Síndromes de Prader-Willi y de Angelman: Expriencia de 21 años

• Autores: Delia Royo Pérez, Lorena Monge Galindo, Javier López Pisón, R. Pérez Delgado, Miguel Lafuente Hidalgo, José Luis Peña Segura, M. Dolores Miramar Gallart, Ana Rodríguez Valle, María Teresa Calvo Martín
• Localización: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), ISSN-e 1696-4608, ISSN 1695-4033, Vol. 77, Nº. 3, 2012, págs. 151-157
• Idioma: español
• Títulos paralelos:
  • Prader-willi and angelman syndromes: 21 years of experience
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• Resumen

  • Introduction: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) were the ?rst syndromes in humans that were known to originate from the phenomenon of the genomic imprinting.

    We review our experience of 21 years with PWS and AS that were con?rmed with the genetically.

    Results: Of the 13,875 patients recorded during the study period, 11 were diagnosed with PWS (18%), 7 males (63.6%) and 4 females (36.4%), with a mean age of 9.06 years (+/- 6.92, range:

    0.68-21.6). The time of the follow up of this group was 3.83 years (+/- 4.03, range: 0.49-15.3), and the age at diagnosis was 4.4 years (+/- 6.84, range: 0.03-19.38). Almost three quarters (72.7% of the PWS patients had a uniparental dysomy and 27.3% a paternal deletion. Six patients (8%) were diagnosed with AS, 4 females (66.6%) and 2 males (33.4%), with a mean age of 14.65 years (+/- 11.89, range: 1.3-30.7). The time of follow up was 6.76 years (+/- 5.89,range: 0.16- 15), and the age at diagnosis was 8.84 years (+/- 9.11, range: 1.10-23). A maternal deletion was present in 83.3% of the AS patients and 16.7% had a maternal dysomy.

    Discussion: As genetic advances are made these pathologies are con?rmed before. Unlike the data in the literature, in our series most patients diagnosed with PWS (72�3%) had uniparental disomy. Recent studies correlation genotype with phenotype, in PWS is more serious if it occurs a deletion and in SA is milder in the case of uniparental disomy.

    Conclusions: Genetic studies must be performed in view of the established clinical symptoms:

    neonatal hypotonia of unknown cause in PWS and psychomotor de?cits with autism features, particularly associated with epilepsy, must be evaluated in AS to prevent diagnostic uncertainties, unnecessary complementary examinations and to provide early genetic counselling.