Trastornos congénitos de la glucosilación: Estudio de 2 pacientes
- Autores: R. Palencia, N. Higuera, S. Vázquez
- Localización: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), ISSN-e 1696-4608, ISSN 1695-4033, Vol. 76, Nº. 3, 2012, págs. 153-155
- Idioma: español
- Títulos paralelos:
- Congenital glycosylation disorders: A study of two patients
- Enlaces
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Resumen
Background Congenital glycosylation disorders (CGDs) are a group of disorders caused by a defect in glycoprotein synthesis. Clinical manifestations may affect to different organs.
Aims To describe two new patients cases with a CGD in order to make paediatricians aware of this disorder.
Clinical cases Two new cases of different age and gender are presented, showing clinical manifestations, and radiological and laboratory findings compatible with CGD. One of the cases was followed up for several years.
Conclusions Glycosylation disorders are a group of conditions to bear in mind when considering the diagnosis of a patient with neurological symptoms of unexplained origin, particularly in those cases that include a delay in psychomotor activity, low muscle tone, epilepsy, and hepatic or coagulation disorders, as well as in patients with cerebellar or olivopontocerebellar atrophy.
