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Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2

From the Children’s Hospital "Burlo Garofolo" (Drs. Martini, Ciana, Benettoni, Katouzian, Severini, and Bembi) and Istituto di Anatomia Patologica (Dr. Bussani), University of Trieste, Italy.

Address correspondence and reprint requests to Dr. Bruno Bembi, Children’s Hospital "Burlo Garofolo," via dell’Istria 65/1, 34137 Trieste, Italy; e-mail: bembi{at}burlo.trieste.it

Glycogenosis type 2 is an autosomal recessive glycogen storage disorder caused by deficiency of lysosomal acid -glucosidase. Different phenotypes are recognized. The authors describe two children affected by the late infantile form; both presented terminal hyperthermia not caused by infections. Autopsy performed in one case showed diffuse glycogen storage in the CNS neurons. In light of current interest in enzyme replacement therapy, this finding casts some doubt on how effective enzyme replacement therapy will be unless it can be targeted directly into the CNS.

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