Three disorders are discussed in this chapter, including α1-antitrypsin deficiency, tyrosinemia, and urea-cycle enzyme defects. α1-Antitrypsin Deficiency The description of α1-antitrypsin deficiency and its association with lung disease was reported…
Nonalcoholic fatty liver disease (NAFLD) has evolved as the most common form of chronic liver disease in children and has become a serious public health issue. As in adults, NAFLD…
The term neonatal hepatitis originated in the 1950s when few causes of neonatal liver disease were identified, and pathologists recognized a characteristic histologic appearance of the neonatal liver in response…
Inherited mitochondrial disorders of fatty acid oxidation (FAO) and the mitochondrial respiratory chain both affect mitochondrial oxidative phosphorylation. The respiratory chain is made up of five separate complexes in the…
The term imperforate anus is a misnomer; it is commonly used to refer to a spectrum of anorectal malformations, ranging from a benign defect that requires a minor operation and…
The development of the colonoscope followed that of upper panendoscopes. Rigid proctoscopes were developed in the late 1800s, and fiberoptic techniques were adapted to visualize the sigmoid and descending colon…
Small bowel capsule endoscopy (CE) was introduced in 2001 as a noninvasive means of obtaining high-quality, color endoscopic images from the duodenum to the cecum. Soon thereafter, CE challenged traditional…
Endoscopic retrograde cholangiopancreatography (ERCP) is a combined endoscopic and radiologic procedure used for both diagnostic, and more commonly, therapeutic interventions within the pancreatic and biliary tree. The procedure utilizes the…
Hirschsprung’s disease (HD) is a disorder of distal intestinal motility that is the result of a congenital absence of ganglion cells in the myenteric plexuses of the intestine. The absence…
The earliest gastrointestinal endoscopies were performed in the late 1880s using rigid instruments, looking initially at the esophagus and rectum. The semiflexible gastroscope was developed in the early 1930s by…
