Juvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1-A Case Report

• Published in: Biomedicines Vol. 11; no. 6; p. 1693
• Main Authors: Sorokina, Lubov S, Raupov, Rinat K, Kostik, Mikhail M
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.06.2023; MDPI
• Subjects: Age; Aicardi-Gouteres syndrome; Amino acid substitution; Arthritis; Basal ganglia; Calcification; Case Report; Case reports; Cerebellum; Cerebral palsy; CNS calcifications; Convulsions & seizures; Corpus callosum; Corticosteroids; Cytomegalovirus; Dermatomyositis; Disease; Edema; Encephalopathy; Erythema; Fever; Genes; Genetic aspects; Genetic counseling; Genomes; Glaucoma; Health aspects; Hypoplasia; infantile cerebral palsy; Infectious diseases; Interferon; interferonopathy; Kinases; Leukodystrophy; Magnetic resonance imaging; Medical screening; Methotrexate; Mutation; Myositis; Nervous system; Neurological complications; Paralysis; Patients; Pediatrics; SAMHD1; Seizures; Seizures (Medicine); Skin; Skin diseases; sleukodystrophy; Spasticity; Steroids; Tofacitinib; Toxoplasmosis; infantile cerebral palsy; sleukodystrophy; CNS calcifications; ICP; interferonopathy; Aicardi-Gouteres syndrome; SAMHD1

Aicardi-Gouteres syndrome (AGS) is a monogenic interferonopathy characterized by early onset, dysregulation of skin (chilblain lesions), brain, and immune systems (fever, hepatomegaly, glaucoma, arthritis, myositis, and autoimmune activity). The disease looks like TORCH (Toxoplasmosis, Others, Rubel...