An autopsy case of sudden death suspected by mitochondrial disorder and Pearson’s marrow pancreas syndrome

Abstract

This study presents an autopsy case of unexpected sudden death caused by mitochondrial disorders with a subdural hematoma suspected to have manifested from Pearson’s marrow pancreas syndrome in a four-year-old boy. The cause of death was not determined by his history and autopsy, but was later determined via a postmortem examination. The boy was unable to walk unaided four days before death. On the day of death, he developed a fever of 37.4 °C and coughed to the point of vomiting when given water by his mother, after which he became limp with fatigue. He was brought to the hospital by ambulance, but he died without recovering. The boy had many symptoms but no diagnosis. During the autopsy, a subdural hematoma was identified, and severe fatty changes were observed in the liver. Biochemical analysis and molecular testing revealed no particular metabolic disorders. The activity level of mitochondrial respiratory chain complex I was significantly decreased in the liver, whereas that of complex II was slightly decreased. Although the activity levels of complexes I to IV were all decreased in the cardiac muscle, a particularly marked decrease was observed for complex I. It was therefore concluded that a subdural hematoma without cerebral herniation in this case would not normally be a direct cause of death, but it suspected fatal in this case because of the deteriorated systemic condition resulting from the patient’s mitochondrial disorder suspected by Pearson’s marrow pancreas syndrome. Keywords: Sudden unexpected death in infant (SUDI), Metabolic disorder, mitochondrial disorder, Pearson’s marrow pancreas syndrome, Subdural hematoma