Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
Am J Med Genet A
; 170A(5): 1317-24, 2016 May.
Article
in En
| MEDLINE
| ID: mdl-26833990
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Paraplegia
/
Brain Diseases
/
Autoimmune Diseases of the Nervous System
/
Interferon-Induced Helicase, IFIH1
/
Nervous System Malformations
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Humans
/
Male
/
Newborn
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2016
Document type:
Article
Affiliation country:
France