[Corpus callosum tumor as the presenting symptom of neurofibromatosis type 1 in a patient and literature review]

Rev Neurol. 2012 Nov 1;55(9):528-32.
[Article in Spanish]

Abstract

Introduction: Neurofibromatosis type 1 (NF1) is one of the most frequent neurocutaneous syndromes. NF1 can be associated with intracranial tumors in any location, but only rarely in the corpus callosum.

Aims: To describe a case of NF1 presenting as a tumor of the corpus callosum and to carry out a review of the incidence of the tumors of corpus callosum in our series and in the literature.

Case report: We present a child who was studied since 3 years of age because of complete NF1 clinical diagnostic criteria (without genetic study). He was studied by MR and magnetic resonance spectroscopy (MRS). MR study showed neurofibromatosis bright objects distributed over several regions of the cerebral hemispheres and cerebellum, a possible brain stem tumor (bulbar zone) and the splenium of the corpus callosum. The MRS of the brain stem tumor showed changes consistent with a low grade glial tumor. The patient was followed until 19-years of age without demonstrating any changes in the clinical features or the tumor size in both locations Only six cases of corpus callosum tumor in patients with NF1 have been published to date.

Conclusions: We present a new case with tumor of the corpus callosum and NF1. The imaging characteristics and the clinical course were in favour of the benign nature of this type of tumor.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Brain Neoplasms / chemistry
  • Brain Neoplasms / genetics*
  • Brain Stem Neoplasms / chemistry
  • Brain Stem Neoplasms / genetics
  • Brain Stem Neoplasms / pathology
  • Cerebellar Neoplasms / chemistry
  • Cerebellar Neoplasms / genetics
  • Cerebellar Neoplasms / pathology
  • Child, Preschool
  • Choline / analysis
  • Corpus Callosum / pathology*
  • Creatinine / analysis
  • Disease Progression
  • Follow-Up Studies
  • Glioma / chemistry
  • Glioma / diagnosis
  • Glioma / genetics*
  • Glioma / pathology
  • Humans
  • Inositol / analysis
  • Magnetic Resonance Imaging
  • Male
  • Neoplasms, Multiple Primary / diagnosis
  • Neoplasms, Multiple Primary / genetics
  • Neoplasms, Multiple Primary / pathology
  • Neuraminic Acids / analysis
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / pathology
  • Nuclear Magnetic Resonance, Biomolecular
  • Psychomotor Performance
  • Tumor Burden

Substances

  • Neuraminic Acids
  • Inositol
  • Creatinine
  • Choline