Case Report

A Rare Syndromic Report of a Young Patient with Type 2 Diabetes Mellitus: Alstrom Syndrome

Abstract

Alström syndrome is a rare multi-system congenital disorder with varied phenotypic presentations, including obesity, early-onset blindness, hearing loss, and various cardiac and renal manifestations. We discuss a case of a young male who presented with Type 2 Diabetes Mellitus (T2DM) and dyslipidemia, with a history of lindness
and hearing loss since childhood. His family history was significant, with three prior sibling deaths. Genetic evaluation confirmed the diagnosis of Alström syndrome. He did not have obesity or any cardiovascular complications. The rest of the systemic examination and blood work were normal. This case is noteworthy as it represents one of the few variants of Alström syndrome without obesity. Early diagnosis and management are crucial for these patients to prevent avoidable complications and improve their quality of life.

[1] Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet. 2007 Dec;15(12):1193–202. https://doi.org/10.1038/sj.ejhg.5201933
[2] Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, et al. Consensus clinical management guidelines for Alström syndrome. Orphanet J Rare Dis 15, 253 (2020). https://doi.org/10.1186/s13023-020-01468-8
[3] MS R, Rajan MG, Puneeth A, Soundarya M. Alstrom syndrome—a diagnostic dilemma. Int J Diabetes Dev Ctries.
2017 Mar;37:88-91. https://doi.org/10.1007/s13410-016-0520-7
[4] Koç E, Bayrak G, Suher M, Ensari C, Aktas D, Ensari A. Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. Nephrology (Carlton). 2006 Apr;11(2):81-4. https://doi.org/10.1111/j.1440-1797.2006.00443.x
Files
IssueVol 9 No 6 (2024): November-December QRcode
SectionCase Report(s)
DOI https://doi.org/10.18502/crcp.v9i6.18944
Keywords
Alström syndrome Diabetes in adolescents Alstrom syndrome Normal BMI

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How to Cite
1.
Suran A, Khare J. A Rare Syndromic Report of a Young Patient with Type 2 Diabetes Mellitus: Alstrom Syndrome. CRCP. 2025;9(6):253-256.