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Lethal late onset cblB methylmalonic aciduria
1Department of Pediatrics, Meyer Children's Hospital, University of Florence, Italy.
Objective:
To alert the physicians to the possibility of a late-onset inborn error of metabolism in an apparently previously healthy patient with acute clinical presentation.
Design:
Case report.
Setting:
Pediatric unit and general intensive care unit.
Patient:
An apparently previously healthy 12-yr-old female presented acutely with vomiting, fever, bronchopneumonia, and progressive loss of consciousness associated with ketoacidosis, hyperglycemia, and hyperammonemia. She died 3 days later with a diagnosis of insulin-dependent diabetes mellitus.
Interventions:
Intravenous hydration, glucose and insulin, mechanical ventilation.
Measurements And Main Results:
Organic acid analysis on a postmortem sample of aqueous humor revealed high levels of methylmalonic acid. Enzymatic studies on cultured fibroblasts were consistent with the diagnosis of cblB methylmalonic aciduria.
Conclusions:
The diagnosis of cblB methylmalonic aciduria was made in a postmortem patient who died with a misdiagnosis of insulin-dependent diabetes mellitus. Unclear biochemical findings and positive family history should strongly lead to suspicion of an inborn error of metabolism in an apparently previously healthy critically ill patient.