[LS6] Luncheon Seminar 6: Pompe Disease

[LS6-2B-1 ] Brain involvement in classic infantile Pompe disease

^○Yin-Hsiu CHIEN^{1, 2} (1.Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, 2.Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan)

Classic infantile Pompe disease (IOPD), a progressive lysosomal glycogen storage disorder, can be treated with enzyme replacement therapy (ERT) to improve the survival and motor function. However, glycogen storage occurs in the neurons. In patients with IOPD, current studies showed white matter abnormalities and normal to mild delay in cognitive development. Here we report the series of brain morphology and cognitive development in our classic IOPD patients who have been treated and followed since birth. All of them revealed extensive white matter abnormalities, but none of them showed deterioration in cognitive development by the last evaluation. However, one patient presented with seizure, brain calcification, and tongue fasciculation in addition to the extensive white matter abnormalities. Our findings warrant the urgent need for a new treatment targeting both muscle and brain.