An 8-month-old female infant has died due to cardiorespiratory failure. Physical findings that were apparent prior to her death included feeding difficulties, cardiomegaly, macroglossia, mild hepatomegaly, hypotonia, and a rapidly progressing muscle weakness. Autopsy findings demonstrated marked intralysosomal accumulation of glycogen of normal structure in cardiac and skeletal muscle. These physical and clinical findings are consistent with which of the following glycogen storage diseases?

Question

Quizplus · Accepted Answer

The symptoms and autopsy findings are consistent with Pompe disease, which is characterized by cardiomegaly, hypotonia, muscle weakness, and glycogen accumulation in lysosomes due to acid alpha-glucosidase deficiency. Pompe disease, glycogen storage disease type II (GSDII), is the result of defective acid α-glucosidase (acid maltase) activity. Deficiency in acid maltase leads to intralysosomal accumulation of glycogen of normal structure in numerous tissues. Accumulation is most marked in cardiac, hepatic, and skeletal muscle tissues of infants with the generalized form of the disorder. The accumulation in skeletal muscle leads to hypotonia, and in the liver to hepatomegaly. The infantile form results in death due to cardiorespiratory failure usually before 2 years of age.

An 8-Month-Old Female Infant Has Died Due to Cardiorespiratory Failure