Article
Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.
Pediatric radiology - 1 May 2008
Soares-Fernandes João P, Teixeira-Gomes Roseli, Cruz Romeu, Ribeiro Manuel, Magalhães Zita, Rocha Jaime F, Leijser Lara M
Abstract excerpt
Pyruvate dehydrogenase (PDH) deficiency is one of the most common causes of congenital lactic acidosis. Correlations between the genetic defect and neuroimaging findings are lacking. We present conventional and diffusion-weighted MRI findings in a 7-day-old male neonate with PDH deficiency due to a mosaicism for the R302H mutation in the PDHA1 gene. Corpus callosum dysgenesis, widespread increased diffusion in...
Topics
- Brain
- Diagnosis, Differential
- Diffusion Magnetic Resonance Imaging
- Humans
- Infant, Newborn
- Lactic Acid
- Magnetic Resonance Imaging
- Male
- Mosaicism
- Mutation
- Nervous System Malformations