GP49 Munchausen by proxy syndrome in three siblings diagnosed as isovaleric acidemia

Abstract

Introduction Isovaleric acidemia (IVA) is a rare autosomal recessively inherited metabolic disorder caused by deficiency of isovaleryl-Co A dehydrogenase. Clinical signs are refusal of feeding, vomiting, lethargy, convulsions, metabolic acidosis, hyperglycemia/hypoglicemia, and foot odor in neonatal period. Munchausen by proxy syndrome is a complex form of childhood abuse that can be sometimes severe and fatal. A caregiver intentionally creates some symptoms mimicking an organic disease or changing the laboratory samples that causes damages in child health. Case The patient who was diagnosed as IVA at 2-months of age had no other metabolic attacks until the age of seven. After that, he was hospitalized in every 3–4 months with severe dehydration and renal failure and hemodiafiltration was performed. The levels of creatinin and potassium are incompatible with life and there were any sustaining clinical or electrocardiographical signs. His 2 year-old sister and 6 month-old brother who had also IVA were also hospitalized with recurrent encephalopathic status. As the family had a history of a child death without a known cause and the siblings had frequent hospitalizations in different medical centers and cities without a triggering factor, a more detailed anamnesis was obtained from the mother. Suprisingly this new history put forward the usage of antipsychotic/anatidepressive drugs in all siblings which lead to recurrent encephalopathies. However, renal insufficiency could not be explained until the mother’s mixing of her urine to the blood samples of the child was observed in the clinic. Conclusion Munchausen by proxy syndrome is a severe form of child abuse that can even result in death of the child if the diagnosis is not established in time. Although our patients had a known inherited metabolic disease with a defined mutation, the mother did not tell anything about this or sometimes told lies on the admissions to different medical centers. These confusing anamnesis easily lead the other physicians to the diagnosis of more common diseases like acute renal insufficiency, encephalities, and diabetes. Then, lots of unnecessary procedures was performed until the munchausen by proxy syndrome was thought. We present this case to emphasize thinking Munchausen by proxy syndrome with recurrent unexplained signs and symptoms even in the presence of a known disease in order to prevent undesirable results.