Síndrome de Aicardi-Goutières por mutación en el gen IFIH1 con afectación pontina. A propósito de un caso
| Autor: | J. Eirís-Puñal, Santana-Artiles A, Francisco Barros-Angueira, Sebastián-García I, A. Florido-Rodríguez, L.T. de Laguna, Santana-Rodríguez A, J.C. Cabrera-López |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Mutation
Microcephaly Pathology medicine.medical_specialty Psychomotor retardation business.industry Encephalopathy Alpha interferon General Medicine medicine.disease_cause medicine.disease Interferon Medicine Aicardi–Goutières syndrome Neurology (clinical) medicine.symptom business Pleocytosis medicine.drug |
| Zdroj: | Revista de Neurología. 63:309 |
| ISSN: | 0210-0010 |
| DOI: | 10.33588/rn.6307.2016205 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|