Клинический случай пропионовой ацидемии
Âkutskij medicinskij žurnal
The article presents the clinical case of management of a child with a genetic metabolic disease until setting a correct diagnosis propionic acidemia. The full - term child aged 11 days had developed metabolic crisis, which was taken as an expression of neonatal pathology, such as neonatal jaundice, perinatal CNS lesion. On a background of detoxification the patient had the clinical positive dynamics, but a bright period lasted only two weeks. Due to a main disease the child had secondary
... had secondary immunodeficiency, which resulted in recurrent pneumonias. The patient was examined in three ways: changes of peripheral blood - leukopenia, thrombocytopenia, anemia; neurological symptoms - soporous condition, lethargy, refusal of meals, oppression of all reflexes, muscular hypotension; in view of anamnesis, impossibility of a comparison all the clinical symptoms to one diagnosis tap genetic research. The lack of the methodology of tandem mass spectrometry extended the time of correct diagnosis and timely treatment.