Journal of the Louisiana State Medical Society
expanding due to an improved life expectancy and a com- munitymore vigilant health surveillance. The cause of death in the current case is a large pulmonary thromboembolus (PTE). A single case report of a fatal PTE in a postoperative DS adolescent is described in the literature, making the premise of inherent hypercoagulability unlikely. 18 As such, the role that the ostium secundumatrial septal defect played, along with the finding of right ventricular cardiac dilatation and pulmonary hypertension, is unclear but leaves open the possibility for the development of a right-to-left cardiac shunt and subsequent pulmonary arterial thrombus forma- tion. 19 Continued awareness of comorbid conditions in the adult down syndrome poplulation is critical to continuing efforts at establishing practice guidelines and improving care. ACKNOWLEDGEMENTS The authors would like to gratefully acknowledge the support of the Orleans Parish Coroner’s Office for providing the case material for this report. REFERENCES 1. Parker SE, Mai CT, Canfield MA, et al. Updated National birth prevalence estimates for selected birth defects in the Unites States, 2004-2006. Birth Defects Res A . 2010;88:1008-1016. 2. Tyler C, Edman JC. Down syndrome, Turner syndrome, and Klinefelter syndrome: primary care throughout the life span. Prim Care . 2004; 31:627-648. 3. Englund A, Jonsson B, Zander CS, et al. Changes in mortality and causes of death in the Swedish Down syndrome population. Am J Med Genet A . 2013;161:642-649. 4. Smith DS. Health care management of adults with Down syndrome. Am Fam Physician . 2001;64:1031-1038. 5. McVicker RW, Shanks OE, McClelland RJ. Prevalence and associated features of epilepsy in adults with Down’s syndrome. Br J Psychiatry . 1994;164:528-532. 6. Hawli Y, Nasrallah M, El-Hajj Fuleihan G. Endocrine and musculoskeletal abnormalities in patients with Down syndrome. Nat Rev Endocrinology . 2009;5:327-334. 7. Prasher VP. Down syndrome and thyroid disorders: a review. Downs Syndr Res Pract . 1999;6:25-42. 8. Head E, Powell D, Gold BT, et al. Alzheimer’s disease in in Down syndrome. Eur J Neurodegener Dis . 2012;1:353-364. 9. Goldhaber SZ, BrownWD, RobertsonN, et al. Aortic regurgitation and mitral valve prolapse with Down’s syndrome: a case-control study. J Ment Defic Res . 1988;32:333-336. 10. Cohen WI. Health care guidelines for individuals with Down syndrome. Down Syndrome Quarterly . 1999;4:1-15. 11. Berk AT, Saatci AO, Ercal MD, et al. Occular findings in 55 patients with Down’s syndrome. Opthalmic Genet . 1996; 12. Madan V, Williams J, Lear JT. Dermatological manifestations of Down’s syndrome. Clin Exper Dermatol . 2006;31:623-629. 13. Gimenez-Barcons M, Casteras A, del Pilar Armengol M, et al. Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens. J Immunol . 2014;193:3872-3879. 14. Goldacre MJ, Wotton CJ, Seagroatt V, et al. Cancers and immune
related diseases associated with Down’s syndrome: a record linkage study. Arch Dis Child . 2004;89:1014-1017. 15. Graber E, Chacko E, RegelmannMO. Down syndrome and thyroid function. Endocrinol Metab Clin N Amer . 2012;41:735-745. 16. Popova G, Paterson WF, Brown A, et al. Hashimoto’s thyroiditis in Down’s syndrome: clinical presentation and evolution. Horm Res . 2008;70:278-284. 17. Lima FA, Moreira-Filho CA, Ramos PL, et al. Decreased AIRE expression and global thymic hypofunction in Down syndrome. J Immunol . 2011;187:3422-3430. 18. Mohan UR, Mangat JS, Sutaria N, et al. Saddle arterial embolus in a patient with Down syndrome. Pediatr Cardiol . 2006;27:117-121. 19. Silversides CK, Granton JT, Konen E, et al. Pulmonary thrombosis in adults with Eisenmenger syndrome. J Amer Coll Cardiol . 2003;42:1982-1987.
In the Department of Pathology at Louisiana State University’s School of Medicine in New Orleans, Dr. Connor is a second-year Pathology Resident; Ms. Darga is a third-year Medical Student; and Dr. McGoey is an Associate Professor of Pathology and Residency Program Director.
274 J La State Med Soc VOL 166 November/December 2014
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