Abstract
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Keywords
References
- Hung YJ, Jeng C, Pei D, Chou PI, Wu DA. Alstrom syndrome in two siblings. J Formos Med Assoc 2001;100:45-9
- Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N. The Alstrom syndrome: is it a rare or unknown disease? Ann Ital Med Int 2002;17:221-8
- Makaryus AN, Popowski B, Kort Y, Mangion J. A rare case of Alstrome presenting with rapidly progressive severe dilated cardiomyopathy diagnosed by echocardiography. J Am Soc Echocardiogr 2003;16:194-6
- Koray F, Dorter C, Benderli Y et al. Alstrom syndrome: a case report. J Oral Sci 2001;43:221-4
- Russel- Eggitt IM, Clayton PT, Cofey R, et al. Alström syndrome. Ophthalmology 1998;105:1274-79
- Connoly MB, Jan JE, Couch RM, Wong LT, Dimmick JE, Rigg JM. Hepatic dysfunction in Alstrom disease. Am J Med Genet 1991;15;40:421-4
- Awazu M, Tanaka T, Sato S et al. sibs with Alstrom syndrome: case report and review of the literature. Am J Med Gen 1997;69:13-6 in two
- Ruben EQT, Jorge V, Marvin EA. Early- onset liver disease complicated with acute liver failure in Alstrom Syndrome. Am J Med Gen 2001;101:9-11
- Satman I, Yılmaz MT, Gürsoy N et al. Evaluation of insulin resistant diabetes mellitus in Alström syndrome: a long- term prospective follow-up of three siblings. Diabetes Res Clin Pract 2002; 56:189-96 Yılmaz et al.
Abstract
Alström syndrome (AS) is a rare autosomal recessive disorder, characterized by retinal degeneration, progressive hearing impairment, truncal obesity and non-insulin dependent diabetes mellitus. A 6-year-old girl was admitted with aphasia, deafness, strabismus, abdominal distention, and weakness on the right body side. The physical and laboratory examination revealed psychomotor retardation, right hemiparesis, sensorioneural hearing loss, aphasia, eye and teeth abnormalities, hyperpigmentation, truncal obesity, hepatosplenomegaly, severe iron deficiency anemia, delayed bone age, and cerebral hemiatrophy. Based on these abnormal findings she was diagnosed as AS. According to our knowledge this is the first case of AS with cerebral involvement. This last finding may be a component of the syndrome. Key words: Alström syndrome; brain involvement, case report
Keywords
References
- Hung YJ, Jeng C, Pei D, Chou PI, Wu DA. Alstrom syndrome in two siblings. J Formos Med Assoc 2001;100:45-9
- Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N. The Alstrom syndrome: is it a rare or unknown disease? Ann Ital Med Int 2002;17:221-8
- Makaryus AN, Popowski B, Kort Y, Mangion J. A rare case of Alstrome presenting with rapidly progressive severe dilated cardiomyopathy diagnosed by echocardiography. J Am Soc Echocardiogr 2003;16:194-6
- Koray F, Dorter C, Benderli Y et al. Alstrom syndrome: a case report. J Oral Sci 2001;43:221-4
- Russel- Eggitt IM, Clayton PT, Cofey R, et al. Alström syndrome. Ophthalmology 1998;105:1274-79
- Connoly MB, Jan JE, Couch RM, Wong LT, Dimmick JE, Rigg JM. Hepatic dysfunction in Alstrom disease. Am J Med Genet 1991;15;40:421-4
- Awazu M, Tanaka T, Sato S et al. sibs with Alstrom syndrome: case report and review of the literature. Am J Med Gen 1997;69:13-6 in two
- Ruben EQT, Jorge V, Marvin EA. Early- onset liver disease complicated with acute liver failure in Alstrom Syndrome. Am J Med Gen 2001;101:9-11
- Satman I, Yılmaz MT, Gürsoy N et al. Evaluation of insulin resistant diabetes mellitus in Alström syndrome: a long- term prospective follow-up of three siblings. Diabetes Res Clin Pract 2002; 56:189-96 Yılmaz et al.
Details
| Primary Language | English |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | March 1, 2006 |
| Published in Issue | Year 2006 Volume: 3 Issue: 1 |