What is the diagnosis for a 5-year-old male presenting with recurrent fevers, episodic nose bleeds, fatigue, and pallor, with a family history of Non-Hodgkin's Lymphoma, thyroid cancer, and skin cancer, and a personal history of intermittent fevers since infancy, treated with Tylenol (acetaminophen) and Ibuprofen (ibuprofen)?

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Last updated: May 1, 2025 • View editorial policy

Differential Diagnosis for Santiago

  • Single most likely diagnosis + Juvenile Myelomonocytic Leukemia (JMML): This diagnosis is considered due to the patient's recurrent fevers, fatigue, pale skin, and random nose bleeds. JMML is a rare form of leukemia that can present with these symptoms, and the patient's age and lack of other explanations for his symptoms make this a plausible diagnosis.
  • Other Likely diagnoses + Acute Lymphoblastic Leukemia (ALL): Given the patient's symptoms of fevers, fatigue, and pale skin, ALL is a possible diagnosis. The random nose bleeds could be indicative of thrombocytopenia, which is a common finding in ALL. + Autoimmune Neutropenia: This condition could explain the patient's recurrent fevers and fatigue, as well as his pale skin. The random nose bleeds could be related to the neutropenia. + Chronic Myeloid Leukemia (CML): Although less common in children, CML could present with similar symptoms, including fevers, fatigue, and pale skin.
  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed.) + Acute Myeloid Leukemia (AML): AML is a highly aggressive form of leukemia that can present with similar symptoms to those experienced by Santiago. It is essential to rule out AML due to its poor prognosis if left untreated. + Lymphoma: Given the family history of Non-Hodgkin's Lymphoma, it is crucial to consider lymphoma as a possible diagnosis, despite its lower likelihood. + Sickle Cell Disease: Although the patient's diet and lack of other symptoms may not suggest sickle cell disease, it is essential to rule out this condition due to its potential for severe complications if left untreated.
  • Rare diagnoses + Fanconi Anemia: This rare genetic disorder can increase the risk of developing leukemia and other cancers. The patient's family history of cancer and his symptoms make this a possible, although unlikely, diagnosis. + Shwachman-Diamond Syndrome: This rare condition can present with similar symptoms, including fevers, fatigue, and pale skin, as well as an increased risk of leukemia. + Kostmann Syndrome: This rare condition is characterized by severe congenital neutropenia, which could explain the patient's recurrent fevers and fatigue.

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