Lafora disease: Liver histopathology in presymptomatic children

Abstract

Lafora disease is an inborn error of carbohydrate metabolism with storage of a polyglucosan in various tissues including brain and liver. Recently, distinctive histopathological changes in liver have been emphasized, and the diagnosis has been confirmed by the relatively simple procedure of percutaneous liver biopsy. We utilized this technique to study three asymptomatic preadolescent children from one family in which older siblings had symptomatic Lafora disease confirmed by brain or liver biopsy. Liver biopsies from the asymptomatic children showed altered hepatocytes identical to those seen in symptomatic subjects, although the cells were considerably less numerous. All three children subsequently became symptomatic. Distinctive liver changes can antedate the onset of symptoms in Lafora disease.