Differential Diagnosis
The patient's complex presentation of symptoms requires a comprehensive differential diagnosis. The following categories outline potential diagnoses:
- Single Most Likely Diagnosis
- Systemic Mastocytosis: This condition is characterized by the accumulation of mast cells in various organs, leading to a wide range of symptoms, including pruritus, abdominal pain, diarrhea, vomiting, and cardiovascular instability. The presence of ADHD, restless legs, and a history of seizures may be related to the systemic effects of mast cell mediators. Elevated liver enzymes and inflammation in the neck and right hand could be attributed to mast cell infiltration.
- Other Likely Diagnoses
- Hyperthyroidism: This condition can cause rapid heart rate, weight loss, diarrhea, vomiting, and abdominal pain. However, it may not fully explain the presence of pruritus, inflammation, and nocturnal low-grade fevers.
- Autoimmune Hepatitis: This condition can cause elevated liver enzymes, abdominal pain, and diarrhea. However, it may not fully explain the presence of ADHD, restless legs, and a history of seizures.
- Sarcoidosis: This condition can cause inflammation in various organs, including the liver, lungs, and skin, leading to symptoms such as abdominal pain, diarrhea, and pruritus. However, it may not fully explain the presence of ADHD, restless legs, and a history of seizures.
- Do Not Miss Diagnoses
- Pheochromocytoma: This rare tumor can cause episodic hypertension, tachycardia, and other symptoms due to excessive catecholamine release. Although it may not fully explain all symptoms, missing this diagnosis could be life-threatening.
- Neuroendocrine Tumor: This type of tumor can cause a wide range of symptoms, including abdominal pain, diarrhea, and flushing, due to the release of various hormones and peptides. Although it may not fully explain all symptoms, missing this diagnosis could be life-threatening.
- Rare Diagnoses
- Eosinophilic Gastroenteritis: This rare condition is characterized by eosinophilic infiltration of the gastrointestinal tract, leading to symptoms such as abdominal pain, diarrhea, and vomiting.
- Mast Cell Activation Syndrome: This condition is characterized by the activation of mast cells, leading to a wide range of symptoms, including pruritus, abdominal pain, and cardiovascular instability.
- Whipple's Disease: This rare bacterial infection can cause a wide range of symptoms, including abdominal pain, diarrhea, and weight loss, due to the infection of the small intestine.