A male infant presents with fatty, foul smelling diarrhea, poor growth (<3rd percentile for height, <3rd percentile for weight), and recurrent infections. His bowel movements are pale, greasy, and voluminous though with time, this symptom may resolve. He also keeps presenting with pneumonias and otitis medias. Labs show a pancytopenia as well as a low trypsinogen level. A sweat test is negative. A bone marrow biopsy shows hypocellular marrow. Full examination shows skeletal abnormalities such as metaphyseal dysostosis, thoracic dystrophies, and osteopenia. Notably, his parents are tested for the disorder he has and they are both found to be carriers of the genetic mutation. Down the line, the patient is at higher risk for myelodysplastic syndrome and AML.
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3 comments:
Shwachman-Diamond Syndrome
ADA deficency?
Hard as a...
This is Shwachman-Diamond syndrome, an autosomal recessive disorder that presents in infancy with exocrine pancreatic insufficiency and bone marrow failure.
Source: UpToDate.
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