Differential Diagnosis for White Stool in a Pediatric Patient
- Single Most Likely Diagnosis
- Biliary atresia: This condition, where the bile ducts are blocked or don't develop normally, is a common cause of white or clay-colored stools in infants. The lack of bile pigments in the stool leads to its characteristic color.
- Other Likely Diagnoses
- Cholestasis: This condition, where bile flow is reduced or blocked, can cause white stools due to the decreased amount of bile salts reaching the intestines. It can be due to various causes, including neonatal hepatitis, bile duct obstruction, or genetic disorders affecting bile transport.
- Pancreatic insufficiency: Conditions like cystic fibrosis can lead to pancreatic insufficiency, where the pancreas does not produce enough digestive enzymes. This can result in malabsorption of fats, leading to pale, greasy stools.
- Giardiasis: Infection with Giardia lamblia can cause malabsorption, leading to pale, fatty stools.
- Do Not Miss Diagnoses
- Intussusception: Although not directly causing white stools, intussusception (a condition where a part of the intestine slides into another) can lead to bowel obstruction, which might result in changes in stool color or consistency. It's a medical emergency that requires prompt diagnosis and treatment.
- Hirschsprung's disease: This congenital condition affects the large intestine and can cause severe constipation or obstruction. While it doesn't directly cause white stools, it's a critical diagnosis not to miss due to its potential for complications.
- Rare Diagnoses
- Alagille syndrome: A genetic disorder that affects the liver, heart, and other parts of the body. It can cause cholestasis, leading to white stools.
- Aagenaes syndrome: A rare genetic disorder characterized by chronic cholestasis and lymphedema. It can cause white stools due to the cholestasis.
- Zellweger spectrum disorders: A group of rare, genetic disorders affecting the breakdown of fatty acids and amino acids. They can lead to liver dysfunction and, potentially, changes in stool color.