Wolfram syndrome: A rare case report
We present an autopsy case of a 19 year old male admitted for breathlessness and oliguria. He was diabetic since 7 years of age and was on insulin. Patient was on testosterone and anti hypertensives. He was diagnosed of hypocontractile bladder and congenital bilateral megaureter with vesico-ureteric...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2019-01-01
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| Series: | Indian Journal of Pathology and Microbiology |
| Subjects: | |
| Online Access: | http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2019;volume=62;issue=3;spage=477;epage=480;aulast=Padmanabhan |
| _version_ | 1818318960869769216 |
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| author | Anitha Padmanabhan Aditi Parihar Urmi S C. Vartak Nitin M Gadgil |
| author_facet | Anitha Padmanabhan Aditi Parihar Urmi S C. Vartak Nitin M Gadgil |
| author_sort | Anitha Padmanabhan |
| collection | DOAJ |
| description | We present an autopsy case of a 19 year old male admitted for breathlessness and oliguria. He was diabetic since 7 years of age and was on insulin. Patient was on testosterone and anti hypertensives. He was diagnosed of hypocontractile bladder and congenital bilateral megaureter with vesico-ureteric reflux 2 years back. History of hemiparesis 2 years back. CT scan of the brain showed a right fronto- parietal healed infarct. At autopsy, bilateral kidneys showed coarse granularity and scarring. Pelvicalyceal system and both ureters were dilated. A right sided intrabdominal testes was identified. On histology, kidney showed features of diabetic nephropathy and pancreas showed decreased number of islet cells. Correlating the clinical, laboratory and autopsy parameters, our case satisfies the EURO-WABB criteria (1major+2minor) for diagnosis of Wolfram Syndrome, even though genetic confirmation could not be done.[1],[2] |
| first_indexed | 2024-12-13T10:01:31Z |
| format | Article |
| id | doaj.art-c02a2228f28c4367b7a8308d28fb991d |
| institution | Directory Open Access Journal |
| issn | 0377-4929 |
| language | English |
| last_indexed | 2024-12-13T10:01:31Z |
| publishDate | 2019-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Pathology and Microbiology |
| spelling | doaj.art-c02a2228f28c4367b7a8308d28fb991d2022-12-21T23:51:39ZengWolters Kluwer Medknow PublicationsIndian Journal of Pathology and Microbiology0377-49292019-01-0162347748010.4103/IJPM.IJPM_397_18Wolfram syndrome: A rare case reportAnitha PadmanabhanAditi PariharUrmi S C. VartakNitin M GadgilWe present an autopsy case of a 19 year old male admitted for breathlessness and oliguria. He was diabetic since 7 years of age and was on insulin. Patient was on testosterone and anti hypertensives. He was diagnosed of hypocontractile bladder and congenital bilateral megaureter with vesico-ureteric reflux 2 years back. History of hemiparesis 2 years back. CT scan of the brain showed a right fronto- parietal healed infarct. At autopsy, bilateral kidneys showed coarse granularity and scarring. Pelvicalyceal system and both ureters were dilated. A right sided intrabdominal testes was identified. On histology, kidney showed features of diabetic nephropathy and pancreas showed decreased number of islet cells. Correlating the clinical, laboratory and autopsy parameters, our case satisfies the EURO-WABB criteria (1major+2minor) for diagnosis of Wolfram Syndrome, even though genetic confirmation could not be done.[1],[2]http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2019;volume=62;issue=3;spage=477;epage=480;aulast=PadmanabhanAutopsyDIDMOADWolfram syndrome |
| spellingShingle | Anitha Padmanabhan Aditi Parihar Urmi S C. Vartak Nitin M Gadgil Wolfram syndrome: A rare case report Indian Journal of Pathology and Microbiology Autopsy DIDMOAD Wolfram syndrome |
| title | Wolfram syndrome: A rare case report |
| title_full | Wolfram syndrome: A rare case report |
| title_fullStr | Wolfram syndrome: A rare case report |
| title_full_unstemmed | Wolfram syndrome: A rare case report |
| title_short | Wolfram syndrome: A rare case report |
| title_sort | wolfram syndrome a rare case report |
| topic | Autopsy DIDMOAD Wolfram syndrome |
| url | http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2019;volume=62;issue=3;spage=477;epage=480;aulast=Padmanabhan |
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