title: Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.
abstract: 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.
  
  
  OBJECTIVE
  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.
  
  
  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.
authors.affiliation: Chair of Pediatrics, Department of Educational Sciences, University of Catania, Catania, Italy.
authors.forename: Martino
authors.initials: M
authors.lastname: Ruggieri
authors.forename: Agata
authors.initials: A
authors.lastname: Polizzi
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Salpietro
authors.forename: Gemma
authors.initials: G
authors.lastname: Incorpora
authors.forename: Francesco
authors.initials: F
authors.lastname: Nicita
authors.forename: Piero
authors.initials: P
authors.lastname: Pavone
authors.forename: Raffaele
authors.initials: R
authors.lastname: Falsaperla
authors.forename: Caterina
authors.initials: C
authors.lastname: Nucifora
authors.forename: Francesca
authors.initials: F
authors.lastname: Granata
authors.forename: Angela
authors.initials: A
authors.lastname: Distefano
authors.forename: Luca
authors.initials: L
authors.lastname: Padua
authors.forename: Rosario
authors.initials: R
authors.lastname: Caltabiano
authors.forename: Salvatore
authors.initials: S
authors.lastname: Lanzafame
authors.forename: Anna Lia
authors.initials: AL
authors.lastname: Gabriele
authors.forename: Andrea
authors.initials: A
authors.lastname: Ortensi
authors.forename: Valerio
authors.initials: V
authors.lastname: D'Orazi
authors.forename: Andrea
authors.initials: A
authors.lastname: Panunzi
authors.forename: Pietro
authors.initials: P
authors.lastname: Milone
authors.forename: Kshitij
authors.initials: K
authors.lastname: Mankad
authors.forename: Nunzio
authors.initials: N
authors.lastname: Platania
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Albanese
authors.forename: Vito
authors.initials: V
authors.lastname: Pavone
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology*; D019080:Cafe-au-Lait Spots / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004200:Diseases in Twins / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D017253:Neurofibromatoses / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D014430:Twins, Monozygotic / Q000235:genetics