Question

question 36 (mandatory) (2 points) a 1 - year - old boy presents with a delay in motor development. progressive muscle weakness and blindness follow and the patient dies within a year. the brain at autopsy shows swollen neurons microscopic exam reveals prominent lysosomes with whorled configurations filled with glucocerebrosides. which of the following is the most likely diagnosis? phenylketonuria neimann - picks disease tay sachs disease mcardles disease

Explanation:

Phenylketonuria is a disorder of phenylalanine metabolism. Neimann - Picks disease has accumulation of sphingomyelin. Tay - Sachs disease is characterized by hexosaminidase A deficiency and accumulation of GM2 ganglioside. McArdle's disease is a muscle - related glycogen storage disorder. The presence of swollen neurons with prominent lysosomes filled with glucocerebrosides is characteristic of Gaucher's disease which is not in the options, but the description is most in line with Neimann - Picks disease where there are abnormal lipid accumulations in cells.

Answer:

Neimann - Picks disease