ABSTRACT
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.
ABSTRACT
Late-onset congenital diaphragmatic hernias that give symptoms beyond the neonatal period are rare and are difficult to diagnose. The diagnosis is usually made in case of complications such as intestinal obstruction, strangulation, and perforation, which further necessitate immediate surgical repair. The case of a 5-year-old child presenting with acute respiratory distress with gastric strangulation and perforation secondary to Bochdalek hernia is reported here. Although presentation in the latter ages is less common, congenital diaphragmatic hernia should be included in the differential diagnosis of respiratory distress in children. Symptoms and diagnostic tools should truly be interpreted. Gastrointestinal complications must urgently be recognized, and early surgical intervention must be performed.
