ENCEFALOMALACIA QUISTICA PDF

Introduction: Aicardi-Goutieres syndrome is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, microcephaly, alterations in the white matter of the brain, intracranial calcifications, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid. It is associated to an increase in the expression of genes stimulated by interferon in peripheral blood, a fact known as the interferon signature. The levels of genes stimulated by interferon has been postulated as a good biomarker, as they remain high in peripheral blood over time and are more sensitive, in comparison to determinations of interferon alpha and neopterins in cerebrospinal fluid, which descend as of one year of life. To date, mutations have been reported in seven genes that overstimulate the interferon alpha pathway, and the last to be discovered is IFIH1 interferon induced with helicase C domain 1 , with a pattern of dominant autosomal inheritance. Case report: We present the first case reported in the Hispanic literature caused by a de novo mutation in the IFIH1 gene. The clinical features, studies conducted and review of the clinical, neuroradiological and genetic aspects are described.

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Introduction: Aicardi-Goutieres syndrome is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, microcephaly, alterations in the white matter of the brain, intracranial calcifications, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid.

It is associated to an increase in the expression of genes stimulated by interferon in peripheral blood, a fact known as the interferon signature. The levels of genes stimulated by interferon has been postulated as a good biomarker, as they remain high in peripheral blood over time and are more sensitive, in comparison to determinations of interferon alpha and neopterins in cerebrospinal fluid, which descend as of one year of life.

To date, mutations have been reported in seven genes that overstimulate the interferon alpha pathway, and the last to be discovered is IFIH1 interferon induced with helicase C domain 1 , with a pattern of dominant autosomal inheritance. Case report: We present the first case reported in the Hispanic literature caused by a de novo mutation in the IFIH1 gene.

The clinical features, studies conducted and review of the clinical, neuroradiological and genetic aspects are described. Conclusions: The inheritance of the mutations reported for Aicardi-Goutieres syndrome was classically considered as being recessive autosomal, but these findings show that dominant autosomal mutations in the IFIH1 gene can cause the disease.

As a previously unreported neuroimaging finding, it presents a lesion consisting in cystic encephalomalacia in the pons. A proposito de un caso.

Asocia un incremento en la expresion de los genes estimulados por interferon en la sangre periferica, hecho conocido como interferon signature.

Hasta la fecha se han descrito mutaciones en siete genes que sobreestimulan la via del interferon alfa, y el ultimo en descubrirse ha sido el IFIH1 interferon induced with helicase C domain 1 , con un patron de herencia autosomico dominante. Caso clinico.

Se presenta el primer caso descrito en la bibliografia hispana debido a mutacion de novo en el gen IFIH1. Se expone el cuadro clinico, los estudios realizados y la revision de los aspectos clinicos, neurorradiologicos y geneticos. La herencia de las mutaciones descritas para el sindrome de Aicardi-Goutieres era clasicamente autosomica recesiva, pero estos hallazgos muestran que mutaciones autosomicas dominantes en el gen IFIH1 pueden causar la enfermedad. Como hallazgo de neuroimagen no descrito previamente, presenta una lesion de encefalomalacia quistica en la protuberancia.

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Full-text links Cite Favorites. Abstract in English , Spanish. Gilani A, et al. Pediatr Dev Pathol. Epub Apr 5. PMID: Bursztejn AC, et al. Br J Dermatol. Epub Oct Crow YJ, et al. Am J Med Genet A. Epub Jan Livingston JH, et al. Epub Sep PMID: Review. Buers I, et al. J Interferon Cytokine Res. Show more similar articles See all similar articles. Publication types Case Reports Actions.

Genes, Dominant Actions. Humans Actions. Mutation Actions. Supplementary concepts Aicardi-Goutieres syndrome Actions. Full-text links [x] Viguera Editores, S. Copy Download.

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