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Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas?

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Abstract

Introduction

Cancer-prone genetic disorders are responsible for brain tumors in a considerable proportion of children. Additionally, rare genetic syndromes associated to cancer development may potentially disclose genetic mechanisms related to oncogenesis.

Method

We describe two pediatric patients with encephalocraniocutaneous lipomatosis (ECCL), a very rare genetic syndrome with around 60 reported cases, which developed low-grade astrocytoma at 3 and 12 years of age.

Results

Patients with ECCL seem to be at risk of benign forms of osseous tumors such as ossifying fibromas, odontomas, and osteomas.

Conclusion

The association between brain tumor and ECCL was previously reported only once, in a pediatric case of a mixed neuronal–glial histology. Whether ECCL may be a genetic condition of predisposing brain tumor in children strongly needs to be addressed.

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Acknowledgments

This research was supported by Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP Proc. Nos. 2010/15717-0 and 2010/16652-9).

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Authors and Affiliations

  1. Department of Pediatrics, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil

    Elvis Terci Valera, María Sol Brassesco, Carlos Alberto Scrideli & Luiz Gonzaga Tone

  2. Department of Pathology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil

    Marcus Vinicius de Castro Barros

  3. Division of Radiology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil

    Antonio Carlos Santos

  4. Division of Neurosurgery, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil

    Ricardo Santos Oliveira & Hélio Rubens Machado

  5. Departamento de Pediatria, Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto–USP, Ribeirão Preto, SP, Brazil

    Elvis Terci Valera

Authors
  1. Elvis Terci Valera
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  2. María Sol Brassesco
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  3. Carlos Alberto Scrideli
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  4. Marcus Vinicius de Castro Barros
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  5. Antonio Carlos Santos
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  6. Ricardo Santos Oliveira
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  7. Hélio Rubens Machado
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  8. Luiz Gonzaga Tone
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Corresponding author

Correspondence to Elvis Terci Valera.

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Valera, E.T., Brassesco, M.S., Scrideli, C.A. et al. Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas?. Childs Nerv Syst 28, 19–22 (2012). https://doi.org/10.1007/s00381-011-1601-z

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  • DOI: https://doi.org/10.1007/s00381-011-1601-z

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