MRI Findings and Outcome in Molybdenum Cofactor Deficiency

Abstract

Researchers at Great Ormond Street Hospital, London, UK examined the clinical, brain MRI, biochemical, genetic, and EEG features and outcome in 8 children with a diagnosis of molybdenum cofactor deficiency seen over a 10-year period.

Keywords

• epileptic encephalopathy
• neonatal seizures
• extrapyramidal signs