2011, Número 5
<< Anterior Siguiente >>
Acta Pediatr Mex 2011; 32 (5)
Síndrome de Gómez-López-Hernández (displasia cerebelo-trigéminodérmica). Informe de un caso
Zaldívar-Pascua G, Dávila-Gutiérrez G, Fernández-Álvarez H
Idioma: Español
Referencias bibliográficas: 16
Paginas: 292-296
Archivo PDF: 173.55 Kb.
RESUMEN
El síndrome de Gómez-López-Hernández o displasia cerebelo-trigemino-dérmica es un síndrome neurocutáneo infrecuente, sin etiología conocida, conformado por una triada: rombencefalosinapsis, anestesia trigeminal y alopecia parietal o parieto-occipital. Informamos el caso de una lactante mexicana de un año y siete meses de edad con un fenotipo y estudios de neuroimagen característicos, pero sin ataxia. Comparamos los datos de la paciente con los informados hasta el momento en la literatura.
REFERENCIAS (EN ESTE ARTÍCULO)
Gomez MR. Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome. Brain Dev 1979;1:253-56.
López-Hernández A. Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases. Neuropediatrics 1982;13:99-102.
Schell-Apacik C, Cohen M, Vojta S. Gómez–López-Hernández syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature. Eur J Pediatr 2008;167:123–6.
Tan TY, McGillivray G, Goergen SK, White SM. Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature. Am J Med Genet A. 2005;138:369-73.
Fernandez-Jaen A, Fernandez-Mayoralas D, Calleja-Perez, Muñoz-Jareño N, Moreno N. Gomez–Lopez-Hernandez syndrome: two new cases and review of the literature. Pediatr Neurol 2009;40:58–62.
Muñoz RM, Santos AC, Graziadio C. Cerebellotrigeminaldermal dysplasia (Gomez–Lopez-Hernandez syndrome): description of three new cases and review. Am J Med Genet 1997;72:34–39.
Sukhudyan B, Jaladyan V, Melikyan G, Schlump JU, Boltshauser E, Poretti A. Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria. Eur J Pediatr 2010;169:1523-8.
Poretti A, Bartholdi D, Gobara S. Gomez–Lopez-Hernandez syndrome: an easily missed diagnosis. Eur J Med Genet 2008;51:197–208.
Gomy I, Heck B, Santos AC, Figueiredo M, Martinellie E, Noriea M, et al. Two new Brazilian patients with Gómez–López-Hernández syndrome: reviewing the expanded phenotype with molecular insights. Am J Med Genet A 2008;51:197-208.
Truwit C, Barkovich J, Sanan R, Haroldo T. MR imaging of rhombencephalosynapsis: report of three cases and review of the literatura. Am J Neuroradiol 1991;22:957-65.
Utsunomiya H, Takano K, Ogasawara T. Rhombencephalosynapsis: cerebellar embryogenesis. Am J Neuroradiol 1998;19:547-9.
Castillo M, Mukherji S. Developmental infratentorial anomalies. In: Imaging of the pediatric head, neck and spine. Philadelphia: Lippincott-Raven; 1996. p. 91-3.
Wassef M, Joyner A. Early mesencepalon/metencephalon patterning and development of the cerebelum. Perspect Dev Neurobiol 1997;5:3-16.
Sarnat HB. Molecular genetic classification of central nervous system malformations. J Child Neurol 2000;15:675-87.
Yachnis AT. Rhombencephalosynapsis with massive hydrocephalus: case report and pathogenic considerations. Acta Neuropathol 2002;103:301-4.
Chemli J, Abroug M, Tlili K, Harbi A. Rombencephalosynapsis diagnosed in childhood: Clinical and MRI findings. Euro J Paediatr Neurol 2007;11:35-8.