RT Journal Article
SR Electronic
T1 Neuronal ceroid lipofuscinosis and arthropathy: a family study.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 101
OP 104
DO 10.1136/jmg.18.2.101
VO 18
IS 2
A1 Proops, R
A1 Green, S H
YR 1981
UL http://jmg.bmj.com/content/18/2/101.abstract
AB 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.