Differential Diagnosis for Steatorrhea in a 2-Year-Old Toddler
Single Most Likely Diagnosis
- Celiac Disease: This is a common cause of steatorrhea in toddlers, characterized by an immune reaction to gluten, leading to small intestine damage and malabsorption of fats and other nutrients.
Other Likely Diagnoses
- Pancreatic Insufficiency: Conditions such as cystic fibrosis can lead to pancreatic insufficiency, resulting in inadequate production of digestive enzymes and subsequent steatorrhea.
- Giardiasis: An intestinal infection caused by the Giardia parasite, which can lead to malabsorption, including steatorrhea, especially in young children.
- Lactose Intolerance or Other Carbohydrate Malabsorption: Though more commonly associated with diarrhea, in some cases, it can lead to steatorrhea due to the malabsorption of fats.
Do Not Miss Diagnoses
- Cystic Fibrosis: A genetic disorder that can lead to severe malabsorption, respiratory issues, and other complications. Early diagnosis is crucial for management and improving quality of life.
- Shwachman-Diamond Syndrome: A rare genetic disorder characterized by pancreatic insufficiency, bone marrow failure, and skeletal abnormalities. It's critical to diagnose this condition early due to its potential for severe complications.
- Chronic Infections (e.g., HIV): Certain chronic infections can lead to malabsorption and steatorrhea. Identifying and treating the underlying infection is vital.
Rare Diagnoses
- Abetalipoproteinemia: A rare inherited disorder affecting the absorption of fat and fat-soluble vitamins, leading to steatorrhea and other systemic issues.
- Pearson Syndrome: A rare mitochondrial disorder that affects multiple systems, including the pancreas, leading to malabsorption and steatorrhea, among other symptoms.
- Congenital Enteropathy: A group of rare disorders affecting the intestine's ability to absorb nutrients, which can present with steatorrhea among other gastrointestinal symptoms.