A patient with features of both Bardet-Biedl and Alström syndromes

We describe a 30-year-old patient with acanthosis nigricans, diabetes mellitus with insulin resistance, hypogonadotropic hypogonadism, pigmentary degeneration of the retina and cerebellar, pyramidal and posterior columnar involvement. He had normal mental function, normal hearing and no hexadactyly....

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Bibliographic Details
Published in:European journal of pediatrics 1990-08, Vol.149 (11), p.783-785
Main Authors: Hauser, C, Rojas, C, Roth, A, Schmied, E, Saurat, J H
Format: Article
Language:English
Subjects:
Acanthosis Nigricans - complications
Adult
Diabetes Mellitus, Type 1 - complications
Humans
Laurence-Moon Syndrome - complications
Male
Syndrome
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Summary:We describe a 30-year-old patient with acanthosis nigricans, diabetes mellitus with insulin resistance, hypogonadotropic hypogonadism, pigmentary degeneration of the retina and cerebellar, pyramidal and posterior columnar involvement. He had normal mental function, normal hearing and no hexadactyly. The patient had symptoms of both Bardet-Biedl and Alström syndromes, but did not manifest all the main features of either syndrome. This suggests either that the Bardet-Biedl, Alström, Laurence-Moon syndromes (including the variant described by Edwards) have a highly variable expression or that our case is a new variant within this group of syndromes.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF01957281