SUN-LB050 Patient with Cockayne Syndrome with Severe Insulin Resistant Diabetes Mellitus

Abstract

Background: Cockayne Syndrome (CS) is a rare, autosomal-recessive neurodegenerative disorder characterized by microcephaly, dwarfism, failure to thrive, and developmental delay. Previous studies show a possible association with abnormal glucose metabolism with an incidence of 13%1. Clinical Case: Our patient is a 16-year-old Hispanic female with CS Type I complicated by sensorineural hearing loss, bilateral cataracts, peripheral retinal degeneration and with G-tube dependence. She had an unremarkable birth history and normal development until 11 months, when she started to exhibit delay. At age 6, she was officially diagnosed with CS. She was initially able to ambulate with a walker and communicate by sign language but began to have a more rapid decline with loss of sight and hearing at age 14. At age 16, she presented to our care after developing a generalized tonic-clonic seizure. Although she did not have a history of diabetes mellitus, at an outside emergency center her glucose was 976 mg/dL. She was then transferred to our facility. The patient’s height was 96 cm, weight was 16 kg, with BMI of 17.40 kg/m2. On the second day of admission, her maximum glucose was 433 mg/dL. Her glucose values trended upwards, despite increasing insulin doses, peaking at 572 mg/dL on day 11. Her insulin requirements during this time ranged from 0.3 units/kg/day up to 6.9 units/kg/day on day 12, illustrating her insulin resistance. Her maximum glucose then began to trend downwards from 426 mg/dL on day 12 to 160 mg/dL at discharge on day 22, with insulin requirements decreasing correspondingly. She was discharged with Lantus 3 units qHS and sliding scale insulin. Conclusion: We present a rare case of a normal weight individual with CS and new onset severe insulin resistant diabetes mellitus, with significant challenges in controlling glycemia with insulin alone. A potential association of CS with insulin resistance needs further study. Reference: (1) Wilson et al. (2015). The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. Genetics in Medicine, 18(5), pp.483-493. Unless otherwise noted, all abstracts presented at ENDO are embargoed until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. s presented at a news conference are embargoed until the date and time of the news conference. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.