Gastrointestinal Disorders in Pediatrics

Gastrointestinal and Hepatobiliary Disorders

• Presented by Professor Abdellatif Abdelmoez, Professor of Pediatrics, Asyut University.

Abdominal Wall Defects

• Umbilical hernia
• Omphalocele
• Gastroschisis

Umbilical Hernia

• Failure of the umbilical ring closure; weakness of abdominal muscles.
• Most are small and resolve within 1-2 years without treatment.
• Surgery is required if the hernia continues to grow after 1-2 years, shows symptoms (such as strangulation or incarceration), or persists after age 4.

Omphalocele

• Failure of intestines to return to the abdominal cavity; gut protrudes through the umbilicus.
• Covered by a sac, providing protection.
• Often associated with other major malformations and potential genetic disorders (e.g., trisomy).
• Large omphaloceles require staged surgical reduction (using a silo) to prevent respiratory failure and ischemia.

Gastroschisis

• Defect in the abdominal wall, lateral to the umbilicus.
• Any part of the gastrointestinal (GI) tract may protrude.
• Not covered by a sac.
• Associated with significant intestinal abnormalities (atresia, stenosis, ischaemia, short gut).
• Surgical intervention varies based on the condition of the intestines: large lesions with no ischemia typically needing staged reduction, similar to omphalocele.

Necrotizing Enterocolitis (NEC)

• Transmural intestinal necrosis.
• Prematurity is the biggest risk factor; rare in full-term infants.
• Commonly arises from the introduction of feeds, often characterized by bloody stools, apnea, lethargy, and abdominal distention (once perforation has occurred).
• Pneumatosis intestinalis (air in the bowel wall) is a hallmark sign, visible on plain abdominal X-rays.
• Treatment includes cessation of feeds, using gut decompression, systemic antibiotics, and supportive care.
• Surgical resection of necrotic bowel is sometimes necessary.

Imperforate Anus

• Failure to pass stool after birth; absence of an anal opening.
• Surgical correction is the treatment.
• Can be part of a VACTERL association.

VACTERL Association

• A constellation of congenital anomalies involving Vertebral defects, Anal atresia, Cardiac defects, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities.
• A diagnosis is usually made based on presence of three or more features in the clinical presentation.
• Associated with a normal level of intelligence in patients and the mode of inheritance appears to be sporadic.
• Ventricular septal defects (VSDs) are the most common cardiac defects associated.

Neonatal Jaundice

• Yellowish discoloration of the eyes, skin, and mucous membranes in the first month of life due to elevated bilirubin levels in the blood.
• Pathophysiology includes increased production of bilirubin from fetal red blood cell breakdown, along with immature hepatic conjugation and elimination in the first week of life.
• Increased unconjugated bilirubin can cross the blood-brain barrier, leading to kernicterus (bilirubin encephalopathy).
• Jaundice in the first 24 hours or rapidly increasing bilirubin levels (>5 mg/dL/day) or bilirubin >13 mg/dL in term infants, or direct bilirubin >2 mg/dL at any time warrants further investigation.

Physiologic vs. Pathologic Jaundice

• Physiologic jaundice: Usually appears on the second or third day of life in full-term newborns, peaks on the second or third day and resolves by the 7th day (in term infants). Bilirubin levels are usually low (<13 mg/dL). Rise is normally <5 mg/dL/day
• Pathologic jaundice: Can appear within the first 24 hours of life, persist beyond the 7th day (or 3 weeks in premature babies). It’s potentially due to an underlying condition (can be conjugated or unconjugated). Rises are typically greater than 5 mg/dL/day, or above 13 mg/dL in term infants.

Biliary Atresia

• Progressive obliterative cholangiopathy leading to obstruction of the extrahepatic bile ducts.
• Characterized by conjugated hyperbilirubinemia (direct bilirubin is elevated), poor feeding, vomiting, lethargy, hepatosplenomegaly, acholic (clay-colored) stools, and dark urine.
• Generally presents in the first 2 weeks of life.
• Diagnosis involves an ultrasound and liver biopsy.
• Treatment typically involves the Kasai procedure initially, followed by liver transplantation as an option for long-term management.

Bilirubin Metabolism

• Bilirubin is a byproduct of red blood cell breakdown.
• Unconjugated (indirect-acting) bilirubin is fat-soluble and binds to albumin for transport.
• Hepatic conjugation converts unconjugated bilirubin to conjugated (direct-acting) bilirubin, making it water-soluble, and enabling excretion.
• Conjugated bilirubin is eliminated in bile and urine.

Breast-feeding Jaundice vs. Breast Milk Jaundice

• Breastfeeding jaundice: Results from poor feeding and inadequate calorie intake, often in first-time mothers, characterized by early appearance.
• Breast milk jaundice: Due to glucuronidase in breast milk, typically develops a few days after adequate breastfeeding has begun, resolves spontaneously over a few weeks or months.

Hemolytic Disease of the Newborn

• An immune-mediated hemolytic disorder typically triggered by Rh or ABO incompatibility between mother and fetus.
• Incompatibility causes the mother to create antibodies which attack the red blood cells of the fetus.
• Symptoms include jaundice and increased unconjugated bilirubin, likely to develop in the first 24 hours of birth.
• Diagnosis involves testing for the presence of antibodies (anti-Rh, anti-A, anti-B, etc.).

Additional Information

• Diagnostic approach to neonatal jaundice involves assessing various factors to determine whether the jaundice is physiological or abnormal.
• Workup for pathologic jaundice should consider factors such as: age of manifestation, rate of bilirubin increase, or presence of direct bilirubin.
• Specific treatments of various types of neonatal jaundice are mentioned.

Quiz Questions

• A new-born displaying uncovered intestinal loops in the right paraumbilical area likely has what condition? (Gastroschisis)
• A preterm baby with IV nutritional support initially, followed by enteral feeding, presenting with lethargy, apnea, bloody stools and abdominal distension has what risk factor prominent? (Prematurity and IV feeding)
• A 3-day-old breastfed infant with yellowish skin, type O blood (baby & mother) has a total serum bilirubin of 11.8 mg/dL, and direct serum bilirubin of 0.2 mg/dL. What diagnosis is most likely? (Physiological jaundice)
• A primiparous woman with a type O positive blood gives birth to a child with A positive blood. The serum bilirubin level is 10 mg/dL, and Reticulocytes 8%, at 18 hours of age. What next step would be taken? (Direct Coombs’ test, measuring G6PD level and blood smear)

This quiz covers key topics related to gastrointestinal and hepatobiliary disorders in pediatrics, including abdominal wall defects such as umbilical hernia, omphalocele, and gastroschisis. It discusses their definitions, symptoms, and treatment options, providing a comprehensive overview for medical students and professionals.