Download PDF
Neuropediatrics 2007; 38(02): 105-108
DOI: 10.1055/s-2007-985136
Short Communication

Familial Spinal Neurofibromatosis

I. Pascual-Castroviejo
1   Pediatric Neurology Service, University Hospital La Paz, Madrid Spain
,
S.-I. Pascual-Pascual
1   Pediatric Neurology Service, University Hospital La Paz, Madrid Spain
,
R. Velazquez-Fragua
1   Pediatric Neurology Service, University Hospital La Paz, Madrid Spain
,
P. Botella
2   Pediatry, Hospital Txagorritxu, Vitoria, Spain
,
J. Viazo
3   Imagen Unit, Sanatorio Nuestra Sra del Rosario, Madrid, Spain
› Author Affiliations
› Further Information
Also available at
    Permissions and Reprints

Abstract

Familial spinal neurofibromatosis (FSNF) is a rare localized subtype of NF1 which shows neurological symptomatology during adult life. Only a few families have been reported to date. We describe a family in which three members in two generations, mother, son and daughter, were affected. The patients, aged 48, 22 and 18 years, had spinal bilateral neurofibromas affecting all spinal roots. Spinal symptoms were not present in any of the patients. However, the son had generalized nerve sheath tumors that caused important signs of peripheral neuropathy. The daughter also had benign tumors that involved the left optic nerve and chiasm and the left cerebellar hemisphere. The spinal neurofibromas underwent an important growth in size between 20 and 22 years of age. A specific mutation G848R, 2542 G > C in NF1 exon 16 was present in all three patients.

Key words

Neurofibromatosis type I (NF1) - familial spinal neurofibromatosis (FSNF) - spinal neurofibroma - peripheral nerve neurofibroma


Publication History

Received: 13 September 2006

Accepted: 20 June 2007

Publication Date:
22 August 2007 (online)

© 2007. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Ars E, Kruyer H, Gaona A, Casquero P, Rossell J, Volpini V. et al A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.. Am J Hum Genet 1998; 62: 834-841
    CrossrefPubMedSearch in Google Scholar
  • 2 Kaufmann D, Müller R, Bartelt B, Wolf M, Kunzi-Rapp K, Hanemann CO. et al Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.. Am J Hum Genet 2001; 69: 1395-1400
    CrossrefPubMedSearch in Google Scholar
  • 3 Kluwe L, Tatagiba M, Fönsterer C, Mautner VF. NF1 mutations and clinical spectrum in patients with spinal neurofibromas.. J Med Genet 2003; 40: 368-371
    CrossrefPubMedSearch in Google Scholar
  • 4 Messiaen L, Riccardi V, Peltonen J, Maertens O, Callens T, Carbonen SL. et al Independent NF1 mutations in two large families with spinal neurofibromatosis.. J Med Genet 2003; 40: 122-126
    CrossrefPubMedSearch in Google Scholar
  • 5 Pascual-Castroviejo I, Pascual-Pascual SI, Viaro J, Martinez V. Generalized nerve sheath tumors in neurofibromatosis type 1. A case report.. Neuropediatrics 2000; 31: 211-213
    Thieme ConnectPubMedSearch in Google Scholar
  • 6 Poyhonen M, Leisti EL, Kytola S, Leisti J. Hereditary spinal neurofibromatosis: a rare form of NF1?. J Med Genet 1997; 34: 184-187
    CrossrefPubMedSearch in Google Scholar
  • 7 Pulst SM, Riccardi VM, Fain P, Korenberg JR. Familial spinal neurofibromatosis: clinical and DNA linkage analysis.. Neurology 1991; 41: 1923-1937
    CrossrefPubMedSearch in Google Scholar