文本框: LIVER GLYCOGENOSES: ARE THEY A POSSIBLE CAUSE OF POLYNEUROPATHY? Kotb M.A., Kotb A. and Abdallah H.A. New Children Hospital Cairo University, Cairo, Egypt Introduction: Glycogen storage diseases (GSD) are inherited disorders in which the concentration and/or molecular structure of glycogen is abnormal in any tissue of the body. Objective: To study the pattern of muscle and nerve involvement in children suffering from liver glycogenoses by EMG and NCV. Material and Methods: 22 children suffering from liver glycogenoses having age range of 1.5 and 14 years with a mean of 6.86+ 4.38 years, and 20 age and sex matched clinically free children were included as a control group. All the children underwent clinical examination including cardiac and musculoskeletal examination, assessment of total and direct bilirubin levels, AST &ALT, alkaline phosphatase, prothrombin time and concentration. Abdominal sonography and percutaneous liver biopsy were performed. Creatine phosphokinase (CPK) was estimated in all the studied children. Assessment of GSD type was performed in only 8 children (36.4%) by detection of specific enzyme defect in leukocytes. Electromyography (EMG) and nerve conduction studies (NCV) were performed using concentric needle examination. Results: Of the 22 patients examined, 11 (50%) children were found to have abnormal EMG and/or NCV studies. Six (27.27%) children were found to have axonopathy, another 3 (13.63%) were found to have a demyelinating polyneuropathy and another 2 (9.1%) were found to have a mixed axonal and demyelinating neuropathy. Two of the children having axonopathy had GSD type VI, another had GSD type IV and the other 3 had GSD of undiagnosed type. Three of the children having a demyelinating polyneuropathy had GSD type III, another had GSD type IV and the last had GSD of undiagnosed type. None of the enrolled children was found to have a cardiomyopathy or a myopathy upon EMG. Conclusion: This is the earliest report of neuropathy associated with GSD types III, IV and VI. Improved understanding of the pathophysiologic derangements resulting from individual enzyme defects would further define this reported neuropathy. 0952