A family is described in which three children have neuronal ceroid lipofuscinosis and two of them also have an arthropathy. Clinically the children have the late infantile form but pathological evidence shows the recognised overlap with the juvenile form. A fourth child with joint involvement but with normal skin biopsies is described. It is suggested that this family have a specific form of neuronal ceroid lipofuscinosis with arthropathy and that accumulation of metabolites in this storage disease may be age dependent.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.