Unraveling the mystery: Exploring a case of prolonged fever and hidden genetics: Case report

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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Bibliographic Details
Main Authors: Syed Furrukh Jamil, Kawther Ibrahim Alhawsawi, Shahad Mohammed Alrefaei
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-05-01
Series:Journal of Family Medicine and Primary Care
Subjects:
cobalamin ii deficiency
genetic disorder
pancytopenia
prolonged fever
Online Access:https://journals.lww.com/10.4103/jfmpc.jfmpc_1839_24
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