Presentation
A 5-year-old female baby with global developmental delay attained milestones for 9 months age. No history of seizures. There was dysmorphic features flat nasal bridge, antimongoloid slant, everted upper lip.
Patient Data
Thinned out corpus callosum with parallel lateral ventricles suggesting hypogenesis of the corpus callosum.
Symmetrical enlargement of both lateral ventricles and the third ventricle with more prominence of occipital horns of bilateral lateral ventricles. Normal 4th ventricle present with flow void of the aqueduct is maintained.
Bilateral asymmetrical hyperintense signal on T2/FLAIR images involving both lentiform nuclei suggesting encephalopathy changes.
Significant white matter atrophy with the prominence of all sulci in bilateral cerebral hemispheres.
Cavum septum interpositum present.
Case Discussion
Pyruvate dehydrogenase deficiency is a rare leukoencephalopathy disorder with the presentation of delayed development and lactic acidosis in infants. The clinical features are more severe in female child and imaging is done to look for key imaging features like -subependymal cysts, agenesis/ hypogenesis of the corpus callosum, White matter paucity, leukoencephalopathy, and ventriculomegaly. Few nonspecific findings like hyporotation of the hippocampus or cortical malformations can be seen. Serial Imaging is done after putting the patients on a ketogenic diet to see the reversible deep grey matter lesions.
Gene sequencing should be done for pyruvate dehydrogenase deficiency for the baby, parents, and screening of subsequent pregnancy should be done.
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