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.

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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.

Cholestasis in children is a serious condition due to various aetiologic factors. If children with jaundice present with acholic stool, dark urine colour, or direct hyperbilirubinaemia, the patient should be evaluated urgently. Early and timely diagnosis and initiation of appropriate treatment are extremely important determinants of morbidity and mortality. In the neonatal period, idiopathic neonatal cholestasis, alpha-1 antitrypsin deficiency, cholestasis from infections, and biliary atresia are the most common causes of cholestasis. Nowadays, with the development of genetic and molecular biological studies, the diagnosis of many diseases that have previously been evaluated as ‘idiopathic‘ can be made. It is the aetiological factor that determines the prognosis. The treatment plan is created in accordance with aetiological causes and in response to symptoms such as pruritus and malabsorption: this can be surgical treatment across a diverse spectrum, from biliary diversion to liver transplantation. In this study, the aetiology, diagnosis, and treatment of cholestasis in babies and infants are reviewed in the light of current literature.

Right colonic and cecal diverticulitis can mimic acute appendicitis. A 14-year-old, 105-kg boy presented at the emergency department with symptoms mimicking acute appendicitis. Surgery revealed a case of perforated solitary cecal diverticulitis. Diverticulosis is a disease known to be common in adulthood, but the incidence is increasing in childhood. Therefore, emergency room residents and pediatric surgeons need to keep this diagnosis in mind in the differential diagnosis of acute appendicitis. Early clarification of the etiology will enable the planning of the best treatment strategy.