Case 3 History ---- The decedent was a 13 month old male infant with progressive neurodegenerative illness thought to be due to a mitochondrial disorder. His sister died (16 months of age) with a similar disorder identified as a mitochondrial defect with increased levels of 3-methylene glucuronic acid. His mother has the same defect but is phenotypically normal. The patient was noted to have delays in his developmental milestones, lower extremity weakness, head bobbing, choking on liquids, and intermittent staring spells. MRI at 3 months of age was normal but at 6 months showed degenerative changes. Urine 3-methylene glucuronic acid was elevated. He was admitted at 10 months of age for an umbilical cord blood stem cell transplant which was complicated by veno-occlusive disease of the liver, respiratory failure, and renal failure treated with peritoneal dialysis. Baseline MRI was noted to have abnormal T2 hyperintensities involving bilateral basal ganglia, posterior hypothalamus, and cerebral peduncles consistent with old infarcts. He was readmitted to the Intensive Care Unit on several occasions with probable infections resulting in septic shock. An MRI on November 21 showed increased cerebral atrophy and increase in basal ganglia infarcts. His mental status remained poor, with minimal alertness. Following another episode of septic shock he expired.
