Juvenile Pompe Disease with CNS Involvement: A Case Report.

Korean J Leg Med. 2003 May;27(1):92-95. Korean.

Department of Forensic Medicine, National Institute of Scientific Investigation, Korea.

Pompe disease (Glycogenosis type 2) is an autosomal recessive glycogen storage disorder by deficiency of lysosomal acid alpha-glucosidase. The disorder encompasses a range of phenotypes, each including myopathy but differing in age of onset, organ involvement, and clinical severity. Glycogen storage is most prominent in skeletal and cardiac muscle, and liver. The authors described a 8-year-old girl who presented hypotonia, mental retardation and hepatomegaly, and died accidentally of burn. Light and electron microscopic examination on autopsied tissue revealed diffuse both cytoplasmic and lysosomal glycogen storage in hepatocytes, neurons of cerebral cortex and hippocampus, and renal tubular epithelium. A few cases of Pompe disease with CNS involvement has been reported in English literature previously. Nevertheless, to our knowledge, it is the first time in Korea.

Key Word : Pompe disease-CNS-glycogen