Pyruvate Dehydrogenase Deficiency with Cerebral Vasculitis |Biomedgrid

7-year-old boy presented with acute weakness following a gastrointestinal illness. Exam was notable for flaccid quadriparesis, hyporeflexia without encephalopathy. He received IVIG for presumed Guillain Barre syndrome. Initial CSF analysis and MRI Brain/spine were unremarkable except high CSF lactate of 2.9. A week later, he became less responsive, had autonomic fluctuations, lost gag reflex, and got intubated. Repeat MRI Brain showed new bilateral (L>R) cortical, subcortical and brainstem lesions as seen in Figures 1A, 1B & 1C.