КЛИНИЧЕСКИЙ СЛУЧАЙ Х-СЦЕПЛЕННОЙ АДРЕНОЛЕЙКОДИСТРОФИИ

The clinical description of a X-linked adrenoleukodystrophy is presented, which belonging to the group peroxisome disease. The disease is manifested at 7 years 11 months and let to disability and mortality at the age 11 years. The patient was diagnosed on the stage was put on the stage of severe clinical symptoms, and therefore the prescribed treatment was not effective, and the transplantation of hematopoietic stem cells is not shown. The family received recommendations for prenatal diagnosis based on molecular genetic diagnosis.