS DLBCL over last 20 years at William Beaumont Hospital. Clinical data on outcome were collected and their specimens were retrieved. Immunohistochemical staining was done using markers, CD20, CD10, Bcl-6, MUM-1, MIB-1, Bcl-2 and by molecular analysis of the immunoglobulin heavy chain gene (IgH) variable region. Immunohistochemistry showed 1/21 (positive cases/examined cases) for CD10, 19/21 for Bcl-6, 19/21 for MUM-1 and 15/21 for Bcl-2. The expression pattern of CD10 (–) MUM-1 (+) is corresponded to the non-germinal center DLBCL. The MIB-1 index ranged from 40 – 80% with a mean of 57%, indicating a high proliferation of lymphoma cells. The IgH gene variable region analysis showed monoclonality in 15 of 21 cases (71%). Primary CNS DLBCL has a non-germinal center B-cell phenotype in majority of cases and has a high Bcl-2 positivity and MIB-1 index. These features might be associated with poor prognosis.Correspondence to:
Dr. S. Bhagavathi; Anatomic Pathology, William Beaumont Hospital, 3601, W 13th Mile Road, Royal Oak, MI, 48073, USA
Email: sbhagavathi@beaumont.edu
Tumor
The clinico-surgico-pathological spectrum of myxopapillary ependymomas – report of four unusal cases and review of the literature
J. Schittenhelm, R. Becker, D. Capper, R. Meyermann, J.R. Iglesias-Rozas, J. Kaminsky and M. Mittelbronn
Abstract
J. Schittenhelm, R. Becker, D. Capper, R. Meyermann, J.R. Iglesias-Rozas, J. Kaminsky and M. Mittelbronn
1Institute of Brain Research, University of Tübingen, 2Department of Neurosurgery, Asklepios Hospital Seesen, 3Institute of Pathology, Katharinenhospital Stuttgart, 4Department of Neurosurgery, University of Tübingen, Germany
According to the WHO grading system, myxopapillary ependymomas are assigned to WHO Grade I. However, the clinico-pathological spectrum might be very heterogenous. Herein, we report 4 cases exhibiting lumbar tumor masses, 1 causing muscular atrophy over a 30-year period, 3 displaying clinical history of persisting lumbar pain for only several weeks. All tumors were crooked with dura and spinal roots resulting in incomplete resection in three cases. On histological examination, two tumors were almost acellular and showed polycyclic hyaline and fibrotic extracellular matrix leading to differential diagnoses of chordoma, meningioma, fibrolipoma and ependymoma. Finally, together with the immunohistochemical investigations, electron microscopy led to the diagnosis of myxopapillary ependymoma, WHO Grade I, with massive degenerative changes. The other 2 cases presented with the typical neuropathology of myxopapillary ependymomas but showed local recurrence within 1 and 13 years throughout the whole neuraxis, and in 1 case additional metastases of the 3rd ventricle. Although the morphological feature of these myxopapillary ependymomas was benign, the presented cases showed that the biological behavior of myxopapillary tumors might differ greatly and that these tumors present a serious operative and diagnostic challenge. Myxopapillary ependymomas occur most often in the lumbosacral region. Due to the anatomic complexity of the cauda equina, a complete resection can be technically challenging in this region. However, a gross total resection at the primary surgery is the most predictive factor for the outcome.Correspondence to:
Dr. J. Schittenhelm; Institut für Hirnforschung, Universität Tübingen, Calwerstraße 3, 72076 Tübingen, Germany
Email: jens.schittenhelm@med.uni-tuebingen.de
Tumor
Local versus diffuse recurrences of meningiomas: factors correlated to the extent of the recurrence
F. Maiuri, R. Donzelli, G. Mariniello, M.L. Del Basso De Caro, A. Colella, C. Peca, P. Vergara and G. Pettinato
Abstract
F. Maiuri, R. Donzelli, G. Mariniello, M.L. Del Basso De Caro, A. Colella, C. Peca, P. Vergara and G. Pettinato
1Department of Neurological Sciences, Section of Neurosurgery, 2Department of Biomorphological and Functional Sciences, Section of Pathology, “Federico II” University, Naples, Italy
