Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: Further expansion of the phenotype (Articolo in rivista)

Type
Label
  • Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: Further expansion of the phenotype (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1055/s-0033-1343350 (literal)
Alternative label
  • 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. (2013)
    Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: Further expansion of the phenotype
    in Neuropediatrics
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#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. (literal)
Pagina inizio
  • 239 (literal)
Pagina fine
  • 244 (literal)
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  • http://www.scopus.com/inward/record.url?eid=2-s2.0-84885072244&partnerID=q2rCbXpz (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 44 (literal)
Rivista
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  • 5 (literal)
Note
  • Scopu (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Department of Educational Sciences, University of Catania, Via Casa Nutrizione 1, 95124 Catania, Italy; Unit of Neurosurgery, Department of Neurosciences, University of Catania, Catania, Italy; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy; Institute of Neurological Sciences, National Research Council, Catania, Italy; Unit of Genetics and Paediatric Immunology, Department of Pediatrics, University of Messina, Messina, Italy; Unit of Pediatrics, ARNAS Hospital Garibaldi, Catania, Italy; Division of Child Neurology, Department of Pediatrics, University of Rome la Sapienza, Rome, Italy; Unit of Pediatrics Costanza Gravina, University Hospital, Policlinico-Vittorio Emanuele, Catania, Italy; Unit of Pediatrics and Neonatology, Civic Hospital, Siracusa, Italy; Unit of Neuroradiology, University of Messina, Messina, Italy; Unit of Nuclear Medicine, Institute of Neurological Sciences, National Research Council, Catania, Italy; Unit of Clinical Neurophysiology, Catholic University of Sacred Heart, Rome, Italy; Department G.F. Ingrassia, Section of Anatomic Pathology, University of Catania, Catania, Italy; Unit of Molecular Genetics, Institutes for Mediterranean Agriculture and Forest Systems (ISAFOM), National Research Council (CNR), Renda (CS), Italy; Unit of General Microsurgery and Hand Surgery, University of Rome la Sapienzao and Hospital Fabia Mater, Rome, Italy; Unit of Neuroradiology, Institute of Radiology, University of Catania, Catania, Italy; Unit of Pediatric Neuroradiology, Great Ormond Street Hospital, London, United Kingdom; Institute of Orthopaedics, University Hospital Policlinico-Vittorio Emanuele, Catania, Italy (literal)
Titolo
  • Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: Further expansion of the phenotype (literal)
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. 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. (literal)
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