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

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العنوان: Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype
المؤلفون: Angela Distefano, Caterina Nucifora, Luca Padua, Rosario Caltabiano, Francesco Nicita, Francesca Granata, A. L. Gabriele, Vito Pavone, Kshitij Mankad, A. Panunzi, Piero Pavone, Raffaele Falsaperla, Gemma Incorpora, Pietro Milone, N. Platania, Salvatore Lanzafame, Andrea Ortensi, Martino Ruggieri, Vincenzo Albanese, Agata Polizzi, Vincenzo Salpietro, Valerio D'Orazi
المصدر: Neuropediatrics 44 (2013): 239–244. doi:10.1055/s-0033-1343350
info:cnr-pdr/source/autori:Ruggieri M.; Polizzi A.; Salpietro V.; Incorpora G.; Nicita F.; Pavone P.; Falsaperla R.; Nucifora C.; Granata F.; Distefano A.; Padua L.; Caltabiano R.; Lanzafame S.; Gabriele A.; Ortensi A.; D'Orazi V.; Panunzi A.; Milone P.; Mankad K.; Platania N.; Albanese V.; Pavone V./titolo:Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: Further expansion of the phenotype/doi:10.1055%2Fs-0033-1343350/rivista:Neuropediatrics/anno:2013/pagina_da:239/pagina_a:244/intervallo_pagine:239–244/volume:44
سنة النشر: 2013
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Pediatrics, Adolescent, Neurofibromatoses, literature review, Central nervous system, Monozygotic twin, Disease, Gene mutation, familial spinal neurofibromatosis, Monozygotic, brain abnormalities, Basal ganglia, Diseases in Twins, Humans, Medicine, Missense mutation, Genetic Testing, Neurofibromatosis, Genetic testing, Familial spinal neurofibromatosis, twins, medicine.diagnostic_test, business.industry, Cafe-au-Lait Spots, Brain, Twins, Monozygotic, General Medicine, medicine.disease, Female, Phenotype, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Neurology (clinical), business
الوصف: 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. © 2013 Georg Thieme Verlag KG Stuttgart.
اللغة: English
DOI: 10.1055/s-0033-1343350
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05e756cbf94f5e992d0ad584bd145118
http://hdl.handle.net/10807/54009
Rights: OPEN
رقم الانضمام: edsair.doi.dedup.....05e756cbf94f5e992d0ad584bd145118
قاعدة البيانات: OpenAIRE
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