New Alström syndrome phenotypes based on the evaluation of 182 cases

Jan D. Marshall, Roderick T. Bronson, Gayle B. Collin, Anne D. Nordstrom, Pietro Maffei, Richard B. Paisey, Catherine Carey, Seamus MacDermott, Isabelle Russell-Eggitt, Sarah E. Shea, Judy Davis, Sebastian Beck, Gocha Shatirishvili, Cristina Maria Mihai, Maria Hoeltzenbein, Giovanni Battista Pozzan, Ian Hopkinson, Nicola Sicolo, Jürgen K. Naggert, Patsy M. Nishina

Research output: Contribution to journalReview articlepeer-review

244 Scopus citations


Background: Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing impairment, childhood obesity, insulin resistance, and type 2 diabetes mellitus. We provide new details on cardiologic, hepatic, gastrointestinal, urologic, pulmonary, and neurobehavioral phenotypes in Alström syndrome and describe the histopathologic findings in 5 individuals. Methods: We obtained data on 182 patients from clinical examinations, medical record reviews, standardized questionnaires, and personal interviews with physicians and parents. Results: Dilated cardiomyopathy occurred in 60% of patients. Age at onset was either during infancy, often before vision disturbances were noted, or in adolescence or adulthood. There is a risk of recurrence of infantile cardiomyopathy. Hyperinsulinemia (92%) developed in early childhood and progressed to type 2 diabetes mellitus in 82% of those older than 16 years. Hypertriglyceridemia (54%) precipitated pancreatitis in 8 patients. Urologic dysfunction and gastrointestinal disturbances occurred in 48% and 35% of patients, respectively. Fifty-three percent of patients had persistent pulmonary symptoms. Neurologic symptoms in 20% of patients included clonic tic and absence seizures. Developmental motor or language delays were observed in 46% of patients. Fibrotic infiltrations of multiple organs, that is, kidney, heart, liver, lung, urinary bladder, gonads, and pancreas, were observed. Conclusions: The wide-ranging and complex spectrum of phenotypes reported herein broadens those previously described for Alström syndrome. These findings will aid physicians in making an early and accurate diagnosis and will help effect appropriate monitoring and treatment.

Original languageEnglish
Pages (from-to)675-683
Number of pages9
JournalArchives of Internal Medicine
Issue number6
StatePublished - Mar 2005
Externally publishedYes


Dive into the research topics of 'New Alström syndrome phenotypes based on the evaluation of 182 cases'. Together they form a unique fingerprint.

Cite this