Alstrom syndrome with subclinical insulin-resistant diabetes and hepatic dysfunction: A family report

Journal of Pediatric Ophthalmology and Strabismus

Volumn 37, Issue 3, 2000, Pages 179-182

  Chou, Ping I ^a   Chen, Chiao Hong ^a   Chen, Jiann Torng ^a   Wen, Liang Yen ^a   Wu, Du An ^a   Feldon, Steven E ^b  

^a TRI SERVICE GENERAL HOSPITAL   (Taiwan)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; DIABETES MELLITUS; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; FEMALE; HUMAN; INSULIN RESISTANCE; LIVER DYSFUNCTION; MALE; OBESITY; PERCEPTION DEAFNESS; RETINA DYSTROPHY; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA PIGMENT DEGENERATION; SCHOOL CHILD; SYNDROME; ACANTHOSIS NIGRICANS; ADULT; CHILD; FAMILY; GENETICS; LIVER DISEASE; NON INSULIN DEPENDENT DIABETES MELLITUS; PEDIGREE; RETINA DEGENERATION;

ACANTHOSIS NIGRICANS; ADULT; CHILD; DIABETES MELLITUS, TYPE 2; FAMILY; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INSULIN RESISTANCE; LIVER DISEASES; MALE; OBESITY; PEDIGREE; RETINAL DEGENERATION; SYNDROME;

EID: 0033625381     PISSN: 01913913     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Alström CH, Hallgren B, Nilsson LB, Äsander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand. 1959;34(suppl 129):1-35.
2. Sebag J, Albert DM, Craft JL. The Alström syndrome: ophthalmic histopathology and retinal ultrastructure. Br J Ophthalmol. 1984;68:494-501.
3. Millay RH, Weleber RG, Heckenlively JR. Ophthalmologic and systemic manifestations of Alström's disease. Am J Ophthalmol. 1986;102:482-490.
4. Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DSI, Taylor JFN. Alström syndrome: report of 22 cases and literature review. Ophthalmology. 1998;105:1274-1280.
5. Dyev DS, Wilson ME, Small KW, Pai GS. Alström syndrome: a case misdiagnosed as Bardet-Biedl syndrome. J Pediatric Ophthalmol Strabismus. 1994;31:272-274.
6. Goldstein JL, Fialkow PJ. The Alström syndrome: report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. Medicine. 1973;52:53-71.
7. Tremblay F, La Roche RG, Shea SE, Ludman MD. Longitudinal study of the early electroretinographic changes in Alström's syndrome. Am J Ophthalmol. 1993;115:657-665.
8. Alter CA, Moshang T Jr. Growth hormone deficiency in two siblings with Alström syndrome. Am J Dis Child. 1993;147:97-99.
9. Charles SJ, Moore AT, Yates JRW, Green T, Clark P. Alström syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction. J Med Genet. 1990;27:590-592.
10. Awazu M, Tanaka T, Sato S, Anzo M, Higuchi M, Yamazaki K, Matsuo N. Hepatic dysfunction in two sibs with Alström syndrome: case report and review of the literature. Am J Med Genet. 1997;69:13-16.
11. Connolly MB, Jan JE, Couch RM, Wong LTK, Dimmick JE, Rigg JM. Hepatic dysfunction in Alström disease. Am J Med Genet. 1991;40:421-424.
12. Marshall JD, Ludman MD, Shea SE, Salisbury SR, Willi SM, LaRoche RG, Nishina PM. Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families. Am J Med Genet. 1997;73:150-161.
13. Ikeda Y, Morita Y, Matsuo Y, Akanuma Y, Itakura H, Yamaji T, Kossaka K. A case of Alström syndrome associated with situs inversus totalis and characteristic liver cirrhosis. J Jpn Soc Intern Med. 1974;63:41-49.
14. Horiuchi N, Sasaki A, Suzuki T, Endo Y, Kiyonaga G. A case of Alström syndrome with cirrhosis of the liver. J Jpn Diab Soc. 1976;19:353-359.
15. Boor R, Herwig J, Schrezenmeir J, Pontz BF, Schönberger W. Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation. Am J Med Genet. 1993;45:649-653.
16. Aynaci FM, Ökten A, Mocan H, Gedik Y, Sarpkaya Aö. A case of Alström syndrome associated with diabetes insipidus. Clin Genet. 1995;48:164-166.
17. Michaud JL, Heon E, Guilbert F, et al. Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr. 1996;128:225-229.