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

## TL;DR

A 24-year-old man in rural Pakistan was diagnosed with Alström syndrome after experiencing delayed care due to limited resources and geographic isolation.

## Contribution

The paper presents a case highlighting diagnostic challenges of Alström syndrome in resource-limited settings and the impact of social determinants on health outcomes.

## Key findings

- Alström syndrome was diagnosed in a 24-year-old male with advanced multisystem symptoms in rural Pakistan.
- Delayed diagnosis was attributed to geographic isolation and lack of specialist care.
- The case emphasizes the role of socioeconomic factors in health outcomes for rare diseases.

## Abstract

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.