A rare case of ataxia telangiectasia with intracranial tumor
Ataxia telangiectasia is a rare autosomal recessive multisystem disorder results in neurodegeneration, variable immunological abnormality that leads to recurrent sinopulmonary infection, febrile episodes, progressive cerebellar ataxia, ocular, and cutaneous telangiectasias. We report a case of 3-yea...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2014-01-01
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| Series: | CHRISMED Journal of Health and Research |
| Subjects: | |
| Online Access: | http://www.cjhr.org/article.asp?issn=2348-3334;year=2014;volume=1;issue=2;spage=107;epage=109;aulast=Chatterjee |
| _version_ | 1818948862751014912 |
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| author | Gangadhar M Chatterjee Rittu S Chandel Pallavi J Kamble |
| author_facet | Gangadhar M Chatterjee Rittu S Chandel Pallavi J Kamble |
| author_sort | Gangadhar M Chatterjee |
| collection | DOAJ |
| description | Ataxia telangiectasia is a rare autosomal recessive multisystem disorder results in neurodegeneration, variable immunological abnormality that leads to recurrent sinopulmonary infection, febrile episodes, progressive cerebellar ataxia, ocular, and cutaneous telangiectasias. We report a case of 3-year-old Indian boy with recurrent episodes of fever and sinopulmonary infection and repeated hospitalization, rapidly progressive neurological symptoms. On clinical examination no ophthalmological or dermatological lesion was detected. On laboratory and immunological investigation polymorphonuclear leukocytosis with mild normocytic hypochromic anemia, IgA level of 39 mg/dl, alphafetoprotein level of 35 IU/L and normal interictal EEG was noted. Nerve conduction studies (NCS) was suggestive of wide spread early demyelinating polyradiculopathy. MRI shows a suprasellar tumor. The patient was diagnosed to be Ataxia telangiectasia (AT) according to diagnostic criteria of Ataxia-Telangiectasia Clinical Center. Patient was treated with pulse methyl prednisolone and IVIG. Further CD4/CD8 count, IgG subfraction estimation, leucocyte phagocytic activity and mutation analysis of ATM gene should be done to confirm the diagnosis. |
| first_indexed | 2024-12-20T08:53:33Z |
| format | Article |
| id | doaj.art-bfb5eabf7d3a406f82acb6ca7823a635 |
| institution | Directory Open Access Journal |
| issn | 2348-3334 2348-506X |
| language | English |
| last_indexed | 2024-12-20T08:53:33Z |
| publishDate | 2014-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | CHRISMED Journal of Health and Research |
| spelling | doaj.art-bfb5eabf7d3a406f82acb6ca7823a6352022-12-21T19:46:05ZengWolters Kluwer Medknow PublicationsCHRISMED Journal of Health and Research2348-33342348-506X2014-01-011210710910.4103/2348-3334.134274A rare case of ataxia telangiectasia with intracranial tumorGangadhar M ChatterjeeRittu S ChandelPallavi J KambleAtaxia telangiectasia is a rare autosomal recessive multisystem disorder results in neurodegeneration, variable immunological abnormality that leads to recurrent sinopulmonary infection, febrile episodes, progressive cerebellar ataxia, ocular, and cutaneous telangiectasias. We report a case of 3-year-old Indian boy with recurrent episodes of fever and sinopulmonary infection and repeated hospitalization, rapidly progressive neurological symptoms. On clinical examination no ophthalmological or dermatological lesion was detected. On laboratory and immunological investigation polymorphonuclear leukocytosis with mild normocytic hypochromic anemia, IgA level of 39 mg/dl, alphafetoprotein level of 35 IU/L and normal interictal EEG was noted. Nerve conduction studies (NCS) was suggestive of wide spread early demyelinating polyradiculopathy. MRI shows a suprasellar tumor. The patient was diagnosed to be Ataxia telangiectasia (AT) according to diagnostic criteria of Ataxia-Telangiectasia Clinical Center. Patient was treated with pulse methyl prednisolone and IVIG. Further CD4/CD8 count, IgG subfraction estimation, leucocyte phagocytic activity and mutation analysis of ATM gene should be done to confirm the diagnosis.http://www.cjhr.org/article.asp?issn=2348-3334;year=2014;volume=1;issue=2;spage=107;epage=109;aulast=ChatterjeeAlphafetoproteinataxia telangiectasiacerebellar ataxiasuprasellar tumor |
| spellingShingle | Gangadhar M Chatterjee Rittu S Chandel Pallavi J Kamble A rare case of ataxia telangiectasia with intracranial tumor CHRISMED Journal of Health and Research Alphafetoprotein ataxia telangiectasia cerebellar ataxia suprasellar tumor |
| title | A rare case of ataxia telangiectasia with intracranial tumor |
| title_full | A rare case of ataxia telangiectasia with intracranial tumor |
| title_fullStr | A rare case of ataxia telangiectasia with intracranial tumor |
| title_full_unstemmed | A rare case of ataxia telangiectasia with intracranial tumor |
| title_short | A rare case of ataxia telangiectasia with intracranial tumor |
| title_sort | rare case of ataxia telangiectasia with intracranial tumor |
| topic | Alphafetoprotein ataxia telangiectasia cerebellar ataxia suprasellar tumor |
| url | http://www.cjhr.org/article.asp?issn=2348-3334;year=2014;volume=1;issue=2;spage=107;epage=109;aulast=Chatterjee |
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