An autopsy case of a patient with diffuse brainstem glioma associated with Laurence-Moon-(Bardet-)Biedl syndrome is described. The subject was a 25-year-old woman who had been suffering from mental retardation, pigmented retinopathy, obesity, hexadactyly, amenorrhea and renal cysts. She developed dizziness, headache and consequent consciousness disturbance. Magnetic resonance images disclosed marked swelling of the pons without contrast enhancement. By means of combined chemotherapy and radiation, she survived for 15 months. Histopathological diagnosis for postmortem specimens obtained from the brainstem was glioblastoma multiforme. No pathogenetic association between the syndrome and brainstem gliomas is known, and the literature contains no cases of patients with this coincidence.

Keywords:
Autopsy, Brainstem, Chemotherapy, Glioblastoma multiforme, Laurence-Moon-(Bardet-)Biedl syndrome, Radiation
1.
Anderson NL: Laurence-Moon-Biedl syndrome; case report with complete autopsy. J Clin Endocr 1941;1:905–911.
2.
Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O’Leary E, Pryse-Phillips W: The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989;321:1002–1009.
3.
Griffiths GM: The Laurence-Moon-Biedl syndrome. A pathologic report. J Neurol Psychiatry 1938;1:1–6.
4.
Ross CF, Crome L, MacKenzie DY: The Laurence-Moon-Biedl syndrome. J Path Bact 1956;72:161–172.
5.
Diaz LL, Grech KF, Prados MD: Hypothalamic hamartoma associated with Laurence-Moon-Biedl syndrome. Case report and review of the literature. Pediatr Neurosurg 1991;17:30–33.
6.
Hiraki S, Tsutsumi A, Tsuboi S: An autopsy case of Laurence-Moon-Biedl syndrome with pituitary eosinophilic adenoma. Acta Pathol Jpn 1971;21:435–443.
7.
Warkany J: The Laurence-Moon-Biedl syndrome; in Warkany J (ed): Congenital Malformations. Chicago, Year Book Medical Publishers, 1971, pp 176–181.
8.
Hashimoto T, Kumahara Y: Concerning hypogonadism of Laurence-Moon-Biedl syndrome. Metabolism 1979;28:370–372.
9.
Perez-Palacios G, Uribe M, Scaglia H, Lisker R, Pasapera A, Maillard M, Medina M: Pituitary and gonadal function in patients with the Laurence-Moon-Biedl syndrome. Acta Endocrinol (Copenh) 1977;84:191–199.
10.
Soliman AT, Rajab A, Al Salmi I, Asfour MG: Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome. Metabolism 1996;45:1230–1234.
11.
Toledo SP, Medeiros-Neto GA, Knobel M, Mattar E: Evaluation of the hypothalamic-pituitary-gonadal function in the Bardet-Biedl syndrome. Metabolism 1977;26:1277–1291.
12.
Kyritsis AP, Bondy ML, Xiao M, Berman EL, Cunningham JE, Lee PS, Levin VA, Saya H: Germline p53 gene mutations in subsets of glioma patients. J Natl Cancer Inst 1994;86:344–349.
13.
Oka K, Bruner JM, Bondy ML, Ligon K, Nishi T, Giglio AD, Moser RP, Levin VA, Saya H: Detection of P53 alterations in human astrocytomas using frozen tissue sections for the polymerase chain reaction. J Neurooncol 1993;16:125–133.
14.
Jen J, Harpar JW, Bigner SH, Bigner DD, Papadopoulos N, Markowitz S, Willson JKV, Kinzler KW, Vogelstein B: Deletion of p16 and p15 genes in brain tumors. Cancer Res 1994;54:6353–6358.
15.
Kyritsis AP, Zhang B, Zhang W, Xiao M, Takeshima H, Bondy ML, Cunningham JE, Levin VA, Bruner J: Mutations of the p16 gene in gliomas. Oncogene 1996;12:63–67.
16.
Nishikawa R, Furnari FB, Lin H, Arap W, Berger MS, Cavenee WK, Su HH: Loss of P16INK4 expression is frequent in high grade gliomas. Cancer Res 1992;55:1941–1945.
17.
Ueki K, Ono Y, Henson JW, Efird JT, von Deimling A, Louis DN: CDKN2/p16 or RB alterations occur in the majority of glioblastomas and are inversely correlated. Cancer Res 1996;56:150–153.
18.
Nishikawa R, Ji XD, Harmon RC, Lazar CS, Gill GN, Cavenee WK, Huang HJ: A mutant epidermal growth factor receptor common in human glioma confers enhanced tumorigenicity. Proc Natl Acad Sci USA 1994;91:7727–7731.
19.
Sugawa N, Ekstrand AJ, James CD, Collins VP: Identical splicing of aberrant epidermal growth factor receptor transcripts from amplified rearranged genes in human glioblastomas. Proc Natl Acad Sci USA 1990;87:8602–8606.
20.
Yamazaki H, Fukui Y, Ueyama Y, Tamaoki N, Kawamoto T, Taniguchi S, Shibuya M: Amplification of the structurally and functionally altered epidermal growth factor receptor gene (c-erbB) in human brain tumors. Mol Cell Biol 1988;8:1816–1820.
21.
Albarosa R, Colombo BM, Roz L, Magnani I, Pollo B, Cirenei N, Giani C, Conti AM, DiDonato S, Finocchiaro G: Deletion mapping of gliomas suggests the presence of two small regions for candidate tumor-suppressor genes in a 17-cM interval on chromosome 10q. Am J Hum Genet 1996;58:1260–1267.
22.
Fults D, Pedone CA, Thomas GA, White R: Allelotype of human malignant astrocytoma. Cancer Res 1990;50:5784–5789.
23.
James CD, Carlbom E, Dumanski JP, Hansen M, Nordenskjold M, Collins VP, Cavenee WK: Clonal genomic alterations in glioma malignancy stages. Cancer Res 1998;48:5546–5551.
24.
Rasheed BK, McLendon RE, Friedman HS, Friedman AH, Fuchs HE, Bigner DD, Bigner SH: Chromosome 10 deletion mapping in human gliomas: A common deletion region in 10q25. Oncogene 1995;10:2243–2246.
25.
Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA: Bardet-Biedl syndrome: A molecular and phenotypic study of 18 families. J Med Center 1997;34:92–98.
26.
Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, Sunden SL, Stone EM: Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet 1994;3:1331–1335.
27.
Albright AL, Packer RJ, Zimmerman R, Rourke LB, Boyett JM, Hammond GD: Magnetic resonance scans should replace biopsies for the diagnosis of diffuse brain stem gliomas: A report from the children’s cancer group. Neurosurgery 1993;33:1026–1030.
28.
Epstein FJ, Farmer JP: Brain-stem glioma growth pattern. J Neurosurg 1993;78:408–412.
29.
Stroink AR, Hoffman HJ, Hendrick EB, Humphreys RP: Diagnosis and management of pediatric brain-stem gliomas. J Neurosurg 1986;65:745–750.
© 2001 S. Karger AG, Basel
2001
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.