Liver glycogenoses: are they a possible cause of polyneuropathy? A cross-sectional study.

We encountered two children suffering from liver glycogenoses (GSD) over a period of 5 years (1992-1997) who presented with a demyelinating peripheral neuropathy diagnosed by electromyography (EMG) and nerve conduction studies (NCV). The aim of the study was to evaluate the involvement of muscle and motor nerve in children suffering from liver glycogenoses. In a cross-sectional study, 22 children suffering from liver GSD (with no current neurological symptoms) and 20 age- and sex- matched clinically free children (control group) underwent creatine phospho-kinase (CPK), EMG, and NCV studies. Abnormal EMG and/or NCV studies were found in 11 children. Six (27.27 per cent) were found to have axonopathy, three (13.63 per cent) demyelinating polyneuropathy, and two (9.1 per cent) had mixed axonal and demyelinating neuropathy. Two children with axonopathy had GSD type VI, another had GSD type IV, and three had GSD of undiagnosed type. Three of those having a demyelinating polyneuropathy had GSD type III, another had GSD type IV, and the last had GSD of undiagnosed type. None were found to have a cardiomyopathy or a myopathy on EMG. This is the first report of neuropathy associated with GSD types III, IV, and VI in children. It might be discovered by EMG and/or NCV studies in a clinically, neurologically normal child suffering from GSD, or present as an acute polyneuropathy.