Sine causa tetraparesis
| Autor: | Giulio Gualdi, Luisa Lorenzi, Gillian I. Rice, Jessica Galli, Donatella Vairo, Marzia Mortilla, Fabio Facchetti, Marco Cattalini, Francesco Gavazzi, Marika Bianchi, Cristina Cereda, Silvia Giliani, Antonella Meini, Elisa Fazzi, Alessandra Zanola, Micaela De Simone, Raffaele Badolato, Micaela Fredi, Rosalba Monica Ferraro, Nice Carabellese, Laura Andreoli, Marialuisa Valente, Simona Orcesi, Jessica Garau, Angela Tincani |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Pathology medicine.medical_specialty Adolescent Encephalopathy Pilot Projects Tetraparesis Nervous System Malformations Diagnostic Accuracy Study Cerebral palsy Young Adult 03 medical and health sciences Autoimmune Diseases of the Nervous System 0302 clinical medicine medicine Humans Medical history Preschool Child Aicardi-goutières syndrome Interferon signature Interferonopathy Biomarkers Brain Child Preschool Female Interferon Type I Magnetic Resonance Imaging Paresis medicine.diagnostic_test tetraparesis business.industry aicardi–goutières syndrome interferonopathy Magnetic resonance imaging General Medicine medicine.disease 030104 developmental biology interferon signature Etiology Spastic tetraparesis Aicardi–Goutières syndrome business 030217 neurology & neurosurgery Research Article |
| Zdroj: | AGS study group 2018, ' Sine causa tetraparesis : A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis ', Medicine (Philadelphia), vol. 97, no. 52, pp. e13893 . https://doi.org/10.1097/MD.0000000000013893 Medicine |
| ISSN: | 1536-5964 0025-7974 |
| DOI: | 10.1097/md.0000000000013893 |
| Popis: | Tetraparesis is usually due to cerebral palsy (CP), inborn errors of metabolism, neurogenetic disorders and spinal cord lesions. However, literature data reported that about 10% of children with tetraparesis show a negative/non-specific neuroradiological findings without a specific etiological cause. Aicardi Goutières Syndrome (AGS) is a genetic encephalopathy that may cause tetraparesis. Interferon signature is a reliable biomarker for AGS and could be performed in sine-causa tetraparesis. The aim of the study was to examine the type I interferon signature and AGS related-genes in children with sine causa tetraparesis, to look for misdiagnosed AGS. A secondary aim was to determine which aspects of the patient history, clinical picture and brain imaging best characterize tetraparesis due to an interferonopathy. Seven out of 78 patients affected by tetraparesis, characterized by unremarkable pre-peri-postnatal history and normal/non-specific brain magnetic resonance imaging (MRI) were selected and underwent anamnestic data collection, clinical examination, brain imaging review, peripheral blood interferon signature and AGS-related genes analysis. At our evaluation time (mean age of 11.9 years), all the 7 patients showed spastic-dystonic tetraparesis. At clinical onset brain MRI was normal in 4 and with non-specific abnormalities in 3; at follow-up 3 patients presented with new white-matter lesions, associated with brain calcification in 1 case. Interferon signature was elevated in one subject who presented also a mutation of the IFIH1 gene. AGS should be considered in sine-causa tetraparesis. Core features of interferonopathy-related tetraparesis are: onset during first year of life, psychomotor regression with tetraparesis evolution, brain white-matter lesions with late calcifications. A positive interferon signature may be a helpful marker to select patients with spastic tetraparesis who should undergo genetic analysis for AGS. |
| Databáze: | OpenAIRE |
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