Volume 9, Issue 3 (12-2017)
2017, 9(3): 395-398 |
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Khorsand Zak H, Ehtesham Manesh H, Mafinezhad S, Monemi A. A Rare Report of the Wolfram Syndrome Associated with the Dandy-Walker Syndrome. North Khorasan University of Medical Sciences 2017; 9 (3) :395-398
URL: http://journal.nkums.ac.ir/article-1-1290-en.html
URL: http://journal.nkums.ac.ir/article-1-1290-en.html
1- Assistant Professor, Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran
2- Assistant Professor, Department of Neonatology, North khorasan University of Medical Sciences, Bojnurd, Iran
3- MA Student, Student Research Committee, North Khorasan University of Medical Sciences, Bojnurd, Iran , dr.a.monemi@gmail.com
2- Assistant Professor, Department of Neonatology, North khorasan University of Medical Sciences, Bojnurd, Iran
3- MA Student, Student Research Committee, North Khorasan University of Medical Sciences, Bojnurd, Iran , dr.a.monemi@gmail.com
Abstract: (4423 Views)
The Wolfram syndrome, also called DIDMOAD, is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus type 1, optic atrophy, diabetes insipidus, deafness and other possible various disorders.
Type of Study: Orginal Research |
Subject:
Basic Sciences
Received: 2017/12/31 | Accepted: 2017/12/31 | Published: 2017/12/31
Received: 2017/12/31 | Accepted: 2017/12/31 | Published: 2017/12/31
References
1. 1. Norooziasl S, Javadinia SA. A Case report of Wolfram Syndrome. J Birjand Univ Med Sci. 2013;20(1):102-7.
2. 2. Urano F. Wolfram Syndrome: Diagnosis, Management, and Treatment. Curr Diab Rep. 2016;16(1):6. DOI: 10.1007/s11892-015-0702-6 PMID: 26742931
3. 3. Khosravi N. Neonatal dandy-walker syndrome a case report. Razi J Med Sci. 2003;9(28):39-44.
4. 4. Braunstein GD. Hypothalamic syndromes. In: Degroot J, Jameson L, editors. Textbook of Endocrinology. 4th ed: Saunders; 2001. p. 270.
5. 5. Maricchiolo G, Genovese L, Laura R, Micale V, Muglia U. The ultrastructure of amberjack (Seriola dumerilii) sperm. Eur J Morphol. 2002;40(5):289-92. PMID: 15101444
6. 6. Alemzadeh R, Wyatt D. Diabetes mellitus in children. Nelson Text book of pediatrics. 17th ed. Philadelphia: W.B. Saunders; 2004. p. 1949-72.
7. 7. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995;346(8988):1458-63. PMID: 7490992
8. 8. Caione P, Mazzeo D, Di Marco A, Capozza N, Ceriati E. [Wolfram syndrome. Peculiar urologic aspects]. Minerva Pediatr. 1995;47(3):77-81. PMID: 7791716
9. 9. Simsek E, Simsek T, Tekgul S, Hosal S, Seyrantepe V, Aktan G. Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature. Acta Paediatr. 2003;92(1):55-61. PMID: 12650300
10. 10. Strom TM, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet. 1998;7(13):2021-8. PMID: 9817917
11. 11. Arvin A, Beheman RE, Kliegman RM. Nelson text book of pediatrics. 16th ed. Philadelphia: WB saunders; 2000.
12. 12. Menkes JH, Sarnat HB. Child Neurology. Philadelphia: Lippincotte Williams & Wilkins; 2000.
13. 13. Volpe JJ. Neurology of the Newborn, Dandy-Walker syndrome. 4th ed. Philadelphia: Lipincotte & Wilkins; 2000.
14. 14. Ecker JL, Shipp TD, Bromley B, Benacerraf B. The sonographic diagnosis of Dandy-Walker and Dandy-Walker variant: associated findings and outcomes. Prenat Diagn. 2000;20(4):328-32. PMID: 10740206
15. 15. Kolble N, Wisser J, Kurmanavicius J, Bolthauser E, Stallmach T, Huch A, et al. Dandy-walker malformation: prenatal diagnosis and outcome. Prenat Diagn. 2000;20(4):318-27. PMID: 10740205
16. Norooziasl S, Javadinia SA. A Case report of Wolfram Syndrome. J Birjand Univ Med Sci. 2013;20(1):102-7.
17. Urano F. Wolfram Syndrome: Diagnosis, Management, and Treatment. Curr Diab Rep. 2016;16(1):6. DOI: 10.1007/s11892-015-0702-6PMID: 26742931
18. Khosravi N. Neonatal dandy-walker syndrome a case report. Razi J Med Sci. 2003;9(28):39-44.
19. Braunstein GD. Hypothalamic syndromes. In: Degroot J, Jameson L, editors. Textbook of Endocrinology. 4th ed: Saunders; 2001. p. 270.
20. Maricchiolo G, Genovese L, Laura R, Micale V, Muglia U. The ultrastructure of amberjack (Seriola dumerilii) sperm. Eur J Morphol. 2002;40(5):289-92. PMID: 15101444 [DOI:10.1076/ejom.40.5.289.28902]
21. Alemzadeh R, Wyatt D. Diabetes mellitus in children. Nelson Text book of pediatrics. 17th ed. Philadelphia: W.B. Saunders; 2004. p. 1949-72.
22. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995;346(8988):1458-63. PMID: 7490992 [DOI:10.1016/S0140-6736(95)92473-6]
23. Caione P, Mazzeo D, Di Marco A, Capozza N, Ceriati E. [Wolfram syndrome. Peculiar urologic aspects]. Minerva Pediatr. 1995;47(3):77-81. PMID: 7791716
24. Simsek E, Simsek T, Tekgul S, Hosal S, Seyrantepe V, Aktan G. Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature. Acta Paediatr. 2003;92(1):55-61. PMID: 12650300 [DOI:10.1111/j.1651-2227.2003.tb00469.x]
25. Strom TM, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet. 1998;7(13):2021-8. PMID: 9817917 [DOI:10.1093/hmg/7.13.2021]
26. Arvin A, Beheman RE, Kliegman RM. Nelson text book of pediatrics. 16th ed. Philadelphia: WB saunders; 2000.
27. Menkes JH, Sarnat HB. Child Neurology. Philadelphia: Lippincotte Williams & Wilkins; 2000.
28. Volpe JJ. Neurology of the Newborn, Dandy-Walker syndrome. 4th ed. Philadelphia: Lipincotte & Wilkins; 2000.
29. Ecker JL, Shipp TD, Bromley B, Benacerraf B. The sonographic diagnosis of Dandy-Walker and Dandy-Walker variant: associated findings and outcomes. Prenat Diagn. 2000;20(4):328-32. PMID: 10740206
https://doi.org/10.1002/(SICI)1097-0223(200004)20:4<328::AID-PD806>3.0.CO;2-O [DOI:10.1002/(SICI)1097-0223(200004)20:43.0.CO;2-O]
30. Kolble N, Wisser J, Kurmanavicius J, Bolthauser E, Stallmach T, Huch A, et al. Dandy-walker malformation: prenatal diagnosis and outcome. Prenat Diagn. 2000;20(4):318-27. PMID: 10740205
https://doi.org/10.1002/(SICI)1097-0223(200004)20:4<318::AID-PD805>3.0.CO;2-U [DOI:10.1002/(SICI)1097-0223(200004)20:43.0.CO;2-U]
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