Metabolic syndrome features presenting in early childhood in Alström syndrome: a case report
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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Özgür Pirgon1, Mehmet Emre Atabek, Ilhan Asya Tanju
1Department of Pediatric Endocrinology, GATA Medical Faculty, İstanbul, Turkey. ozpirgon@hotmail.com
Abstract:
Alström syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus. Affected individuals have normal birth weight, but growth deceleration starts at about 8-10 years of age. In patients with the disorder linked to chromosome 2, the increase in body mass index is very high in childhood and continues high thereafter. In this paper, we report a patient who had the proposed diagnostic criteria for Alström syndrome associated with metabolic syndrome starting at age 7, a relatively early age.
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