Información adicional
- Num_publicacion 77(5-6)
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Resumen_ingles
Introduction: Aicardi-Goutières syndrome (SAG) is a rare entity with around 200 cases reported. It’s a neurodegenerative disorder with autosomal recessive inheritance, whose etiopathogenesis is not completely deciphered. It’s usually preceded by a period of clinical normality during first months of life, followed by progressive and severe encephalopathy, microcephaly, intracranial calcifications especially at basal ganglia, involvement of the white matter, lymphocytosis and increase of interferon alfa (IFN-) in cerebrospinal fluid (CSF) and blood.
Clinical cases: We report 3 new cases to illustrate this rare and terrible entity, started during lactation period, with typical injures in NMR and elevation of IFN- in the CSF and blood.
Conclusions: SAG is a very rare entity, its symptoms are similar to congenital infections, so its exclusion is essential. Despite the absence of a curative treatment, the diagnosis of SAG is essential for genetic counseling to avoid new cases. - Palabras_clave_ingles Calcifications encephalopathy microcephaly Aicardi Goutières syndrome TORCH
- Todos_autores N. Taibi, J. Rosal Roig, R. González Amador, F. Arasa Panisello, L. Tur Claramunt, L.D. Dougherty de Miguel
- autores listados N. Taibi, J. Rosal Roig, R. González Amador, F. Arasa Panisello, L. Tur Claramunt, L.D. Dougherty de Miguel
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Correspondecia
N. Taibi. Hospital Verge de la Cinta. Esplanetes, 14. 43500 Tortosa (Tarragona). Correo electrónico: nora.tai.84@gmail.com
- Titulo_ingles Not all severe encephalopathy with calcifications and microcephaly is a congenital infection
- Centros_trabajo Servicio de Pediatría. Hospital Verge de la Cinta. Tortosa (Tarragona)
- Publicado en Acta Pediatr Esp. 2019; 77(5-6): e93-e96
- copyright ©2019 Ediciones Mayo, S.A. Todos los derechos reservados
- Fecha recepcion 5/12/17
- Fecha aceptacion 18/07/18
- Tipo de Artículo Clínico (Microdatos) Case Reports
