Wolfram to Alstrom: Analysis of a Diagnostic Error
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 syn...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Light House Polyclinic Mangalore
2021-08-01
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| Series: | Online Journal of Health & Allied Sciences |
| Subjects: | |
| Online Access: | https://www.ojhas.org/issue78/2021-2-8.html |
| _version_ | 1818978535191085056 |
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| author | Annapoorna Chakrabarty Shipra Rai Kavitha Saravu |
| author_facet | Annapoorna Chakrabarty Shipra Rai Kavitha Saravu |
| author_sort | Annapoorna Chakrabarty |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-20T16:45:11Z |
| format | Article |
| id | doaj.art-b034ac536d4c48268786bec0269c816f |
| institution | Directory Open Access Journal |
| issn | 0972-5997 |
| language | English |
| last_indexed | 2024-12-20T16:45:11Z |
| publishDate | 2021-08-01 |
| publisher | Light House Polyclinic Mangalore |
| record_format | Article |
| series | Online Journal of Health & Allied Sciences |
| spelling | doaj.art-b034ac536d4c48268786bec0269c816f2022-12-21T19:32:57ZengLight House Polyclinic MangaloreOnline Journal of Health & Allied Sciences0972-59972021-08-01202Wolfram to Alstrom: Analysis of a Diagnostic ErrorAnnapoorna Chakrabarty0Shipra Rai1Kavitha Saravu2Intern, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, IndiaSpecialist Physician, Prime Medical Centre, Al Qasimia, Sharjah, UAEHead of the Department of Infectious Diseases, Kasturba Hospital, Manipal, IndiaWolfram 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.https://www.ojhas.org/issue78/2021-2-8.htmlwolfram syndromealstrom syndromedidmoaddiabetes mellitus |
| spellingShingle | Annapoorna Chakrabarty Shipra Rai Kavitha Saravu Wolfram to Alstrom: Analysis of a Diagnostic Error Online Journal of Health & Allied Sciences wolfram syndrome alstrom syndrome didmoad diabetes mellitus |
| title | Wolfram to Alstrom: Analysis of a Diagnostic Error |
| title_full | Wolfram to Alstrom: Analysis of a Diagnostic Error |
| title_fullStr | Wolfram to Alstrom: Analysis of a Diagnostic Error |
| title_full_unstemmed | Wolfram to Alstrom: Analysis of a Diagnostic Error |
| title_short | Wolfram to Alstrom: Analysis of a Diagnostic Error |
| title_sort | wolfram to alstrom analysis of a diagnostic error |
| topic | wolfram syndrome alstrom syndrome didmoad diabetes mellitus |
| url | https://www.ojhas.org/issue78/2021-2-8.html |
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