Bile acid synthetic defects: Simplified approach in a nutshell

Bile acid synthetic defects(BASD)constitute a rare group of disorders with manifestations in children as well as adults.Diagnosing the individual BASD mandates a lucid understanding of the bile acid synthetic pathway.However,the synthesis pathway is complex,consisting of numerous enzymes and intermediate products that are volatile in the physician’s memory.Despite paucity of literature,a simplified approach to the BASD is presented in this paper.

Pediatric acute viral hepatitis with atypical variants:Clinical dilemmas and natural history

Classical acute viral hepatitis(AVH)has an uncomplicated outcome.Acute liver failure has a grave prognosis.Atypical manifestations of AVH are a group of disorders that causes significant morbidity and dilemmas in children.These include prolonged cholestasis,relapsing hepatitis,ascitic form of AVH,late-onset hepatic failure(LOHF),intravascular hemolysis,and provoking an autoimmune trigger leading to autoimmune hepatitis.These entities cause significant liver dysfunction or worsening and are often difficult to differentiate from chronic liver disease(CLD).Ascitic form of AVH,LOHF,decompensated CLD and acute-onchronic liver failure have significant overlapping features that need to be carefully dissected out.In many cases,only on long-term follow-up,these clinical entities can be separately identified.Intravascular hemolysis is usually caused by associated glucose-6-phosphate dehydrogenase deficiency.Rarely CLD such as Wilson disease and autoimmune hepatitis can also present with hemolysis in the initial presentation,which can mimic AVH with hemolysis.Identifying deviations from typical manifestations aid in avoiding unnecessary investigations,allowing focused therapy and alleviating anxiety.

Mitochondrial hepatopathy: Anticipated difficulties in management of fatty acid oxidation defects and urea cycle defects

Fatty acid oxidation defects(FAOD)and urea cycle defects(UCD)are among the most common metabolic liver diseases.Management of these disorders is dotted with challenges as the strategies differ based on the type and severity of the defect.In those with FAOD the cornerstone of management is avoiding hypoglycemia which in turn prevents the triggering of fatty acid oxidation.In this review,we discuss the role of carnitine supplementation,dietary interventions,newer therapies like triheptanoin,long-term treatment and approach to positive newborn screening.In UCD the general goal is to avoid excessive protein intake and indigenous protein breakdown.However,one size does not fit all and striking the right balance between avoiding hyperammonemia and preventing deficiencies of essential nutrients is a formidable task.Practical issues during the acute presentation including differential diagnosis of hyperammonemia,dietary dilemmas,the role of liver transplantation,management of the asymptomatic individual and monitoring are described in detail.A multi-disciplinary team consisting of hepatologists,metabolic specialists and dieticians is required for optimum management and improvement in quality of life for these patients.

Portal Cavernoma Cholangiopathy in Children and the Management Dilemmas

Portal cavernoma cholangiopathy(PCC)is one of the most harrowing complications of extrahepatic portal venous obstruc-tion,as it determines the long-term hepatobiliary outcome.Although symptomatic PCC is rare in children,asymptomatic PCC is as common as that in adults.However,there are major gaps in the literature with regard to the best imaging strategy and management modality in children.Moreover,natural history of PCC and effect of portosystemic shunt surgeries in children are unclear.Neglected PCC would lead to difficult or recalcitrant biliary strictures that will require endoscopic ther-apy or bilioenteric anastomosis,both of which are challenging in the presence of extensive collaterals.There are limited studies on the effect of portosystemic shunt surgeries on the outcome of PCC in children compared to adults.In this review,we aimed to collate all existing literature on PCC in childhood and also compare with adult studies.We highlight the difficul-ties of this disease to provide a comprehensive platform to foster further research on PCC exclusively in children.