Can continuous subcutaneous insulin infusion improve health-related quality of life in patients with Shwachman-Bodian-Diamond syndrome and diabetes?

We report the first case of the use of continuous subcutaneous insulin infusion (CSII) in a patient with Shwachman-Bodian-Diamond syndrome (SBDS) and diabetes. An Italian boy received diagnosis of SBDS at the age of 7 months (SBDS gene mutation: c.183-184TA → CT and c.258 + 2 T → C in compound heterozygous). The patient presented an impaired psychosocial functioning with difficulties in mental health, body pain experiences, attention deficit disorder, somatic complaints, behavioral and social problems. Total Intelligence Quotient (T-IQ) was within the normal range for age (T-IQ = 109). The patient developed clinical diabetes at the age of 13 years (glycemia 282 mg/dL at 120 min of oral glucose tolerance test, glycosylated hemoglobin level of 7.5%, anti-β-cell antibodies negative; glucagon test yielding a C peptide level at zero-time of 1.5 ng/mL and at 6 min of 2.0 ng/mL). Multiple daily injection therapy with insulin was started. Nevertheless, because of a relevant needle phobia and the recurrent hypoglycemia due to poor nutrition secondary to depression, after 3 years the patient started CSII. After 12 months a new evaluation showed (1) better social adaptation, (2) meliorated self-esteem and self-efficacy, (3) reduced psychosocial suffering, and (4) improved health-related quality of life, assessed by the Pediatric Quality of Life Inventory version 3.0 Diabetes Module. Thus CSII seems to be crucial to improve health-related quality of life in patients affected by diabetes and genetic disorders.