In your pediatric preceptorship, you meet a 7 year old boy who presents with fatigue and pallor. When you plot his growth on a chart, you find that he is short for his age, but he has always been this way. When you take a thorough history, you find that he has seen a doctor in the past for recurrent bacterial infections and an episode of hemorrhage. Both his parents are healthy and have no major medical conditions. However, the father said some of his relatives had been diagnosed with acute myelocytic leukemia. The mother said that some of her relatives had been diagnosed with squamous cell carcinoma of the head and neck. On exam, you notice several cafe au lait spots, "funny thumbs," and hypogonadism. Blood smear shows macrocytosis.
Challenge: What is your diagnosis?
Related Questions:
1. A deficiency in which blood cell type would lead to fatigue and pallor?
2. A deficiency in which blood cell type would lead to recurrent bacterial infections?
3. A deficiency in which blood cell type would lead to hemorrhage?
4. What is the combination of the above three findings called?
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I put together these medical challenges. The cases are hypothetical and do not necessarily represent actual or typical presentations of medical diseases. Disclaimer is at the bottom of this page.
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2 comments:
1. fatigue and pallor - RBCs
2. recurrent infections - neutrophils?
3. hemorrhage - platelets?
4. pancytopenia
PedsHemOnc
The combination of anemia, neutropenia, and thrombocytopenia suggests aplastic anemia, a rare disorder of pancytopenia and hypocellular bone marrow due to injury to pluripotent hematopoietic stem cells. The physical findings such as short stature, café au lait, abnormal thumbs, and hypogonadism suggest Fanconi anemia. This is an autosomal recessive disorder (there is also an X-linked version) in one of several genes associated with DNA repair. The normal fanconi anemia gene product contributes to genomic stability, control of apoptosis, oxygen sensitivity, and response to cytokines. One protein product is related to BRCA2. A quarter of patients will develop myelodysplastic syndrome, acute myelocytic leukemia, or squamous cell carcinoma of the head and neck.
Source: UpToDate.
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