Cahide Yılmaz, Hüseyin Çaksen, Nebi Yılmaz, Ahmet Sami Güven, Derya Arslan, Yaşar Cesur

ALSTRÖM SYNDROME ASSOCIATED WITH CEREBRAL INVOLVEMENT: AN UNUSUAL PRESENTATION

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ALSTRÖM SYNDROME ASSOCIATED WITH CEREBRAL INVOLVEMENT: AN UNUSUAL PRESENTATION

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:

Alström syndrome, brain involvement case report,

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