Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2024 May 15;16(5):e60396.
doi: 10.7759/cureus.60396. eCollection 2024 May.

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

Abdulrahman S Alamri  1 , Hatim A Mahmoud  1 , Abdulaziz A Abu Alnasr  2 , Alaa K Alahmadi  2 , Yousef H Qari  3
Affiliations
Case Reports

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

Abdulrahman S Alamri et al. Cureus. .

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.

Keywords: alms1; alström syndrome; chronic kidney disease; double diabetes; saudi.

PubMed Disclaimer

Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Abdominal ultrasound showing unremarkable gallbladder, no evidence of cholecystitis.
Mild diffuse hepatic steatosis
Figure 2
Figure 2. Renal ultrasound showing mild left renal hydronephrosis.
Otherwise, unremarkable scan.
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. A review of Alström syndrome: A rare monogenic ciliopathy. Choudhury AR, Munonye I, Sanu KP, Islam N, Gadaga C. Intractable Rare Dis Res. 2021;10:257–262. - PMC - PubMed
    1. Alström syndrome: current perspectives. Álvarez-Satta M, Castro-Sánchez S, Valverde D. Appl Clin Genet. 2015;8:171–179. - PMC - PubMed
    1. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: A specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: A clinical, endocrinological and genetic examination based on a large pedigree. Alstrom CH, Hallgren B, Nilsson LB, Asander H. https://pubmed.ncbi.nlm.nih.gov/13649370/ Acta Psychiatr Neurol Scand Suppl. 1959;129:1–35. - PubMed
    1. INSERM. Orphanet: An online rare disease and orphan drug data base. [ Jan; 2024 ]. 2019. https://www.orpha.net/en/disease/detail/64?name=Alstr%C3%B6m+Syndrome&mo... https://www.orpha.net/en/disease/detail/64?name=Alstr%C3%B6m+Syndrome&mo...
    1. Consensus clinical management guidelines for Alström syndrome. Tahani N, Maffei P, Dollfus H, et al. Orphanet J Rare Dis. 2020;15:253. - PMC - PubMed

Publication types

LinkOut - more resources