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Abstract

B.F.M. Romeike and W. Wuyts

¹Institute of Neuropathology, Saarland University School of Medicine, Homburg, Germany and ²Department of Medical Genetics, University and University Hospital of Antwerp, Wilrijk, Belgium
The proximal chromosome 11p contiguous gene deletion syndrome (P11pDS), also known as Potocki-Shaffer syndrome (PSS) or DEFECT 11 (OMIM 601224), is a disorder associated with foramina parietalia permagna and multiple osteochondroma (exostoses). Additional features include mental retardation, craniofacial anomalies, seizures and genitourinary abnormalities. Here, clinico-pathological findings of a unique patient with all of these features and, additionally, enlarged ventricles, hypertrophic obstructive cardiomyopathy and adipositas are described. The brain showed malformative lesions with hallmarks of disturbed bulk growth including micrencephaly, periventricular nodular heterotopias and focal cortical dysplasia in the nodulus of the cerebellar vermis. In addition, symmetric foci with vacuolation of the underlying neuropil, intermingled macrophages and large bizarre, partially vacuolated, reactive astrocytes were found. The proximal short arm of chromosome 11 harbors several candidate genes that could explain the patient’s signs and symptoms including ALX4 and EXT2, which are always present in the interstitial deletion of the short arm of chromosome 11 in PSS. In addition, MYBPC3 would be a good candidate for the hypertrophic cardiomyopathy. Furthermore, adipositas might be related to the MAPK8IP1 gene. To the best of our knowledge, the present patient is the oldest one so far described with PSS phenotype and the only case that has undergone detailed neuropathological investigation.Correspondence to:
B.F.M. Romeike, MD; Institute of Neuropathology, Saarland University, School of Medicine 66421 Homburg/Saar, Germany
Email: bernd.romeike@uniklinikum-saarland.de

Abstract

F. Alameda, J. Lloreta, A. Ariza, M. Salido, B. Espinet, T. Baro, G. Garcia-Fructoso, E. Galito, A. Munne, F.F. Cruz Sanchez, F. Sole and S. Serrano

Departments of ¹Pathology and ²Neurosurgery, Hospital del Mar, ³Department of Pathology, Hospital Germans Trias, Autonomous University of Barcelona, Pompeu Fabra University, ⁴International University of Catalunya, Barcelona, Spain
Primitive neuroectodermal tumors (PNETs) of the central nervous system (CNS), a rare occurrence in adults, may show glial differentiation and can be misinterpreted as pure astrocytic neoplasms. Few fluorescence in situ hybridization (FISH) studies have been carried out on these tumors; isochromosome 17q was found to be the major chromosomal abnormality. We present the case of an adult in which we performed a FISH study of both the glial and neuronal components. A complex array of FISH changes, not including an isochromosome 17q were identified.Correspondence to:
F. Alameda, MD; Department of Pathology, Hospital del Mar, Passeig Maritim 25-29, 08003 Barcelona, Spain
Email: 86780@imas.imim.es

Abstract

Y. Miyajima, H. Oka, S. Utsuki, Y. Tanizaki, S. Shimizu, S. Suzuki and K. Fujii

Department of Neurosurgery, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan
We report a usual case of papillary meningioma arising from tentorium cerebelli occurring in a 13-year-old boy. This patient presented a 3-month history of a mildly poor coordination of the left side of his body. Computed tomography showed a homogenous enhanced mass lesion in the left posterior fossa. At surgery, gross total resection of the tumor was accomplished. Upon microscopic examination, some tumor cells were arranged in the papillary pattern and a resulting diagnosis of papillary meningioma was made. Electron microscopic studies showed typical meningioma features such as interdigitations and desmosomes, which were, however, detectable in only few tumor cells. Cytological and ultrastructural features of pediatric papillary meningioma and of high-grade meningioma in general are sparse. Since papillary meningioma rarely presents in children, we report this case and review the literature.Correspondence to:
H. Oka, MD; Department of Neurosurgery, Kitasato University School of Medicine, Sagamihara, Kanagawa 228-855, Japan
Email: okahiro@med.kitasato-u.ac.jp

