Keeping Fevers In The Family

Phillippa A Pucar, Elizabeth Da Silva, Carolyn Hawkins, Matthew Cook

    Research output: Contribution to journalMeeting Abstractpeer-review


    We report the case of a previously well 8 year old boy of Irish, British and possibly indigenous Australian ancestry referred with an 18 month history of recurrent fevers up to 40 C on a fortnightly basis, each lasting two to six days. The fevers were heralded by headache and night terror and associated with malaise, myalgias, sweats and sometimes cervical lymphadenopathy, in the absence of rashes, abdominal pain, ocular symptom, adenitis or pharyngitis. He experienced significant although partial amelioration of symptoms with colchicine 500 μg daily, and acute episodes have been aborted or mitigated by oral steroids if given early in the course of fever. An associated inflammatory response was noted which normalises between episodes, and his baseline serum amyloid A was not elevated. Mevalonic acid and serum IgD levels were within normal limits. His father also reports recurrent fevers since childhood occurring every six weeks, which have ameliorated in adulthood. These occur in association with cervical lymphadenopathy, malaise and mouth ulcers. He was diagnosed with melanoma at age 12 and had a recent episode of aseptic meningitis. The probands brother is currently under investigation for muscular dystrophy, and his cousins are affected respectively by type 1 diabetes, IgA deficiency and congenital heart disease. Several paternal relatives have had melanomas. Investigations revealed the father to be heterozygous for HLA-B51. No mutations were found in MEFV and TNFRSF1A in the proband or his father. The proband underwent whole genome sequencing and a diagnosis was made.
    Original languageEnglish
    Pages (from-to)33-33
    JournalInternal Medicine Journal
    Publication statusPublished - 2016
    Event27th Annual Conference of the Australasian Society of Clinical Immunology and Allergy (ASCIA) - Queensland, Australia, Australia
    Duration: 1 Jan 2016 → …


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