ALSTRÖM SYNDROME ASSOCIATED WITH CEREBRAL INVOLVEMENT: AN UNUSUAL PRESENTATION
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Cahide Yılmaz 1 * , Hüseyin Çaksen 1, Nebi Yılmaz 2, Ahmet Sami Güven 1, Derya Arslan 1, Yaşar Cesur 3
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1 Yüzüncü Yıl University, Faculty of Medicine, Department of Pediatric Neurology, Van, Turkey2 Yüzüncü Yıl University, Faculty of Medicine, Department of Neurosurgery, Van, Turkey3 Yüzüncü Yıl University, Faculty of Medicine, Department of Pediatric Endocrinology, Van, Turkey* Corresponding Author

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.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

EUR J GEN MED, 2006, Volume 3, Issue 1, 32-34

https://doi.org/10.29333/ejgm/82358

Publication date: 15 Jan 2006

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