Alström Syndrom: A Clinical Case

Abstract

Background. Alström syndrome is a rare autosomal recessive disease characterized by multiple organ dysfunction. The prevalence in the population is less than one person per 1 million. Genomic mutation analysis study identified 109 new mutations increasing the number of known mutations of the ALMS1 protein to 239 which highlights the allelic heterogeneity of this disease and its phenotypic diversity.The aim of the work. Increasing awareness among medical professionals regarding Alström syndrome.Materials and methods. The analysis of the medical record of an outpatient patient, data from paraclinical research methods of the child of patient P., born in 2013, who was examined at the Children’s Regional Clinical Hospital (CRCH; Krasnodar).Results. The disease debuted with an acute respiratory infection at the age of 4 months, the primary clinical manifestations were acute respiratory failure, and therefore, the child was hospitalized at CRCH. The results of additional research methods revealed dilated cardiomyopathy with reduced global contractility of the left ventricle. For further disease diagnosis and treatment correction, the child was referred to the National Medical Research Center for Children’s Health (NMRCCH), where he was observed for several years by a multidisciplinary team of specialists. Based on results of molecular genetic studies (pathogenic homozygous mutation in the ALMS1 gene), the child was diagnosed with Alström syndrome at the age of 8 years.Discussion. This report illustrates difficulty diagnosis and lack of specific treatment.Conclusion. This clinical case demonstrates a wide range of phenotypic features of the rare hereditary Alström syndrome.