Unraveling the mystery: Exploring a case of prolonged fever and hidden genetics: Case report
This case report highlights an unusual presentation of transcobalamin 2 (TCN2) deficiency. It is a rare autosomal recessive disorder. In this case, we present a three-month-old child with prolonged fever and pancytopenia. Initial investigations could not reach a diagnosis. Subsequent investigations...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-05-01
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| Series: | Journal of Family Medicine and Primary Care |
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| Online Access: | https://journals.lww.com/10.4103/jfmpc.jfmpc_1839_24 |
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| author | Syed Furrukh Jamil Kawther Ibrahim Alhawsawi Shahad Mohammed Alrefaei |
| author_facet | Syed Furrukh Jamil Kawther Ibrahim Alhawsawi Shahad Mohammed Alrefaei |
| author_sort | Syed Furrukh Jamil |
| collection | DOAJ |
| description | This case report highlights an unusual presentation of transcobalamin 2 (TCN2) deficiency. It is a rare autosomal recessive disorder. In this case, we present a three-month-old child with prolonged fever and pancytopenia. Initial investigations could not reach a diagnosis. Subsequent investigations revealed normal serum vitamin B12 levels and elevated homocysteine levels, suggesting a vitamin B12 metabolic disorder. Genetic testing confirmed the presence of pathogenic variations in the transcobalamin 2 gene that led to establishing the diagnosis of transcobalamin 2 deficiency. The initiation of vitamin B12 supplementation led to the resolution of the patient’s symptoms and the normalization of hematological parameters. Recognizing transcobalamin 2 deficiency as a possible cause of prolonged fever and low blood cell counts (pancytopenia) led to further specialized testing and genetic analysis. Considering this rare condition as a potential diagnosis, even when vitamin B12 levels appear normal is crucial. Comprehensive lab tests and genetic testing are essential to correctly identify these uncommon yet treatable disorders and guide appropriate treatment. |
| format | Article |
| id | doaj-art-ed33d68f0cf34f5fba66f6bc84443d2e |
| institution | OA Journals |
| issn | 2249-4863 2278-7135 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Family Medicine and Primary Care |
| spelling | doaj-art-ed33d68f0cf34f5fba66f6bc84443d2e2025-08-20T02:34:46ZengWolters Kluwer Medknow PublicationsJournal of Family Medicine and Primary Care2249-48632278-71352025-05-011452065206910.4103/jfmpc.jfmpc_1839_24Unraveling the mystery: Exploring a case of prolonged fever and hidden genetics: Case reportSyed Furrukh JamilKawther Ibrahim AlhawsawiShahad Mohammed AlrefaeiThis case report highlights an unusual presentation of transcobalamin 2 (TCN2) deficiency. It is a rare autosomal recessive disorder. In this case, we present a three-month-old child with prolonged fever and pancytopenia. Initial investigations could not reach a diagnosis. Subsequent investigations revealed normal serum vitamin B12 levels and elevated homocysteine levels, suggesting a vitamin B12 metabolic disorder. Genetic testing confirmed the presence of pathogenic variations in the transcobalamin 2 gene that led to establishing the diagnosis of transcobalamin 2 deficiency. The initiation of vitamin B12 supplementation led to the resolution of the patient’s symptoms and the normalization of hematological parameters. Recognizing transcobalamin 2 deficiency as a possible cause of prolonged fever and low blood cell counts (pancytopenia) led to further specialized testing and genetic analysis. Considering this rare condition as a potential diagnosis, even when vitamin B12 levels appear normal is crucial. Comprehensive lab tests and genetic testing are essential to correctly identify these uncommon yet treatable disorders and guide appropriate treatment.https://journals.lww.com/10.4103/jfmpc.jfmpc_1839_24cobalamin ii deficiencygenetic disorderpancytopeniaprolonged fever |
| spellingShingle | Syed Furrukh Jamil Kawther Ibrahim Alhawsawi Shahad Mohammed Alrefaei Unraveling the mystery: Exploring a case of prolonged fever and hidden genetics: Case report Journal of Family Medicine and Primary Care cobalamin ii deficiency genetic disorder pancytopenia prolonged fever |
| title | Unraveling the mystery: Exploring a case of prolonged fever and hidden genetics: Case report |
| title_full | Unraveling the mystery: Exploring a case of prolonged fever and hidden genetics: Case report |
| title_fullStr | Unraveling the mystery: Exploring a case of prolonged fever and hidden genetics: Case report |
| title_full_unstemmed | Unraveling the mystery: Exploring a case of prolonged fever and hidden genetics: Case report |
| title_short | Unraveling the mystery: Exploring a case of prolonged fever and hidden genetics: Case report |
| title_sort | unraveling the mystery exploring a case of prolonged fever and hidden genetics case report |
| topic | cobalamin ii deficiency genetic disorder pancytopenia prolonged fever |
| url | https://journals.lww.com/10.4103/jfmpc.jfmpc_1839_24 |
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