Phenotypes of Liver Diseases in Infants, Children, and Adolescents

Liver disease in childhood is rare and is frequently the cause of dismay as the medical care provider attempts to recall the myriad of diagnoses that they read about during their training but may never have encountered. The aim of this chapter is to describe hepatic disease phenotypes based on age and primary manifestation of liver disease such as cholestasis, hepatomegaly, or acute liver failure and to provide a reasonably comprehensive list of hepatic diseases that may present with the clinical phenotypes. The hope is to help primary medical providers determine the differential diagnosis and thus guide early studies and appropriate referral and pediatric gastroenterologists and trainees to determine a comprehensive differential diagnosis for their patients on which to base a rational work-up and management plan. Our patients range from day-old premature infants to 18-year-old postpubescent teens and from seemingly healthy children in the outpatient clinic to profoundly sick infants in ICU on life support. The best way to determine a diagnosis safely and efficiently is to develop a deep understanding of the pathophysiology of liver disease, but even for the most experienced, a checklist of diagnostic possibilities may be helpful to ensure no oversights.