Delayed Clinical Diagnosis of Alström Syndrome in a Resource-Limited Setting: A Case Report From Rural Pakistan

Alström syndrome is a rare autosomal recessive ciliopathy characterized by progressive multisystem involvement, including retinal degeneration, sensorineural hearing loss, insulin resistance, cardiomyopathy, and chronic kidney disease. Diagnosis is often delayed in regions with limited access to specialized care or genetic testing. We report a case of a 24-year-old male from rural Swat, Khyber Pakhtunkhwa, Pakistan, presenting with advanced multisystem manifestations consistent with Alström syndrome. This case highlights the diagnostic challenges in resource-limited settings and the importance of a multidisciplinary clinical approach. It also underscores the influence of social determinants of health, such as geographic isolation, limited availability of specialist care, and socioeconomic constraints on delayed recognition and progression of cardiometabolic and renal complications.