Neuronal ceroid lipofuscinosis and arthropathy: a family study.
- 1 April 1981
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 18 (2), 101-104
- https://doi.org/10.1136/jmg.18.2.101
Abstract
A family is described in which 3 children have neuronal ceroid lipofuscinosis and 2 of them also have an arthropathy. Clinically the children have the late infantile form but pathological evidence shows the recognized overlap with the juvenile form. A 4th child with joint involvement but with normal skin biopsies is described. This family apparently has a specific form of neuronal ceroid lipofuscinosis with arthropathy, accumulation of metabolites in this storage disease may be age dependent.This publication has 10 references indexed in Scilit:
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