Öz
Laurence Moon Bardet Biedl syndrome is a rare, autosomal recessive disorder. Patients present with obesity, renal abnormalities, visual abnormalities, hypogonadism and mental retardation. In this case report, a 11-year-old male patient presented with absence of perception and retinitis pigmentosa who was diagnosed with Laurence Moon Bardet Biedl Syndrome. It was noted that one of the rare causes of mental retardation and retinitis pigmentosa is Bardet Biedl syndrome
Anahtar Kelimeler
Bardet Biedl syndrome mental retardation retinitis pigmentosa
Kaynakça
- Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med. 1989;321: 1002–9. [CrossRef]
- Castro-Sánchez S, Álvarez-Satta M, Valverde D. Bardet-Biedl syndrome: A rare genetic disease. J Pediatr Genet. 2013;2: 77-83. [CrossRef]
- Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F: A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. Obes Rev 2002;3: 123-35.
- Moore SJ, Green JS, Fan Y, et al., Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005;132:352- 60. [CrossRef]
- Priya S, Nampoothiri S, Sen P, Sripriya S. Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64 :620-7. [CrossRef]
- Bahceci M, Dolek D, Tutuncuoglu P, Gorgel A, Oruk G, Yenen I. A case series of Bardet-Biedl syndrome in a large Turkish family and review of the literature. Eat Weight Disord. 2012;17: 66-9.
- Beales PL, Reid HA, Griffiths MH, Maher ER, Flinter FA, Woolf AS. Renal cancer and malformations in relatives of patients with Bardet- Biedl syndrome. Nephrol Dial Transplant 2000;15: 1977-85.
Zihinsel Yetersizlik ve Retinitis Pigmentosa Birlikteliğinin Nadir Bir Nedeni: Laurence Moon Bardet Biedl Sendromu
Öz
Laurence Moon Bardet Biedl sendromu nadir, otozomal resesif bir hastalıktır. Hastalar obezite, renal anormallikler, görme anormallikleri, hipogonadizm ve zihinsel yetersizlik ile prezente olurlar. Bu olgu sunumunda 11 yaşında algılama güçlüğü ve retinitis pigmentosa ile başvuran ve incelemeler sonucu Laurence Moon Bardet Biedl Sendromu tanısı alan erkek hasta literatür bilgileri doğrultusunda değerlendirilerek sunulmuştur. Zihinsel yetersizlik ve retinitis pigmentosanın nadir nedenlerinden birinin Bardet Biedl sendromu olabileceğine dikkat çekilmiştir
Anahtar Kelimeler
Bardet Biedl sendromu zihinsel yetersizlik retinitis pigmentosa
Kaynakça
- Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med. 1989;321: 1002–9. [CrossRef]
- Castro-Sánchez S, Álvarez-Satta M, Valverde D. Bardet-Biedl syndrome: A rare genetic disease. J Pediatr Genet. 2013;2: 77-83. [CrossRef]
- Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F: A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. Obes Rev 2002;3: 123-35.
- Moore SJ, Green JS, Fan Y, et al., Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005;132:352- 60. [CrossRef]
- Priya S, Nampoothiri S, Sen P, Sripriya S. Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64 :620-7. [CrossRef]
- Bahceci M, Dolek D, Tutuncuoglu P, Gorgel A, Oruk G, Yenen I. A case series of Bardet-Biedl syndrome in a large Turkish family and review of the literature. Eat Weight Disord. 2012;17: 66-9.
- Beales PL, Reid HA, Griffiths MH, Maher ER, Flinter FA, Woolf AS. Renal cancer and malformations in relatives of patients with Bardet- Biedl syndrome. Nephrol Dial Transplant 2000;15: 1977-85.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Haziran 2019 |
| Yayımlandığı Sayı | Yıl 2019Sayı: 2 |