| Autor: |
Annapoorna Chakrabarty, Shipra Rai, Kavitha Saravu |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Online Journal of Health & Allied Sciences, Vol 20, Iss 2 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
0972-5997 |
| Popis: |
Wolfram syndrome (DIDMOAD) and Alstrom syndrome are two rare, clinically similar diseases inherited in an autosomal recessive pattern. We report the case of a 19 year old male who presented with left upper abdominal mass and two episodes of high coloured urine. He was a diagnosed case of Wolfram syndrome and exhibited classical features such as juvenile onset diabetes mellitus, vision difficulties and hearing loss. The patient’s new symptoms were irreconcilable with the previous diagnosis and after a thorough workup, the diagnosis was revised to Alstrom syndrome. In this paper, we hope to explore the challenges faced in making a clinical diagnosis of this syndrome in a step by step analysis of the path to rectifying a misdiagnosis. This disease is often not identified due to its rarity, lack of information on the natural history and presentation of the disease and financial constraints of the patient. We also aim to highlight the lack of accessible diagnosis and management infrastructure for people with rare diseases. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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