Abstract
Background: Autoimmune diseases including thyroid disorders, type 1 diabetes and celiac disease are commoner in persons with Down’s syndrome compared with the general population. Coexistent type 1 diabetes and hyperthyroidism in Down’s syndrome is however not commonly reported in literature.
Objective: To report a case of a lady presenting with Graves’ disease and type 1 diabetes at the same time.
Clinical Presentation: We report the case of a 22-year-old lady with Down’s syndrome who presented with weight loss, polyuria and polydipsia. Physical examination revealed typical dysmorphicfacies of Down’s syndrome and a goitre. Laboratory data revealed hyperglycaemia (random plasma glucose-331 mg/dl). She also had biochemical evidence in keeping with hyperthyroidism and markedly elevated thyroid peroxidase antibodies (>1087.0 IU/ml). She improved after rehydration, insulin therapy and antithyroid drugs.
Conclusion: Coexisting autoimmune diseases may present in patients with Down’s syndrome. We advocate for routine screening for diabetes and thyroid dysfunction in persons with Down’s syndrome.
Keywords: Autoimmune diseases, Down’s syndrome, Graves’ disease, Type 1 diabetes
Resume
Contexte: Les maladies auto-immunes, y compris les troubles de la thyroïde, le diabète de type 1 et la maladie céliaque sont plus fréquentes chez les personnes atteintes du syndrome de Down par rapport à la population générale. La coexistence du diabète de type 1 et de l'hyperthyroïdie dans le syndrome de Down n'est toutefois pas fréquemment rapportés dans la littérature.
Objectif: Pour rapporter un cas d'une dame présentant avec la maladie de Graves et de diabète de type 1 au même moment.
Présentation clinique: Nous rapportons le cas d'une dame de 22 ans avec syndrome de Down qui présentait avec perte de poids, polyurie et polydipsie. L'examen physique a révélé des dysmorphie-facies typiques du syndrome de Down et un goitre. Les données laboratoire ont révélé une hyperglycémie (plasma aléatoire glucose-331 mg / dl). Elle a également eu des preuves biochimiques en accord avec l'hyperthyroïdie et des anticorps de thyroïde peroxydase àélévation marquée (> 1087,0 UI / ml). Elle a amélioré après la réhydratation, la thérapie à l'insuline et des médicaments antithyroïdiens.
Conclusion: La coexistencedes maladies auto-immunespeuvent présenter chez les patients atteints du syndrome de Down. Nous soutenons pour le dépistage systématique du diabète et du dysfonctionnement thyroïdien chez les personnes atteintes du syndrome de Down.
Mots-clés: Maladies auto-immunes, Syndrome de Down, Maladie de Graves, Diabète de type 1
Correspondence: T.O. Akande, Department of Medicine, College of Medicine, University of Ibadan, Nigeria. E-mail: fumkande@yahoo.com
References
Jacobs PA, Baikie AG, Court Brown WM and Strong JA. The somatic chromosomes in mongolism. Lancet. 1959;1(7075):710.
Lammer C and Weimann E. Early onset of type I diabetes mellitus, Hashimoto’s thyroiditis and celiac disease in a 7-yr-old boy with Down’s syndrome. Pediatric diabetes. 2008;9(4 Pt 2):423-425.
Rohrer TR, Hennes P, Thon A, et al. Down’s syndrome in diabetic patients aged <20 years: an analysis of metabolic status, glycaemic control and autoimmunity in comparison with type 1 diabetes. Diabetologia. 2010;53(6):1070-1075.
Santos R, Correia S, Pereira C and Sampaio L. Type 1 diabetes mellitus, hypothyroidism and celiac disease in a girl with Down’s syndrome—a rare association. Journal of pediatric endocrinology and metabolism : JPEM. 2009;22(5):455-457.
Marques I, Silva A, Castro S and Lopes L. Down syndrome, insulin-dependent diabetes mellitus and hyperthyroidism: a rare association. BMJ case reports. 2015;2015.
Unachak K, Tanpaiboon P, Pongprot Y, et al. Thyroid functions in children with Down’s syndrome. Journal of the Medical Association of Thailand. 2008;91(1):56-61.
Moosa S, Segal DG, Christianson AL and Gregersen NE. Thyroid dysfunction in a cohort of South African children with Down syndrome. South African medical journal. 2013;103(12 Suppl 1):966-970.
Prasher VP. Down syndrome and thyroid disorders: a review. Down’s syndrome, research and practice : the journal of the Sarah Duffen Centre / University of Portsmouth. 1999;6(1):25-42.
Alnaqdy A and Al-Maskari M. Determination of the levels of anti-thyroid-stimulating hormone receptor antibody with thyroid peroxidase antibody in Omani patients with Graves’ disease. Medical principles and practice : international journal of the Kuwait University, Health Science Centre. 2005;14(4):209-212.
Anwar AJ, Walker JD and Frier BM. Type 1 diabetes mellitus and Down’s syndrome: prevalence, management and diabetic complications. Diabetic medicine : a journal of the British Diabetic Association. 1998;15(2):160-163.
Kota SK, Tripathy PR, Kota SK and Jammula S. Type 2 diabetes mellitus: An unusual association with Down’s syndrome. Indian J Hum Genet. 2013;19(3):358-359.
Akande TO, Adeleye JO and Kadiri S. Insulin resistance in Nigerians with essential hypertension. African health sciences. 2013;13(3):655-660.
Dimitriadis G, Baker B, Marsh H, et al. Effect of thyroid hormone excess on action, secretion, and metabolism of insulin in humans. American Journal of Physiology-Endocrinology And Metabolism. 1985;248(5):E593-E601.
Udiong CE, Udoh AE and Etukudoh ME. Evaluation of thyroid function in diabetes mellitus in Calabar, Nigeria. Indian journal of clinical biochemistry : IJCB. 2007;22(2):74-78.
Cuadrado E and Barrena MJ. Immune dysfunction in Down’s syndrome: primary immune deficiency or early senescence of the immune system? Clinical immunology and immunopathology. 1996;78(3):209-214.