Differential Diagnosis for a 2-year-old Female with Monthly Recurrent Fever and Abdominal Pain
- Single most likely diagnosis:
- Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) syndrome: This condition is characterized by recurrent episodes of fever, often accompanied by other symptoms such as abdominal pain, and is common in young children. The monthly recurrence and absence of other explanatory findings make this a strong consideration.
- Other Likely diagnoses:
- Familial Mediterranean Fever (FMF): An autosomal recessive disorder that causes recurrent episodes of fever and abdominal pain, often beginning in childhood. Although less common than PFAPA, it's a possibility given the symptoms.
- Inflammatory Bowel Disease (IBD): Conditions like Crohn's disease or ulcerative colitis can present with recurrent abdominal pain and fever. The presence of leukocytosis and elevated CRP supports an inflammatory process.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.):
- Appendicitis: Although the recurrent nature of the symptoms makes this less likely, appendicitis can present atypically in young children and is a surgical emergency.
- Neoplastic conditions (e.g., lymphoma): Rarely, recurrent fever and abdominal pain can be symptoms of an underlying malignancy. The presence of significant leukocytosis and elevated CRP warrants consideration of this possibility.
- Tuberculosis: Especially if the child has been exposed to someone with TB, this could be a cause of recurrent fever and abdominal pain, and is critical to diagnose due to its treatability and public health implications.
- Rare diagnoses:
- Hyper-IgD syndrome (HIDS): A rare autoinflammatory disorder characterized by recurrent episodes of fever, often with abdominal pain, and significantly elevated IgD levels.
- TNF receptor-associated periodic syndrome (TRAPS): Another rare autoinflammatory disorder that presents with recurrent fever episodes, which can be accompanied by abdominal pain among other symptoms.
- Cyclic Neutropenia: A rare condition where the neutrophil count periodically drops, leading to recurrent infections and potentially fever and abdominal pain during these episodes.