Neurofibromatosis type 1 with multiple tumors and intramedullary neurotuberculosis: a case report and diagnostic review

Authors

  • Thiago do Nascimento Brasil
  • Juliano Tôrres Cerbaro
  • Mohamed Kassem Rocha Assi
  • Roberto Andrade Lima
  • Igor José de Souza
  • Lorena dos Santos Bruce Loureiro

DOI:

https://doi.org/10.34119/bjhrv9n1-178

Keywords:

neurofibromatosis type 1, meningioma, intramedullary tumors, neurotuberculosis

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder characterized by cutaneous and neurological manifestations and a predisposition to central and peripheral nervous system tumors. The coexistence of NF1 with multiple neuroaxis tumors and central nervous system infections, such as neurotuberculosis, is rare and represents a significant diagnostic and therapeutic challenge. We report the case of a young female patient with clinical and radiological findings consistent with NF1, presenting multiple intracranial lesions, including a sphenoid wing meningioma, who subsequently developed a cervical intramedullary lesion initially suspected to be neoplastic but ultimately confirmed as neurotuberculosis by histopathological and cerebrospinal fluid analyses. This case highlights the diagnostic difficulties in distinguishing neoplastic from infectious processes in patients with neurocutaneous syndromes and underscores the importance of integrated clinical, radiological, histopathological, and laboratory correlation.

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Published

02/12/2026

How to Cite

BRASIL, T. do N.; CERBARO, J. T.; ASSI, M. K. R.; LIMA, R. A.; SOUZA, I. J. de; LOUREIRO, L. dos S. B. Neurofibromatosis type 1 with multiple tumors and intramedullary neurotuberculosis: a case report and diagnostic review. Brazilian Journal of Health Review, [S. l.], v. 9, n. 1, p. e85673, 2026. DOI: 10.34119/bjhrv9n1-178. Disponível em: https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/85673. Acesso em: 20 oct. 2026.

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Section

Original Papers