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Abstract
RÉSUMÉ
Le diabète sucré est une affection caractérisée par une hyperglycémie chronique nécessitant un traitement à vie. Il touche toutes les catégories d’âge. Chez l’enfant ou l’adolescent il s’agit dans la plupart des cas d’un diabète de type1, due à un déficit de sécrétion de l’insuline. Les autres étiologies spécifiques chez l’enfant sont exceptionnelles. Les auteurs rapportent le cas d’une adolescente chez qui le diabète a été découvert au décours d’un coma céto-acidosique. L’existence avant son admission d’un trouble visuel a orienté vers le diagnostic d’une rétinite pigmentaire et son association à la polydactylie retrouvée à l’examen clinique ont permis de poser le diagnostic d’un syndrome de Bardet-Biedl.
ABSTRACT
Diabetes mellitus is a condition characterized by chronic hyperglycemia requiring lifelong treatment. It affects all age categories. In children or adolescents, most cases are type 1 diabetes, due to a deficit in insulin secretion. Other specific etiologies in children are exceptional. The authors report a case of an adolescent girl in whom diabetes was discovered during a ketoacidosis coma. The existence before admission of a visual disorder made it possible to diagnose retinitis pigmentosa and its association with polydactyly found on clinical examination led to the diagnosis of Bardet-Biedl syndrome.
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References
- World Health Organization: Classification of diabetes mellitus . Geneva: World
- Health Organization; 2019.
- IDF Diabetes Atlas. 8th Edition. Brussels: International Diabetes Federation, 2017.
- Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE,et al. Basal body dysfunction is an expected cause of pleiotropic Bardet–Biedl syndrome. Nature.2003;425:628–33. https:// doi. org/ 10. 1038/ natur e02030.
- Adams M, Smith UM, Logan CV, Johnson CA. Recent advances in the molecular pathology, cell biology and genetics of ciliopathies. J Med Genet. 2008;45:257–67. https:// doi. org/ 10. 1136/ jmg. 2007. 054999
- Beales PL, Elcioglu N. New criteria for improved diagnosis of Bardet–Biedl syndrome: results of a population survey. J Med Genet. 1999;36:437–46.
- Bardet G. Sur un syndrome d’obesitecongenitale avec Polydactilieetretinitepigmentaire (contribution à l’etude des formes cliniques de l’obesite hypophysaire) [On congental obesity syndrome with poly-dactyly and pigmentary retinitis (contributions to the study of clinical forms of pituitary obesity)]. Amedee Le Grand. 1920;470:407.
- Biedl A. Ein Geschwisterpaar mit adiposo-genitaler Dystrophie [A pair of siblings with adiposogenital dystrophy]. Dtsch Med Woschenschr.1922;48:1630.
- Forsythe E, Beales PL. Bardet–Biedl syndrome. Eur J Hum Genet.2013;21(1):8. https:// doi. org/ 10. 1038/ ejhg. 2012. 115.
- Jackson W, Hofman PL, Robinson EM, Elliot RB, Pilcher CC, Cutfield WS. The changing presentation of children with newly diagnosed type 1 diabetes mellitus. Pediatr.Diabetes. 2001;2:154–159.
- O.A.M.A Elawad , MA Dafallah,MMM Ahmed et al. Bardet–Biedl syndrome: a case series. Journal of Medical Case Reports (2022) 16:169
- https://doi.org/10.1186/s13256-022-03396-6
- F Escallon ,EI. Traboulsi, R.Infante. A Family With the Bardet-Biedl Syndrome and Diabetes Mellitus. Arch Ophthalmol 1989;107:855-857
- R. Gharbi, J. Bouslimi, B. Ben Rhaiem, H. Abdelkalek, H. Saidi . Syndrome de Bardet-Biedl: à propos d’un cas. Annales d’Endocrinologie 75 (2014) 451–466. http://dx.doi.org/10.1016/j.ando.2014.07.643
References
World Health Organization: Classification of diabetes mellitus . Geneva: World
Health Organization; 2019.
IDF Diabetes Atlas. 8th Edition. Brussels: International Diabetes Federation, 2017.
Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE,et al. Basal body dysfunction is an expected cause of pleiotropic Bardet–Biedl syndrome. Nature.2003;425:628–33. https:// doi. org/ 10. 1038/ natur e02030.
Adams M, Smith UM, Logan CV, Johnson CA. Recent advances in the molecular pathology, cell biology and genetics of ciliopathies. J Med Genet. 2008;45:257–67. https:// doi. org/ 10. 1136/ jmg. 2007. 054999
Beales PL, Elcioglu N. New criteria for improved diagnosis of Bardet–Biedl syndrome: results of a population survey. J Med Genet. 1999;36:437–46.
Bardet G. Sur un syndrome d’obesitecongenitale avec Polydactilieetretinitepigmentaire (contribution à l’etude des formes cliniques de l’obesite hypophysaire) [On congental obesity syndrome with poly-dactyly and pigmentary retinitis (contributions to the study of clinical forms of pituitary obesity)]. Amedee Le Grand. 1920;470:407.
Biedl A. Ein Geschwisterpaar mit adiposo-genitaler Dystrophie [A pair of siblings with adiposogenital dystrophy]. Dtsch Med Woschenschr.1922;48:1630.
Forsythe E, Beales PL. Bardet–Biedl syndrome. Eur J Hum Genet.2013;21(1):8. https:// doi. org/ 10. 1038/ ejhg. 2012. 115.
Jackson W, Hofman PL, Robinson EM, Elliot RB, Pilcher CC, Cutfield WS. The changing presentation of children with newly diagnosed type 1 diabetes mellitus. Pediatr.Diabetes. 2001;2:154–159.
O.A.M.A Elawad , MA Dafallah,MMM Ahmed et al. Bardet–Biedl syndrome: a case series. Journal of Medical Case Reports (2022) 16:169
https://doi.org/10.1186/s13256-022-03396-6
F Escallon ,EI. Traboulsi, R.Infante. A Family With the Bardet-Biedl Syndrome and Diabetes Mellitus. Arch Ophthalmol 1989;107:855-857
R. Gharbi, J. Bouslimi, B. Ben Rhaiem, H. Abdelkalek, H. Saidi . Syndrome de Bardet-Biedl: à propos d’un cas. Annales d’Endocrinologie 75 (2014) 451–466. http://dx.doi.org/10.1016/j.ando.2014.07.643