NEUROFIBROMATOSIS TYPE 2 (NF2) IN A CHILD UNDER 1 YEAR OF AGE: A CLINICAL AND MOLECULAR STUDY (Abstract/Poster in atti di convegno)

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Label
  • NEUROFIBROMATOSIS TYPE 2 (NF2) IN A CHILD UNDER 1 YEAR OF AGE: A CLINICAL AND MOLECULAR STUDY (Abstract/Poster in atti di convegno) (literal)
Anno
  • 2007-01-01T00:00:00+01:00 (literal)
Alternative label
  • Anna Lia Gabriele , Martino Ruggieri , Caterina Nucifora, Alessandra Patitucci, Teresa Sprovieri, Angela Magariello, Rosalucia Mazzei, Francesca Luisa Conforti, Carmine Ungaro, Maria Muglia, Gemma Di Palma , Aldo Quattrone (2007)
    NEUROFIBROMATOSIS TYPE 2 (NF2) IN A CHILD UNDER 1 YEAR OF AGE: A CLINICAL AND MOLECULAR STUDY
    in V INCONTRO DELL'ISTITUTO DI NEUROSCIENZE, CAGLIARI
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Anna Lia Gabriele , Martino Ruggieri , Caterina Nucifora, Alessandra Patitucci, Teresa Sprovieri, Angela Magariello, Rosalucia Mazzei, Francesca Luisa Conforti, Carmine Ungaro, Maria Muglia, Gemma Di Palma , Aldo Quattrone (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • The aim of present study was to identify the earliest (i.e., disease onset < 1 year of age) clinical presentations of neurofibromatosis type 2 (NF2) in childhood and to investigate the presence of NF2 mutations at this young age. A NF2 child had his first disease manifestations under 1 year of age and was prospectively followed up and investigated according to our protocol for paediatric NF2. Molecular analysis of the NF2 gene was carried out by means of Denaturing High Performance Liquid Chromatography (DHPLC) and sequence analysis. The child presented at age 4 months right lens opacities and MRI scan showed colpocephaly and lesions in the posterior periventricular regions. MRI scans at age 8 months confirmed these findings and revealed bilateral vestibular schwannoma and the presence of multiple (> 40) skin NF2-plaques in the limbs. At his last head and spinal MRI the schwannoma and the periventricular lesions did not progress with any additional lesions. Molecular genetic analysis revealed a novel mutation in the exon 3 of the NF2 gene: this mutation was a small insertion of 4 bases pair at codon 94 (c.281_282 ins CCTT). This mutation was not detected in 100 control chromosomes from matched healthy individuals. This is the first time that: (1) a bilateral eight nerve tumour in a NF2 child do not show progression after a long follow-up period; and (2) a NF2 child develops large numbers of skin NF2-plaques in atypical localisations. (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Neurological Sciences (ISN), National Research Council (CNR), Piano Lago di Mangone (CS), Italy ISN, CNR, Section of Catania, Italy Department of Paediatrics, University of Catania, Italy Institute of Neurology, University of Magna Graecia, Catanzaro, Italy (literal)
Titolo
  • NEUROFIBROMATOSIS TYPE 2 (NF2) IN A CHILD UNDER 1 YEAR OF AGE: A CLINICAL AND MOLECULAR STUDY (literal)
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