Neuropediatrics 2004; 35(5): 307-311
DOI: 10.1055/s-2004-821253
Short Communication

Georg Thieme Verlag KG Stuttgart · New York

Large-Cell Medulloblastoma in Aicardi Syndrome. Case Report and Literature Review

L. Palmér1 , C. Nordborg2 , K. Steneryd3 , P. Åman4 , M. Kyllerman5
  • 1Department of Paediatrics, Umeå University Hospital, Umeå, Sweden
  • 2Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden
  • 3Department of Radiology, The Queen Silvia Children's Hospital, University of Göteborg, Göteborg, Sweden
  • 4Lundberg Laboratory for Cancer Research, The Sahlgrenska Academy, University of Göteborg, Göteborg, Sweden
  • 5Department of Paediatric Neurology, The Queen Silvia Children's Hospital, University of Göteborg, Göteborg, Sweden
Further Information

Publication History

Received: March 12, 2004

Accepted after Revision: July 15, 2004

Publication Date:
08 November 2004 (online)

Abstract

An eight-year-old girl with Aicardi syndrome (AIC) developed signs of increased intracranial pressure. A clinical and radiological investigation revealed a tumor in the posterior fossa, which was resected. The histopathological diagnosis was large-cell medulloblastoma. Eight months later, she died of a local recurrence, despite treatment with chemotherapy and radiotherapy according to a PNET protocol. In addition to the growth of a large-cell medulloblastoma at the location of the primary tumor and the meningeal spread of the tumor, the autopsy revealed major cortical and subcortical malformations of the brain. Various benign (e.g., plexus papillomas) and malignant tumors (angiosarcoma, embryonic carcinoma, and hepatoblastoma) have been reported in connection with Aicardi syndrome. A genetic analysis of AIC suggests that the mutation is localized on the distal part of the short arm of the X chromosome, an area that may be of importance for tumor development. This is the first report of a primary malignant brain tumor - large-cell medulloblastoma - in a patient with Aicardi syndrome.

References

  • 1 Aicardi J, Lefebre J, Levique-Kaechlin A. A new syndrome: spasm in flexion, callosal agenesis, and ocular abnormalities.  Electroencephalog Clin Neurophysiol. 1965;  19 609-610
  • 2 Aicardi J, Chevrie J J, Rousselle F. Le syndrôme spasms en flexion, agénésie calleuse, anomalies chorio-retiniennes.  Arch Fr Pediatr. 1969;  26 1103-1120
  • 3 Ballabio A, Andria G. Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.  Hum Molec Genet. 1992;  1 221-227
  • 4 Bannister C M, Russel S A, Rimmer S, Mowle D H. Fetal arachnoid cysts: their site, progress, prognosis and differential diagnosis.  Eur J Pediatr Surg. 1999;  9 (Suppl 1) 27-28
  • 5 Barkovich A J. Anomalies of the corpous callosum and cortical malformations. Barth PG Disorders of Neuronal Migration. ICNA Series. London, England; Mac Keith Press 2003: 83-103
  • 6 Brown H G, Kepner J L, Perlman E J, Friedman H S, Strother D R, Duffner P K, Kun L E, Goldthwaite P T, Burger P C. Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. “Large cell/anaplastic” medulloblastomas: a Pediatric Oncology Group Study.  J Neuropathol Exp Neurol. 2000;  59 857-865
  • 7 Giangaspero F, Rigobello L, Badiali M, Loda M, Andreini L, Basso G, Zorzi F, Montaldi A. Large cell medulloblastomas. A distinct variant with highly aggressive behaviour.  Am J Surg Pathol. 1992;  16 687-693
  • 8 Hennekam R CM, Barth P G. Syndromic cortical dysplasias: a review. Barth PG Disorders of Neuronal Migration. ICNA Series. London, England; Mac Keith Press 2003: 135-169
  • 9 Hopkins I J, Humphrey I, Keith G G, Susman M, Webb G C, Turner E K. The Aicardi syndrome in a 47, XXY male.  Aust Pediatr J. 1979;  15 278-280
  • 10 Kiristioglu I, Kilic N, Gurpinar A N, Dogruyol H. Aicardi syndrome associated with palatal hemangioma.  Eur J Pediatr Surg. 1999;  9 325-326
  • 11 Kishi T, Sakura N, Sawano K, Nishi Y, Usui T. The Aicardi Syndrome, case report and review of the literature.  Shonika Rinsho (Tokyo). 1982;  35 2643-2655 (in Japanese)
  • 12 Lorenz B, Hasenfratz G, Laub M C, Baierl P. Retrobulbar cysts in Aicardi's syndrome.  Ophthalmic Paediatr Genet. 1991;  12 105-110
  • 13 Map of Human X-chromosome at http://www.ncbi.nlm.nih.gov/mapview/maps.cgi
  • 14 McLaughlin E R, Brown L F, Weiss S W, Mulliken J B, Perez-Atayde A, Arbiser J L. VEGF and its receptors are expressed in a pediatric angiosarcoma in a patient with Aicardi's syndrome.  J Invest Dermatol. 2000;  114 1209-1210
  • 15 NOPHO - The Nordic Society of Pediatric Oncology and Hematology .The Nordic Childhood Cancer Registry. Helsinki; NOPHO 2002
  • 16 Rosser T L, Acosta M T, Packer R J. Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females.  Pediatr Neurol. 2002;  27 343-346
  • 17 Tagawa T, Mimaki T, Ono J, Tanaka J, Imai K, Yabuuchi H. Aicardi syndrome associated with an embryonal carcinoma.  Pediatr Neurol. 1989;  5 45-47
  • 18 Taggard D A, Menezes A H. Three choroid plexus papillomas in a patient with Aicardi syndrome. A case report.  Pediatr Neurosurg. 2000;  33 219-223
  • 19 Tanaka T, Takakura H, Takashima S, Kodama T, Hasegawa H. A rare case of Aicardi syndrome with severe brain malformation and hepatoblastoma.  Brain Dev. 1985;  7 507-512
  • 20 Trifiletti R R, Incorpora G, Polizzi A, Cocuzza M D, Bolan E A, Parano E. Aicardi syndrome with multiple tumors: a case report with literature review.  Brain Dev. 1995;  17 283-285
  • 21 Tsao C Y, Sommer A, Hamoudi A B. Aicardi syndrome, metastatic angiosarcoma of a leg, and scalp lipoma.  Am J Med Genet. 1993;  45 594-596
  • 22 WHO .World Health Organization Classification of Tumors. Kleihues P, Cavenee WK Pathology and Genetics of Tumors of the Nervous System. Lyon; IARC Press 2000: 129-137

Dr. Lars Palmér

Department of Paediatrics
Umeå University Hospital

901 85 Umeå

Sweden

Email: lars.palmer@vll.se

    >