"Vascular neurofibromatosis" and infantile gangrene

American Journal of Medical Genetics
B G Kousseff, E F Gilbert-Barness

Abstract

An 11-year-old boy with slowly progressive gangrene caused by vasculopathy similar to that of neurofibromatosis (NF) type 1 (NF I; von Recklinghausen disease [NFvR]) and a newborn girl with idiopathic gangrene with vascular changes resembling those of NFvR prompted the analysis of all 105 propositi with NF (NF I and NF II) evaluated between January 2, 1982, and December 31, 1986, at the genetics clinic of University of South Florida. They were analyzed for renal hypertension, symptomatic ischemia, and known vascular changes. One additional 27-month-old boy with NFvR was found to have extensive vascular changes with renal hypertension. The vasculopathy indicated asymmetric over/undergrowth of cellular and extracellular components of the vascular wall and implied dysregulation of the paracrine growth mechanism. Immunocytochemical studies of affected vessels were done only in the 11-year-old boy and showed positive neuron-specific enolase, S-100 protein, and glial fibrillary acidic protein (GFAP) reactions indicative of Schwann cell involvement. The vascular changes in children with NFvR are mostly asymptomatic; however hypertension secondary to renal artery stenosis and/or Moya-moya disease have been reported infrequently. Our pa...Continue Reading

References

Sep 21, 1976·Neuroradiology·T A TomsickC Benton
Sep 1, 1974·Angiology·W R Salyer, D C Salyer
Oct 1, 1974·American Journal of Clinical Pathology·J F GreeneJ Burgess
Nov 1, 1974·The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine·Y ItzchakV Deutsch
May 1, 1973·The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine·E MenaW J Fry
Mar 1, 1970·The Journal of Pediatrics·N L Fienman, W C Yakovac
Jan 1, 1984·The American Journal of the Medical Sciences·D Zochodne
Sep 1, 1983·Stroke; a Journal of Cerebral Circulation·J A Garcia-MerinoH Liano
Jan 1, 1984·The Journal of Hand Surgery·W O ShafferT E DuPuy
Aug 1, 1982·Current Problems in Cancer·V M Riccardi
Jan 1, 1982·Stroke; a Journal of Cerebral Circulation·K L Mettinger

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