Progressive familial intrahepatic cholestasis (PFIC) is a group of autosomal recessive cholestatic liver diseases which are subgrouped according to the genetic defect, clinical presentation, laboratory findings and liver histology. Progressive liver fibrosis, cirrhosis, and end stage liver disease (ESLD) may eventually develop. PFIC was first described in Amish descendants of Jacob Byler, therefore it was originally called Byler disease. But it can be seen anywhere on the globe. This review summarizes the main features of the subtypes of the disease and discusses the current available diagnosis, conservative and surgical therapeutic options.
Congenital hernias in the lumbar region are very uncommon. Two cases with congenital lumbar hernia associated with the lumbocostovertebral syndrome are presented. The first case of a 14-month-old girl presented with the type of a superior lumbar triangle hernia. The second case was a 2-year-old girl presenting with diffuse lumbar hernia. The anatomy, embryology and treatment of this congenital abnormality are discussed.
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