Alström syndrome—wide clinical variability within the same variant: a case report and literature review

Alström disease is a rare disorder caused by various variants in the ALMS1 gene. It is characterised by multiorgan involvement, namely neurosensory deficits, endocrine and metabolic disturbances, cardiomyopathy, and hepatic and renal dysfunction. The disease exhibits marked interindividual variability, both in clinical manifestations and age of onset. Several attempts have been made to establish a relationship between phenotype and genotype, with little success.