Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.

[pyruvate dehydrogenase deficiency]

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 R 302 H mutation in the PDHA 1 gene . Corpus callosum dysgenesis , widespread increased diffusion in the white matter , and bilateral subependymal cysts were the main features . Although confirmation of PDH deficiency depends on specialized biochemical analyses , neonatal MRI plays a role in evaluating the pattern and extent of brain damage , and potentially in early diagnosis and clinical decision making .

Diseases
Validation

Diseases presenting "subependymal cysts" symptom

pyruvate dehydrogenase deficiency

This symptom has already been validated