Table 1 Clinical features of the reported SDS patient with diabetes mellitus categorized as either typical or nontypical for Shwachman-Diamond syndrome
Summary of clinical and laboratory findings in the reported patient | ||
|---|---|---|
typical for SDS | nontypical for SDS | |
Hematologic findings | ||
Thrombocytopenia, anemia and agranulocytosis in the newborn period | ✓ | |
Bone marrow failure requiring stem cell transplantation at the age of 3 months | ✓ | |
Neutropenia | ✓ | |
Recurrent secondary infections: sepsis, labial abscess, bronchitis, gastroenteritis etc | ✓ | |
Nutrition, exocrine and endocrine pancreatic function | ||
Congenital pancreatic exocrine insufficiency | ✓ | |
Recurrent spontaneous hypoglycemia | ✓ | |
Diabetes mellitus type 1 | ✓ | |
Severe eating disorder, no oral food intake at age 5 ys | ✓ | |
Growth and development | ||
Pulmonary hypertension | ✓ | |
Muscular hypotonia | ✓ | |
Growth retardation, short stature, failure to thrive | ✓ | |
Psychomotor retardation, intellectual disability | ✓ | |