Objective: The aim of this study is to evaluate the factors correlated with the different patterns (local, peripheral and diffuse) of meningioma recurrence. Material and methods: 55 patients with benign (WHO I) meningiomas which recurred after seemingly complete removal were reviewed; 40 (Group I) had local or peripheral recurrences (< 3 cm from the initial dural attachment) and 15 (Group II) had distant and diffuse recurrences. Patient age and sex, tumor location, interval of recurrence, tumor shape, type of brain-tumor interface, histological subtype, mitotic index (MI) and progesterone receptor (PR) expression of the initial tumor, histological WHO Grade of the recurrent tumor and patient outcome were analyzed and correlated with the pattern of recurrence. Results: Flat-shaped meningiomas with large dural attachment showed a significantly higher rate of diffuse recurrences than round tumors, whereas the brain-tumor interface and the tumor location were not relevant (excepting the lack of convexity meningiomas in the group of diffuse tumors). There were no significant differences of histology, MI and PR expression of the initial tumor and histological grade of the recurrent tumor between the two groups. Conclusions: The different patterns of meningioma recurrences (local, peripheral, diffuse) are not correlated with the tumor location and histology and do not represent a different biological tumor progression. We agree that most unexpected extensive recurrences result from a more extensive microscopic dural involvement.Correspondence to:
Prof. F. Maiuri; Dipartimento di Scienze Neurologiche, Cattedra di Neurochirurgia Università Federico II, Via Pansini 5, 80131 Napoli, Italy
Email: frmaiuri@unina.it
Vascular Lesions
Giant serpentine aneurysm of vertebrobasilar artery mimicking dolichoectasia – an unusual complication of pediatric AIDS
A. Mahadevan, R. Tagore, N.B. Siddappa, V. Santosh, T.C. Yasha, U. Ranga, B.A. Chandramouli and S.K. Shankar
Abstract
A. Mahadevan, R. Tagore, N.B. Siddappa, V. Santosh, T.C. Yasha, U. Ranga, B.A. Chandramouli and S.K. Shankar
Departments of 1Neuropathology and 2Neurosurgery, National Institute of Mental Health and Neurosciences, 3Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Jakkur, Bangalore, India
Central nervous system manifestations of acquired immunodeficiency syndrome (AIDS) in children differ strikingly from adults. Developmental delay, subacute AIDS encephalitis and basal ganglia calcification are common in children, in contrast to opportunistic infections and dementia in adults. Intracranial aneurysms are being recognized with increasing frequency in pediatric AIDS. Fusiform dilatation of vessels of circle of Willis to form large aneurysms, termed cerebral aneurysmal childhood arteriopathy, is an exceedingly rare complication of pediatric AIDS. We report a case of massive fusiform dilatation of vertebrobasilar system mimicking congenital dolichoectasia with evidence suggesting direct causation by HIV-1 Clade C virus. In view of scant literature that exists on this unusual complication of pediatric AIDS, we present a detailed review of all previously recorded cases and review the etiopathogenesis. There are 20 reports (32 cases) on record till date that have mostly involved the anterior circulation, occurring between 4 – 15 years of age. Occurrence is associated with profound immunosuppression, and perinatally acquired HIV with latent interval of 5.5 – 11 years to onset of symptoms. Direct causation by HIV is favored as reports demonstrate presence of virus in affected vessels, association with high viral load and, more conclusively, arrest in progression or reversal with early initiation of highly active antiretroviral therapy (HAART). The fusiform nature and location of these aneurysms makes any form of surgical intervention or embolization impossible. High degree of clinical suspicion and awareness of this entity is, therefore, important as this can place young patients at risk for major cerebrovascular accidents.Correspondence to:
Dr. A. Mahadevan; Senior Scientific Officer, Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore 560 029, India
Email: anita_mahadevan@yahoo.com
Euro-CNS News
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