Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2

Glycogenosis type 2 is an autosomal recessive glycogen storage disorder cau sed by deficiency of lysosomal acid a-glucosidase. Different phenotypes are recognized. The authors describe two children affected by the late infanti le form; both presented terminal hyperthermia not caused by infections. Aut opsy performed in one case showed diffuse glycogen storage in the CNS neuro ns. In light of current interest in enzyme replacement therapy, this findin g casts some doubt on how effective enzyme replacement therapy will be unle ss it can be targeted directly into the CNS.