Shwachman-Diamond syndrome. Diagnostic difficulties
Shwachman-Diamond syndrome is a congenital insufficiency of the exocrine function of the pancreas due to its hypoplasia, which is combined with hematologic (including a higher risk for malignant transformations) and skeletal abnormalities. The clinical picture of Shwachman-Diamond syndrome is polymorphic and depends on the prevailing syndrome. The article discusses a clinical case of Shwachman-Diamond syndrome, and uses it as an example for analyzing possible variants of its course, diagnostic and therapeutic tactics.