Neuronal ceroid lipofuscinosis and arthropathy: a family study.
AUTOR(ES)
Proops, R
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1048680Documentos Relacionados
- Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6.
- Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder
- So-called neuronal ceroid lipofuscinosis: Neurophysiological studies in 60 children
- Pyrophosphate arthropathy: a clinical and radiological study of 105 cases.
- Pyrophosphate arthropathy: a study of metabolic associations and laboratory data.