Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss

TL;DR

This paper presents a case of a Saudi woman diagnosed with Alström syndrome, a rare genetic disorder, highlighting her symptoms and genetic findings.

Contribution

The study reports a novel homozygous pathogenic variant in the ALMS1 gene in a Saudi patient, contributing to understanding of the syndrome's genetic diversity.

Findings

The patient was found to have a homozygous pathogenic variant in the ALMS1 gene.

The case highlights the importance of genetic testing in diagnosing Alström syndrome.

No other clinically significant genetic variations were identified in the patient.

Abstract

Alström syndrome is a genetic disease that impacts numerous systems in the human body. The symptoms can vary and appear gradually. Childhood obesity, heart disease (cardiomyopathy), abnormalities in vision, and hearing issues are the main symptoms of this disorder in children. Diabetes mellitus, hepatic issues, and renal dysfunction can all occur over time. Genetic alterations in the ALMS1 gene are the cause of Alström syndrome. It has an autosomal recessive inheritance pattern. We address the case of a Saudi woman in her 20s. She had been initially referred for type 2 diabetes, intellectual disability since early childhood, metabolic acidosis, and micrognathia; however, she also exhibited blindness, chronic kidney disease (CKD), and hearing loss, all of which are indicative of Alström syndrome. DNA testing showed that she has a homozygous pathogenic variant in the ALMS gene. Autosomal recessive Alström syndrome has been confirmed as a genetic diagnosis. No other clinically significant variations were found that are associated with the mentioned phenotype. By reporting this mutation, we hope to learn more about the genotypic range of the disease, particularly in the Saudi population. As each member of the family underwent genetic testing, we established a stringent follow-up schedule for our patient and her family.

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