Abstract

H. Takei, J.C. Goodman and S.Z. Powell

¹Department of Pathology, Baylor College of Medicine, ²Department of Pathology, The Methodist Hospital, Houston, TX, USA
Three cases of cerebral phaeohyphomycosis are described. Two cases (Cases 1, 2) are caused by highly neurotropic fungi, Cladophialophora bantiana, and the other one (Case 3) is the first reported case in the United States, caused by the newly defined Fonsecaea monophora. (Case 1): A 65-year-old woman had been treated for a presumed diagnosis of Guillain-Barré syndrome and was found to have a ring-enhancing, fluid-filled lesion in the right frontal lobe. The lesion was aspirated twice and then resected completely. (Case 2): A 45-year-old woman with a history of severe dermatomyositis presented with subacute ischemia in the left brainstem. Approximately 2 months later, she developed acute obstructive hydrocephalus and was found to have small cystic lesions in the left ambient cistern, fourth ventricle and cerebral aqueduct, which had probably caused the previous ischemic symptoms due to emboli/ thrombi. (Case 3): A 62-year-old, post livertransplant woman developed multiple brain and bone abscesses. Cultures from these lesions grew the same fungi. Histologically, all three cases revealed multiple epithelioid and giant cell granulomata with groups of golden-brown yeast-like cells as well as chains of budding cells. In Case 3, scattered muriform cells, characteristic of chromoblastomycosis, were present. In Cases 2 and 3, the fungi were easily identified on frozen sections, which may be considered useful in determining post-operative therapy.Correspondence to:
H. Takei, MD; Department of Pathology, The Methodist Hospital, 6565 Fannin Street, Houston, TX 77030, USA
Email: takei327@aol.com

Abstract

D. Vincent, B. Gombert, A. Vital and C. Vital

¹Service de Neurologie, ²Clinique Médicale, C.H. La Rochelle, ³Laboratoire de Neuropathologie, Université Victor Segalen, Bordeaux, France
Objective: To elucidate the cause and mechanisms of nerve fiber lesions in a case of mononeuropathy multiplex (MNM). Material and methods: A 65-year-old man had a MNM for 6 months and no previous history of peripheral nerve impairment was known. He underwent a muscle and nerve biopsy by the same skin incision on the right leg. Results: Paraffin-embedded fragments from the superficial peroneal nerve and peroneous brevis muscle disclosed characteristic lesions of necrotizing vasculitis. Complement had low levels, but a search for cryoglobulinemia was negative. Two months later a purpura appeared in the lower limbs and a mixed Type II cryoglobulinemia was disclosed, whereas a search for hepatitis C virus (HCV) remained negative. Five months later the blood contained 8,600 lymphocytes/mm3 and a low grade B cell lymphoma was disclosed in the bone marrow. Conclusions: Although not having HCV infection, our patient had mixed Type II cryoglobulinemia, necrotizing vasculitis and B cell lymphoma. Each of these three abnormalities might be in part responsible for nerve fibers impairment, with acute axonal degeneration. Mixed cryoglobulinemia must be searched carefully in patients with vasculitic neuropathy.Correspondence to:
A. Vital; Laboratoire de Neuropathologie, Université Victor Segalen Bordeaux 2-146, rue Léo Saignat Case 42-33076 Bordeaux Cedex, France
Email: anne.vital@chu-bordeaux.fr

Abstract

M. Jedrejko, A. Skoczynska, D. Wolowiec and A. Affelska-Jercha

¹Department of Internal Medicine, ²Department of Hematology, Wroclaw Medical University, Poland

Abstract

S. Pistolesi, M. Masini, G. Alì, S. Nuti, J. D’ Agostino, M. Mancuso, L. Volpi, R. Galli, G. Siciliano and G. Fontanini

¹Department of Surgery, ²Unit of Electron Microscopy, University of Pisa,
³Unit of Neurophysiopathology, Lotti Hospital, Pontedera (Pisa) and
⁴Department of Neuroscience, University of Pisa, Pisa, Italy
Correspondence to:
G. Fontanini; Department of Surgery, Unit of Pathology, University of Pisa, Via Roma 57, 56126 Pisa, Italy
Email: g.fontanini@do.med.unipi.it

Abstract

M. Chaney and I. Vajtai

¹Department of Autopsy and ²Department of Clinical Histopathology, Neuropathology Service, Institute of Pathology, University of Bern, Switzerland
Correspondence to:
Istvan Vajtai, MD; Institute of Pathology, University of Bern, Murtenstrasse 31, PO Box 62, 3010 Berne, Switzerland
Email: istvan.vajtai@pathology.unibe.ch

Abstract

K.A. Jellinger

Institute for Clinical Neurobiology, Vienna, Austria

Abstract

E.J. Rushing

Department of Neuropathology and Ophthalmic Pathology, Armed Forces Institute of Pathology, Washington, DC, USA

Abstract

Euro-CNS

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Volume 26, No. 1/2007(Jan/Feb)