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Clinical and pathologic features of Aicardi–Goutières syndrome due to an IFIH1 mutation: A pediatric case report
Author(s) -
Marguet Florent,
Laquerrière Annie,
Goldenberg Alice,
Guerrot AnneMarie,
Quenez Olivier,
Flahaut Philippe,
Vanhulle Catherine,
DumantForest Clémentine,
Charbonnier Françoise,
Vezain Myriam,
Bekri Soumeya,
Tournier Isabelle,
Frébourg Thierry,
Nicolas Gaël
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37577
Subject(s) - etiology , medicine , asymptomatic , pathological , pathology , pediatrics , encephalopathy
We describe the case of a young patient with calcifying encephalopathy, born to asymptomatic parents. An extensive hypothesis‐driven etiological assessment was performed and failed to detect the precise etiology during many years. We therefore decided to perform whole exome sequencing of the child–unaffected parents trio. A de novo pathogenic variant in the IFIH1 gene which has recently been shown to cause autosomal dominant forms of Aicardi–Goutières syndrome was identified. This child presented with a severe form with neonatal thrombocytopenia and hepatomegaly, the latter having been detected during late gestation. Although first milestones were uneventful, he progressively lost motor skills from the age of 12 months and developed severe spastic paraplegia. Brain imaging revealed white matter abnormalities and extensive calcifications. He also presented atypical skin lesions, different from chilblains. His medical history was marked by two episodes of acute pancreatitis. We provide herein the results of pathological examination including detailed description of the neuropathological hallmarks. To our knowledge, this the first detailed clinico‐pathological description of a patient with an IFIH1 pathogenic variant. © 2016 Wiley Periodicals, Inc.

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