Aicardi‐Goutières syndrome and dyschromatosis symmetrica hereditaria due to compound heterozygous mutation of ADAR1, presentation of two cases

Abstract

We present the cases of two sisters, 5 and 2 years of age, with no family history of interest, from non-consanguineous parents, term delivery, normal birth weight, and uneventful gestation.The 5-year-old girl had numerous hyperpigmented macules of small size on the face and dorsum of the hands (Figure 1), which had appeared progressively since the age of 2 years. She had not presented episodes of chilblains. Motor, language, and psychosocial aspects were normal. At birth, a hip dysplasia was detected and successfully treated with Plavik harness.Neuroimaging studies and echocardiogram were normal.