SLC19A3 Early-Infantile, Lethal Encephalopathy

Abstract

Investigators from VU Medical Centre, Amsterdam, The Netherlands, identified seven patients with severe encephalopathy who shared a previously undescribed MRI pattern with cystic degeneration of the white matter and progressive cerebral, cerebellar and brainstem atrophy.

Keywords

• leigh’s syndrome
• brain tissue
• cystic degeneration