For Analysis:
10 week old girl with anemia and sclerotic bones.
At six weeks of age, scout films obtained for an upper GI series, because of vomiting, revealed dense, sclerotic bones.
On physicial examination, the patient was well appearing, with mild pallor and no jaundice. The spleen was 4 cm below the costal margin. The hemoglobin was 8.7g/dL, Plts 60,000/mm ³ , WBC 15,900 /mm ³ . Three fields of the peripheral smear are shown.
Answer:
The findings of anemia, thrombocytopenia, teardrop forms, and leukoerythhroblastosis suggest a myelophthisic process.
In combination with the sclerotic bones, the most likely diagnosis is osteopetrosis. Osteopetrosis is a congenital disease characterized in each of its forms by defective osteoclast function. Osteoclasts are the cells responsible for bone resorption. They are necessary for the formation of bone marrow. In people with osteopetrosis, osteoclasts do not function normally and the cavity for bone marrow does not form. This causes bones that appear dense on x-ray, cannot resist average stressors, and therefore break easily. The condition is quite rare; incidences have been reported at 1 in 20,000-500,000 for the dominant form and 1 in 200,000 for the recessive form.
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