Conclusion: We propose to consider the picture of arthrogryposis, renal tubular dysfunction and cholestasis as a single syndrome. 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.
- Neurogenic arthrogryposis
- Parenchymal giant cell transformation
- Pigmentary liver disease
- Renal tubulopathy
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health