title: Spontaneous rapid resolution of acute basal ganglia changes in an untreated infant with propionic acidemia: a clue to pathogenesis?
abstract: Basal ganglia lesions are a well reported feature of acute decompensation in propionic acidemia; however, their underlying causation still needs to be fully elucidated. We report an 8-month-old infant whose lesions had almost completely resolved radiologically within 3 weeks of initial presentation without specific metabolic management and in light of this, we discuss the current thinking on their pathogenesis.
authors: Department of Metabolic Disease, Great Ormond Street Hospital with UCL Institute of Child Health, London, UK. BroomA@gosh.nhs.uk
authors: A
authors: A
authors: Broomfield
authors: R
authors: R
authors: Gunny
authors: P
authors: P
authors: Prabhakar
authors: S
authors: S
authors: Grunewald
mesh_terms: D001479:Basal Ganglia / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D056693:Propionic Acidemia / Q000473:pathology*; D012075:Remission, Spontaneous