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Alström's syndrome

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A syndrome similar to (Laurence-Moon-)Biedl-Bardet that manifests with obesity in childhood, nerve deafness and retinal degeneration (atypical retinitis pigmentosa). Blindness usually occurs by age 7 years. Primary hypogonadism in males, and juvenile diabetes mellitus. Acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis may be associated. Metabolic findings include hyperuricaemia and elevated serum triglycerides and pre-ß-lipoproteins. Mental capacity is normal. Inheritance is autosomal recessive. Only 104 children and adults (by 2001) world-wide are known to have this extremely rare condition. Most cases are in developed countries such as Canada, the United States of America and the United Kingdom, the latter having the largest group of diagnosed patients.

In 1946, at the Serafimerlasarettet Hospital, Alström saw a 14 year old boy who appeared to have symptoms similar to the Laurence-Moon-Bardet-Biedl Syndrome, yet this patient's condition was different in several important ways. The child had retinal degeneration and obesity bearing a similarity to LMBBS, but also exhibited neurological hearing impairment and normal mental development. When Alström moved to the Karolinska Institute, he undertook further investigations, revealing that that the young man had two second cousins, a boy and a girl about ten years older, with similar but more pronounced features. These three were described by Alström and his co-authors in 1959. The conjoined eponym Alström-Hallgren syndrome was used for some time, but the condition was eventually designated simply Alström Syndrome.


  • C. H. Alström, B. Hallgren, L. B. Nilsson, H. Asander:
    Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafnes. A specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree.
    Acta Psychiatrica et Neurologica Scandinavica, Copenhagen, 1959, 34 (supplement 129): 1-35.

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