Niemann-Pick A disease in children
The authors present the data available in the literature and their clinical observation of a child with Niemann-Pick A disease, describe the diagnostic tactics of this rare inherited disease from a group of lysosomal accumulation diseases, show it difficult to make a differential diagnosis of Niemann-Pick disease with other phenotypically related diseases, provide evidence for the importance of competent genetic counseling, and give an example of effective prenatal diagnosis.