Clinical History
Hepatomegaly. Slow psychomotor development
Imaging Findings
The patient had slow psychomotor development. There was predominantly liver involvement with glycogen storage disease, proven by biopsy. A CT scan of the brain was performed.
Discussion
Glycogen storage diseases or glycogenoses, represent a group of hereditary disorders caused by lack of a specific enzyme involved in glycogen synthesis and breakdown. There are several specific types of the disease involving the liver, skeletal muscle, and myocardium, as well other types involving most tissues. The calcifacition pattern in the current patient, located at the corticomedullary junctions in the parietooccipital regions, was in favor of mineralizing microangiopathy. Mineralizing microangiopathy is known to be associated with vasculopathy and dystrophic calcification at the corticomedullary junction, and at the basal ganglia, and usually develops after combined chemotherapy and radiation treatment of the central nervous system tumors in childhood. The location of the calcifications in the current patient with glycogen storage disease suggested that the condition likely represented a dystrophic calcification pattern secondary to a possible microangiopathy associated with this entity.
Differential Diagnosis List
Glycogen storage diseases with brain calcifications
Final Diagnosis
Glycogen storage diseases with brain calcifications
