Endocrine Abstracts

Introduction: Schwachman–Diamond syndrome (SDS) is usually manifested with exocrine pancreatic insufficiency, short stature, and chronic neutropenia. SDS associated with osteoporosis and diabetes mellitus (DM) presenting with ketoacidosis is quite rare.

Case: A 29-year-old woman was admitted to emergency room with symptoms of frequent urination and confusion. She had not history of diabetes mellitus or any other disease. On her examination, she had no orientation and cooperation. She appeared dehydrated. Lab findings were as follows: Hg: 15.5/μl, WBC: 1200/μl (NEU: 100/μl), glucose: 483 mg/dl, total protein: 5.5, albumin: 2.2, calcium: 5.6 mg/dl, phosphorus: 0.1 mg/dl, pH: 6.94, HCO₃: 4.3 mmol/l. At urinalysis, ketonuria was +3. Patient was hospitalized and treated with i.v. fluid and electrolyte replacement and insulin infusion. Stool analysis revealed rare protein fibers. Her serum amylase and lipase were determined at relatively lower levels. Her bone survey was performed and osteopenia (L2 T score: −1.65, Z score: −1.63 and trochanter of femur T score: −2.29, Z score: −1.95) was detected. 25OH vit D was 6, PTH was 99. Her HbA1c was 11.4%, C-peptide was 1.8 (0.4–4) and anti-insulin antibody was positive. Pancreatic atrophy was detected on abdominal computed tomography. Because she had neutropenia, findings of malabsorbtion and pancreatic atrophy, the patient was considered as SDS. Genetic analysis was performed for monosomy 7. So the patient was diagnosed as SDS. Pancreatic enzymes and insulin replacement was administered. After clinical and laboratory improvement, she was discharged and she had cyclic neutropenia attacks in her follow-up.

Conclusion: Despite DM and SDS rarely coexists, the probability of this condition must be considered in diabetic patients whose clinical features fit. Genetic analysis should be done to support diagnosis and patients should be followed up to late stages in order not to overlook complications such as osteoporosis and malnutrition.