ISSN:
1432-1076
Keywords:
Neurogenic arthrogryposis
;
Parenchymal giant cell transformation
;
Pigmentary liver disease
;
Ductopenia
;
Renal tubulopathy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract We report on five patients from three families with neurogenic arthrogryposis, cholestasis and tubular renal dysfunction. Despite a similar clinical picture the liver histology showed a broad pathological spectrum, ranging from pigment storage to parenchymal giant cell transformation and ductopenia. The findings are compared with those of other cases from the literature in search of a correct nosology of the syndrome characterized by arthrogryposis, renal and liver disease. Conclusion We propose to consider the picture of arthrogryposis, renal tubular dysfunction and cholestasis as a single syndrome.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01959793
