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2009, Number 2

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Rev Med Hosp Gen Mex 2009; 72 (2)

Alström syndrome: Report of Mexican family, multidisciplinary management and review of literature

Mendoza-Caamal EC, Castro-Coyotl DM, Villanueva-Mendoza C, Kofman-Epstein SH, Rivera-Vega MR

Language: Spanish
References: 11
Page: 85-90
PDF size: 107.36 Kb.


ABSTRACT

Alström syndrome (AS) is a rare autosomal recessively inherited disorder which affects multiple organs and systems, the main features are cone–rod retinal dystrophy leading to juvenile blindness, progressive sensorineural hearing loss and obesity. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes and hypertriglyceridemia. Other characteristics such as dilated cardiomyopathy, hepatic and urinary dysfunctions are also commonly observed in patients with this syndrome. Here we report a family with two sibilings affected by Alström syndrome and we analyzed the clinic phenotype and compare them with the literature.


REFERENCES

  1. Hopkinson I, Marshall JD, Paisey RB, Carey C, MacDermott S. Alström syndrome. Available at: http://www. genetests.org. Accessed Feb 2009

  2. Marshall JD, Beck S, Maffe P, Naggert JK. Alström syndrome. Eur J Hum Genet. 2007; 15: 1193–1202.

  3. Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB et al. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005; 165: 675–683.

  4. Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF. Alström syndrome. Report of 22 cases and literature review. Ophthalmology 1998; 105: 1274–1280.

  5. Malm E, Ponjavic V,. Nishina PM, Naggert JK, Hinman E, Marshal JD. Full-Field Electroretinography and Marked Variability in Clinical Phenotype of Alström Syndrome. Arch ophthalmol 2008; 126: 51-57.

  6. Collin GB, Marshall JD, Ikeda A, So VW, Russell-Eggitt I, Maffei P et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet 2002; 31: 74–78.

  7. Minton JA, Owen KR, Ricketts CJ, Crabtree N, Shaikh G, Ehtisham S et al. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alström syndrome. J Clin Endocrinol Metab 2006; 91: 3110–3116.

  8. Maffei P, Boschetti M, Marshall JD, Paisey RB, Beck S, Resmini E et al. Characterization of the IGF system in 15 patients with Alström syndrome. Clin Endocrinol 2007; 66: 269–275.

  9. Michaud JL, Heon E, Guilbert F, Weill J, Puech B, Benson L et al. Natural history of Alström syndrome in early childhood: Onset with dilated cardiomyopathy. J Pediatr 1996; 128 (2): 225-229.

  10. Awazu M, Tanaka T, Sato S, Anzo M, Higuchi M, Yamazaki K et al. Hepatic dysfunction in two sibs with Alström syndrome: case report and review of the literature. Am J Med Genet 1997; 69: 13–16.

  11. Ross AJ, Beales PL. Bardet-Biedl syndrome. Available at: http://www.genetests.org. Accessed Feb 2009




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