Definition:
Shwachman-Diamond syndrome (SDS) is a rare congenital disorder that occurs in just about one in 50,000 births. This syndrome affects multiple organs in the body and symptoms may differ from one individual to another. People who have Shwachman-diamond syndrome are at a great risk of developing life-threatening complications such as severe infections, acute myelogenous leukemia and bone marrow failure in addition to exocrine pancreatic dysfunctions.
Diagnosis:
Shwachman-Diamond syndrome is most of the time diagnosed during infancy or newborn period; oftentimes due to malabsorption presentations and intermittent infections. Clinical symptoms and characteristic features are useful in confirming diagnosis of the syndrome because some symptoms are often discontinuous and varying.
Treatment:
Symptomatic treatment is necessary for Shwachman syndrome like pancreatic enzyme supplementation, treatment and prevention of complications and infections, treatment for hematologic anomalies and prevention of orthopedic deformities.
Symptoms and Signs:
The primary characteristics of Shwachman-diamond syndrome include:
• Inadequate production of some types of white blood cells due to bone marrow problems (Thrombocytopenia and Neutropenia)
• Difficulties in digesting food because the cells of the pancreas do not function properly
• Skeletal abnormalities predominantly in the hip, leg bones, femur and rib cage seen through X-ray
• Enlarged liver and sometimes chronic liver disease
• Bone lesions
• Infants with the syndrome often present diarrhea and oily and foul-smelling stool.
Causes:
Shwachman syndrome can be inherited in an autosomal recessive pattern with gene mutations located in chromosome 7q11.
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