Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy

• Published in: Journal of child neurology Vol. 36; no. 10; p. 841
• Main Authors: Lim, Jaehyung, Shayota, Brian J, Lay, Erica, Elsea, Sarah H, Bekheirnia, Mir Reza, Tessier, Mary Elizabeth M, Kralik, Stephen F, Rice, Gregory M, Soler-Alfonso, Claudia, Scaglia, Fernando
• Format: Journal Article
• Language: English
• Published: United States 01.09.2021
• Subjects: Adolescent; Brain - diagnostic imaging; Brain - physiopathology; Brain Diseases, Metabolic, Inborn - diagnostic imaging; Brain Diseases, Metabolic, Inborn - physiopathology; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Infant; Magnetic Resonance Imaging - methods; Male; Purpura - diagnostic imaging; Purpura - physiopathology; Stroke - diagnostic imaging; Stroke - physiopathology; Time; metabolic strokes; ETHE1; ethylmalonic encephalopathy; mitochondrial disorder; strokelike episodes
• ISSN: 1708-8283
• DOI: 10.1177/08830738211006507

Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the gene. The phenotype of this disease has been attributed to deficiency in the mitochondrial sulfur dioxygenase leading to many downstream effects. Ethylmalonic encephalopath...