16 December 2016 (Friday) - Severe Congenital Neutropenia
I came across a case of severe congenital neutropenia this morning. This is a nasty condition that causes affected individuals to be prone to recurrent infections because of a deficiency of neutrophils.
The neutropenia is apparent at birth or soon afterward. It leads to recurrent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis
In people with severe congenital neutropenia, these bone disorders can begin at any time from infancy through adulthood.
Approximately 20 percent of people with severe congenital neutropenia develop leukemia or myelodysplastic syndrome during adolescence.
Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.
It turns out there are half a dozen different forms of the condition…
Labels: case study