Pyruvate Dehydrogenase Deficiency with Cerebral Vasculitis

Abstract

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. Serial MRI brain showed fast developing multiple lesions involving the white and gray brain matter with areas of restricted diffusion. Repeat CSF analysis including encephalopathy/ multiple sclerosis panel were unremarkable. Biopsy of left frontal lesion showed vasculitis with lymphocytic infiltration and areas of small hemorrhage with no necrosis as shown in Figures 2A & 2B. He had no response to 7 days of IV steroids or IVIG. Cyclophosphamide therapy was started for presumed CNS vasculitis and mitochondrial cocktail for high serum/CSF lactate though rest of the mitochondrial labs returned negative. Infectious work up for Aspergillus, hepatitis B&C, Bartonellosis, Lyme, Tuberculosis and HIV were negative.