PMID: 15357557Sep 11, 2004Paper

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

Journal of Tropical Pediatrics
Magd A KotbAhmed Kotb

Abstract

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 b...Continue Reading

Citations

Nov 18, 2015·Muscle & Nerve·Bastien HerlinTanya Stojkovic
Jul 1, 2010·Journal of Biomedicine & Biotechnology·Anibh M DasSabine Illsinger
Oct 16, 2012·Molecular Genetics and Metabolism·Jeffrey J HorvathPriya S Kishnani
Jul 16, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Priya S KishnaniUNKNOWN ACMG
Jan 15, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lisa D Hobson-WebbPriya S Kishnani
Dec 29, 2020·Journal of Inherited Metabolic Disease·Édouard BerlingAlan O'Brien
Mar 16, 2021·Frontiers in Pediatrics·Emanuele MondaGiuseppe Limongelli
Aug 28, 2021·Genes·Sarah Catharina GrünertUte Spiekerkoetter

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