Case 1 History ---- The decedent was a 3 year old boy with a diagnosis of mitochondrial encephalomyopathy based on documented complex IV deficiency on muscle biopsy and known SURF1 mutations (c.555_556delGA / c.575_575insCTGC). He initially was evaluated at 18 months of age because of hypotonia and weakness. His neurologic exam at that time was notable for absent deep tendon reflexes. The patient had persistently elevated plasma and CSF lactate (2.3 – 4.4 range), with lactate/pyruvate ratios as high as 23. MRI of the brain at age 2 years and 4 months showed FLAIR signal abnormalities in the peripheral putamen and cerebellum with restricted diffusion of the cerebellar dentate nuclei bilaterally. Family history was notable for a maternal grandmother with epilepsy and diabetes, and a maternal first cousin with hearing loss. The patient was developmentally delayed with a pattern of regression. At the age of 3 years, he was able to communicate using approximately 20 signs, but was no longer able to use spoken language. He was no longer ambulatory. After a hospitalization for dehydration and respiratory distress, a DNR/DNI order was implemented. The patient died soon after.
