TY - JOUR
T1 - Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy
T2 - Further expansion of the phenotype
AU - Ruggieri, Martino
AU - Polizzi, Agata
AU - Salpietro, Vincenzo
AU - Incorpora, Gemma
AU - Nicita, Francesco
AU - Pavone, Piero
AU - Falsaperla, Raffaele
AU - Nucifora, Caterina
AU - Granata, Francesca
AU - Distefano, Angela
AU - Padua, Luca
AU - Caltabiano, Rosario
AU - Lanzafame, Salvatore
AU - Gabriele, Annalia
AU - Ortensi, Andrea
AU - D'Orazi, Valerio
AU - Panunzi, Andrea
AU - Milone, Pietro
AU - Mankad, Kshitij
AU - Platania, Nunzio
AU - Albanese, Vincenzo
AU - Pavone, Vito
PY - 2013
Y1 - 2013
N2 - 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.
AB - 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.
KW - brain abnormalities
KW - familial spinal neurofibromatosis
KW - literature review
KW - twins
UR - http://www.scopus.com/inward/record.url?scp=84885072244&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84885072244&partnerID=8YFLogxK
U2 - 10.1055/s-0033-1343350
DO - 10.1055/s-0033-1343350
M3 - Article
C2 - 23780384
AN - SCOPUS:84885072244
VL - 44
SP - 239
EP - 244
JO - Neuropediatrics
JF - Neuropediatrics
SN - 0174-304X
IS - 5
ER -