Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype

Neuropediatrics. 2013 Oct;44(5):239-44. doi: 10.1055/s-0033-1343350. Epub 2013 Jun 18.


Background: Familial spinal neurofibromatosis is a form of neurofibromatosis 1 (NF1), consisting of extensive, symmetrical, histologically proven, multiple neurofibromas of the spinal roots at every level and of all major peripheral nerves sometimes associated with typical NF1 stigmata; most cases underlie NF1 gene mutations.

Objectives: The objectives of this study are (1) to report the findings in a set of 16-year-old monozygotic twin girls and a 14-year-old boy and (2) to review the existing literature.

Methods and results: In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature.

Conclusions: This article presents the first report on (1) spinal neurofibromatosis in a set of affected monozygotic twins; (2) the earliest onset of the disease; and (3) the occurrence of high signal lesions in the brain at MRI.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Brain / pathology*
  • Cafe-au-Lait Spots / complications
  • Cafe-au-Lait Spots / diagnosis*
  • Cafe-au-Lait Spots / genetics
  • Diseases in Twins / diagnosis*
  • Diseases in Twins / genetics
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Neurofibromatoses / complications
  • Neurofibromatoses / diagnosis*
  • Neurofibromatoses / genetics
  • Phenotype*
  • Twins, Monozygotic / genetics

Supplementary concepts

  • Neurofibromatosis, Familial Spinal