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European Journal of General Medicine
Medical Investigations Society
ISSN: 1304-3897
Vol. 3, No. 1, 2006, pp. 32-34
Bioline Code: gm06007
Full paper language: English
Document type: Research Article
Document available free of charge

European Journal of General Medicine, Vol. 3, No. 1, 2006, pp. 32-34

 en ALSTRÖM SYNDROME ASSOCIATED WITH CEREBRAL INVOLVEMENT: AN UNUSUAL PRESENTATION
Cahide Yilmaz, Hüseyin Çaksen , Nebi Yilmaz , Ahmet Sami Güven

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.

Keywords
Alström syndrome; brain involvement, case report

 
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