Cardiac abnormalities and Wolfram (DIDMOAD) syndrome: a case report

详细信息    查看全文

• 作者：Shahnaz Ahmad Mir ; Bashir Ahmad S…
• 关键词：Wolfram syndrome ; DIDMOAD ; Cardiac abnormalities
• 刊名：International Journal of Diabetes in Developing Countries
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：36
• 期：1
• 页码：136-138
• 全文大小：245 KB
• 参考文献：1.Kumar S Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists. Pediatr Diabetes. 2010;11:28–37.CrossRef PubMed
  2.Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nation-wide study of Wolfram (DIDMOAD) syndrome. Lancet. 1999;346:1458–63.CrossRef
  3.Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, et al. Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. J Clin Endocrinol Metab. 2004;89:1656–61.CrossRef PubMed
  4.Bekir NA, Gungor K, Guran S. A DIDMOAD syndrome family with juvenile glaucoma and myopia findings. Acta Ophthalmol Scand. 2000;78:480–48.CrossRef PubMed
  5.Kinsley BT, Swift M, Dumont RH, Swift RG. Morbidity and mortality in the Wolfram syndrome. Diabetes Care. 1995;18:1566–70.CrossRef PubMed
  6.Ganie MA, Laway BA, Nisar S, Wani MM, Khurana ML, et al. Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India. Diabet Med. 2011;28:1337–42.CrossRef PubMed
  
• 作者单位：Shahnaz Ahmad Mir (1)
  Bashir Ahmad S (2)
  Parvaiz Ahmad Shah (2)
  Iqra Hameed (3)
  Irfan Ali (4)
  
  1. Division of Internal Medicine and Endocrinology, Government Medical College Srinagar, Srinagar, Kashmir, India
  2. Division of Neurology, Government Medical College Srinagar, Srinagar, Kashmir, India
  3. Department of Biochemistry, University of Kashmir, Srinagar, India
  4. Division of Cardiology, Government Medical College Srinagar, Srinagar, Kashmir, India
  
• 刊物主题：Medicine/Public Health, general; General Practice / Family Medicine; Health Administration; Diabetes;
• 出版者：Springer India
• ISSN：1998-3832

文摘

Cardiac abnormalities are very rarely reported to be associated with Wolfram (DIDMOAD) syndrome. We report a child who presented with cyanotic heart disease and was operated twice for cardiac lesion. At the age of 6 years, the case developed osmotic symptoms and, during evaluation, diabetes insipidus, optic atrophy and deafness were reported. DIDMOAD syndrome with atrial septal defect, severe pulmonary stenosis and hypoplastic right ventricle is not previously reported. In addition to our case, in a literature survey on all reported cases of DIDMOAD syndrome (more than 700), only 11 cases with cardiac abnormalities have been stated. Common abnormalities found are pulmonary stenosis, followed by tetralogy of Fallot and ventricular septal defects. Impact of DIDMOAD syndrome on cardiovascular development needs to be elucidated.