Article
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2012
Scalais Emmanuel, Francois Baudouin, Schlesser Patrick, Stevens Rene, Nuttin Christian, Martin Jean-Jacques, Van Coster Rudy, Seneca Sara, Roels Frank, Van Goethem Gert, Löfgren Ann, De Meirleir Linda
Abstract excerpt
AIMS: Description of the clinical course in a child compound heterozygous for POLG1 mutations, neuropathology findings and results of dietary treatment based on fasting avoidance and long chain triglycerides (LCT) restriction. RESULTS: At 3(1/2) months of age the patient presented with severe hyp...
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