Turkish J Pediatr
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Propionic acidemia is an inherited disorder of organic acid metabolism characterized by a spectrum of clinical and biochemical findings. The usual presentation is life-threatening ketoacidosis and hyperammonemia. In this report we present a neonate with propionic acidemia presenting with prominent neurologic problems without ketoacidosis. ⋯ However, she developed Candida albicans peritonitis, and sepsis and died of cardiorespiratory failure. Infants who have an early onset propionic acidemia have a high mortality and morbidity rate. In conclusion, propionic acidemia should be in the differential diagnosis of patients with neurologic symptoms and hyperammonemia with or without acidosis.
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Munchausen syndrome by proxy (MSBP) is a serious form of child abuse, which is characterized by a child with symptoms and signs of an illness that have been fabricated by the mother. Here, we present a case of MSBP, who at four months of age was brought to our hospital by her mother because of rectal bleeding. The patient underwent many invasive procedures until the diagnosis of MSBP was finally considered. ⋯ The blood group and DNA analysis of the blood in the diaper confirmed the diagnosis. The case was reported to the social services and the patient was placed in the custody of her father's sister. The mother is still undergoing treatment in our psychiatry department.