TY  - JOUR
T1  - ALSTRÖM SYNDROME ASSOCIATED WITH CEREBRAL INVOLVEMENT: AN UNUSUAL PRESENTATION
TT  - ALSTRÖM SYNDROME ASSOCIATED WITH CEREBRAL INVOLVEMENT: AN UNUSUAL PRESENTATION
AU  - Yılmaz, Cahide
AU  - Çaksen, Hüseyin
AU  - Yılmaz, Nebi
AU  - Güven, Ahmet Sami
AU  - Arslan, Derya
AU  - Cesur, Yaşar
PY  - 2006
DA  - March
JF  - European Journal of General Medicine
PB  - Sağlık Bilimleri Araştırmaları Derneği
WT  - DergiPark
SN  - 1304-3889
VL  - 3
IS  - 1
LA  - en
AB  - 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
KW  - Alström syndrome
KW  - brain involvement
KW  - case report
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UR  - https://dergipark.org.tr/en/pub/ejgm/issue//72145
L1  - https://dergipark.org.tr/en/download/article-file/61806
ER  -