Munchausen syndrome by proxy or metabolic deficit? The diagnosis requires a multidisciplinary approach

Genetic disorders associated to mitochondrial fatty acid β-oxidation deficiency are rare autosomal recessive disorders that often appear early in childhood. Affected individuals display a wide range of symptoms that may include hypoglycemia, intermittent hemoglobinuria, muscle weakness, liver, neurological disorders and heart abnormalities. These disorders can mimic Munchausen by Proxy (MBP), a form of caregiver-induced disease. Ruling out genetic or metabolic causes is crucial in such cases to avoid misdiagnosis and potential harm to both the child and the caregiver (often the mother). In a forensic context, investigating metabolic and genetic abnormalities can aid in identifying cases of child abuse or poisoning. A case regarding a 3-year-old girl admitted to the hospital with suspected MBP due to benzodiazepines (midazolam) administration is described. The importance of a thorough evaluation is highlighted, considering that genetic testing revealed a familial mitochondrial disorder, excluding MBP as the cause of the child clinical symptoms. This case underscores the need for comprehensive assessments to ensure accurate diagnoses and appropriate interventions, especially when young children are involved.