Clinical neuroimaging features and outcome in molybdenum cofactor deficiency
K Vijayakumar, R Gunny, S Grunewald, L Carr… - Pediatric …, 2011 - Elsevier
Molybdenum cofactor deficiency predominantly affects the central nervous system. There
are limited data on long-term outcome or brain magnetic resonance imaging (MRI) features.
We examined the clinical, brain MRI, biochemical, genetic, and electroencephalographic
features and outcome in 8 children with a diagnosis of molybdenum cofactor deficiency
observed in our institution over 10 years. Two modes of presentation were identified: early
(classical) onset with predominantly epileptic encephalopathy in 6 neonates, and late …
are limited data on long-term outcome or brain magnetic resonance imaging (MRI) features.
We examined the clinical, brain MRI, biochemical, genetic, and electroencephalographic
features and outcome in 8 children with a diagnosis of molybdenum cofactor deficiency
observed in our institution over 10 years. Two modes of presentation were identified: early
(classical) onset with predominantly epileptic encephalopathy in 6 neonates, and late …