AACE Endocrinol Diabetes. 2025 Jul 3;12(3):143-145. doi: 10.1016/j.aed.2025.06.008. eCollection 2025 Sep-Oct.
ABSTRACT
BACKGROUND: Wolfram-like syndrome is an autosomal dominant disorder related to classical autosomal recessive Wolfram syndrome. It is characterized by diabetes mellitus, optic atrophy, and sensorineural hearing loss, but typically presents with milder or incomplete features. These atypical and late-onset forms pose a diagnostic challenge.
CASE REPORT: A 58-year-old male presented with progressive bilateral visual loss, hearing loss, and a history of diabetes mellitus. Optical coherence tomography revealed bilateral optic atrophy, and genetic testing identified a heterozygous pathogenic variant, NM_006005.3:c.409_424dup (p.Val137Glyfs∗110), in the WFS1 gene, confirming the diagnosis of Wolfram-like syndrome.
DISCUSSION: This case highlights the variability in clinical presentation of Wolfram-like syndrome, including unusually late symptom onset. It also emphasizes the role of genetic modifiers and the importance of distinguishing this condition from classical Wolfram syndrome, particularly in adult-onset cases.
CONCLUSION: Early recognition of Wolfram-like syndrome in atypical presentations is critical for appropriate management and patient counseling. The objective of this report is to describe a case of Wolfram-like syndrome with unusually late onset, underline its distinguishing features, and raise awareness of this under-recognized disorder.
PMID:41048689 | PMC:PMC12495591 | DOI:10.1016/j.aed.2025.06.008