Delayed Clinical Diagnosis of Alström Syndrome in a Resource-Limited Setting: A Case Report From Rural Pakistan
Shahab Shahab, Jawad A Khan · 2025
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Description
Shahab and Khan present a case report, published in 2025, on a rare inherited disease diagnosed late in rural Pakistan. The disease damages many systems at once: the eyes, hearing, blood sugar control, the heart, and the kidneys. It is often missed where specialist care and gene testing are scarce. Their patient was a 24-year-old man from the Swat district. By the time he was seen, the disease was far advanced across several organs.
The authors show how the diagnosis rested on clinical signs gathered by a team from several fields. They discuss how distance, cost, and a lack of local specialists each added delay. The case argues that a careful clinical approach can name such diseases even without gene tests. It also calls for better referral paths from rural clinics, so the next patient is caught years earlier.
Catalog record
| CREATOR | Shahab Shahab, Jawad A Khan |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 15 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |