Davide Tonduti1, Giana Izzo2, Stefano D'Arrigo3, Daria Riva3, Isabella Moroni3, Giovanna Zorzi3, Vanessa Cavallera4, Anna Pichiecchio5, Carla Uggetti6, Pierangelo Veggiotti7, Simona Orcesi4, Luisa Chiapparini8, Cecilia Parazzini2. 1. Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy. Electronic address: davide.tonduti@asst-fbf-sacco.it. 2. Department of Pediatric Radiology and Neuroradiology, V. Buzzi Children's Hospital, Milan, Italy. 3. Child Neurology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 4. Child and Adolescent Neurology Department, IRCCS Mondino Foundation, Pavia, Italy. 5. Neuroradiology Unit, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy. 6. Neuroradiology Unit, Department of Radiology, ASST Santi Paolo e Carlo, San Carlo Borromeo Hospital, Milan, Italy. 7. Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy; Biomedical and Clinical Science Department, University of Milan, Milan, Italy. 8. Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Abstract
BACKGROUND: Aicardi-Goutières syndrome (AGS) is a rare genetic leukoencephalopathy related to inappropriate activation of type I interferon. Neuroradiological findings are typically characterized by white matter abnormalities, cerebral atrophy and cerebral calcification. The disease usually manifests itself during the first year of life in the form of an initial "encephalitic-like" phase followed by a chronic phase of stabilization of the neurological signs. Recently new therapeutic strategies have been proposed aimed at blocking the abnormal activation of the interferon cascade. MATERIALS AND METHODS: We reviewed clinical and MRI findings in three young RNASEH2B-mutated patients studied with serial CT and MRI studies. RESULTS: All three patients presented clinical and MRI features consistent with AGS but, very unexpectedly, an improving neuroradiological course. In patient 1, the MRI improvement was noted some months after treatment with high-dose steroid and IVIg treatment; in patients 2 and 3 it occurred spontaneously. Patient 2 did not show cerebral calcification on CT images. CONCLUSIONS: Our series highlights the possibility of spontaneous neuroradiological improvement in AGS2 patients, as well as the possibility of absence of cerebral calcification in AGS. The study underlines the need for extreme caution when using MRI as an outcome measure in therapeutic trials specific for this disease. MRI follow-up studies in larger series are necessary to describe the natural course of AGS.
BACKGROUND: Aicardi-Goutières syndrome (AGS) is a rare genetic leukoencephalopathy related to inappropriate activation of type I interferon. Neuroradiological findings are typically characterized by white matter abnormalities, cerebral atrophy and cerebral calcification. The disease usually manifests itself during the first year of life in the form of an initial "encephalitic-like" phase followed by a chronic phase of stabilization of the neurological signs. Recently new therapeutic strategies have been proposed aimed at blocking the abnormal activation of the interferon cascade. MATERIALS AND METHODS: We reviewed clinical and MRI findings in three young RNASEH2B-mutated patients studied with serial CT and MRI studies. RESULTS: All three patients presented clinical and MRI features consistent with AGS but, very unexpectedly, an improving neuroradiological course. In patient 1, the MRI improvement was noted some months after treatment with high-dose steroid and IVIg treatment; in patients 2 and 3 it occurred spontaneously. Patient 2 did not show cerebral calcification on CT images. CONCLUSIONS: Our series highlights the possibility of spontaneous neuroradiological improvement in AGS2patients, as well as the possibility of absence of cerebral calcification in AGS. The study underlines the need for extreme caution when using MRI as an outcome measure in therapeutic trials specific for this disease. MRI follow-up studies in larger series are necessary to describe the natural course of AGS.
Authors: Kader Cetin Gedik; Lovro Lamot; Micol Romano; Erkan Demirkaya; David Piskin; Sofia Torreggiani; Laura A Adang; Thais Armangue; Kathe Barchus; Devon R Cordova; Yanick J Crow; Russell C Dale; Karen L Durrant; Despina Eleftheriou; Elisa M Fazzi; Marco Gattorno; Francesco Gavazzi; Eric P Hanson; Min Ae Lee-Kirsch; Gina A Montealegre Sanchez; Bénédicte Neven; Simona Orcesi; Seza Ozen; M Cecilia Poli; Elliot Schumacher; Davide Tonduti; Katsiaryna Uss; Daniel Aletaha; Brian M Feldman; Adeline Vanderver; Paul A Brogan; Raphaela Goldbach-Mansky Journal: Ann Rheum Dis Date: 2022-01-27 Impact factor: 27.973
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