Mitochondrial Diabetes Mellitus With Mitochondrial DNA 3316G>A Mutation: A Unique Autopsy Case Presenting With Sepsis-Associated Cholestasis

TL;DR

A rare case of mitochondrial diabetes with a specific DNA mutation led to sepsis-related liver issues, offering new insights into the condition's causes.

Contribution

This case provides new clues about the etiology of mitochondrial diabetes mellitus through unique liver findings linked to sepsis-associated cholestasis.

Findings

The patient exhibited sepsis-associated cholestasis with bile thrombi in the liver lobules.

No severe shock liver or cholangiectasis was observed in the autopsy.

Elevated endotoxins and inflammatory cytokines were linked to the liver condition.

Abstract

A 70-year-old female, diagnosed with mitochondrial diabetes mellitus (MDM) showing previously a point mutation at mitochondrial DNA 3316G>A, noticed urinary tract infection and diabetic gangrene of the foot with Gram-negative Bacteroides fragilis bacteremia, followed by aggressive jaundice with high serum level of direct bilirubin. She died two months after the symptom onset. At autopsy, multiple foci of bacteremia-induced hemorrhagic infarction were observed in the congestive bilateral lungs, whereas the cholestatic liver revealed no overt gross cholangiectasis. Microscopic findings characteristically showed many bile thrombi in the biliary canaliculi of hepatic lobules without any evidence of severe shock liver. Finally, we diagnosed it exclusively as sepsis-associated cholestasis due to the marked elevation of Gram-negative bacteria-derived endotoxins and inflammatory cytokines. We propose that these unique liver features in our MDM case might be one of the new clues to unveil its enigmatic etiology.

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