Final answer:
A baby with symptoms suggestive of Fanconi anemia should undergo a chromosome breakage test for diagnosis. Treatment may include blood transfusions, growth factors, and potentially curative hematopoietic stem cell transplantation, though complications can arise, including increased cancer risk and organ damage.
Step-by-step explanation:
Clinical Diagnosis and Management of a 18-Month-Old Baby
An 18-month-old baby presenting with low platelets (thrombocytopenia), low white blood cells (leukopenia), and profound anemia, along with cafe-au-lait spots, microcephaly, and the absence of thumbs and radii, is strongly suggestive of Fanconi anemia. This is a rare genetic disorder that can lead to bone marrow failure.
Diagnostic Test
To diagnose Fanconi anemia, a chromosome breakage test is typically performed, where cells from the patient are exposed to diepoxybutane or mitomycin C to test for increased susceptibility to chromosomal breakage.
Treatment Options
Three potential treatments for Fanconi anemia include:
- Blood transfusions to manage anemia and low platelet counts.
- Androgens or growth factors to stimulate blood cell production.
- Hematopoietic stem cell transplantation (HSCT), which is the only curative treatment and involves transplanting stem cells from a compatible donor to replace the defective bone marrow.
Possible Complications
Complications from Fanconi anemia may include increased risk of malignancies such as leukemia and solid tumors, as well as organ damage due to prolonged decreased blood cell counts. The bone marrow transplant itself carries risks such as graft-versus-host disease and infections.