Discussions By Condition: I cannot get a diagnosis.

fever of unknown etiology

Posted In: I cannot get a diagnosis. 0 Replies
  • Posted By: bmurbati
  • November 27, 2007
  • 09:05 PM

i have 5mo old referred to our hospital with the following problem
prolonged fever not responding to IV antibiotic- pancytopenia- hepatosplenomegaly mildly disturbed liver function ALAT 90- bone marrow aspiration few HLH seen but clinically was not bad to treat , the bone marrow repeated 3 times HLH not increased in Number . the triglyceride and ferritin were normal. virology negative CMV, EBV, Hepatitis and TORCH. he was dignosed as FMF familial medetreanian fever (mutation detected)
he was dicharged from that hospital and came to us after 15days with macroscopic hematuria- fever- hepatosplenomegaly mildly disturbed liver function ALAT , normal blood count no pancytopenia. he responded to cefuroxime therapy, though still microscopic hematuria present.
the positive result is very low complemnt C4. high serum potassium 6.5 repeatedly with normal urea and serum creatinine, ANA, doublestranded DNA both negative
the above history is not in favor of hemophacytic histocytosis an the child did not progress, nor FMF ( pancytopenia and hepatosplenomegaly not usual association in FMF). in summary 5mo old thriving infant with recurrent febrile illness.

bone marrow aspiration few HLH seen--> non progressive
possitive FMF mutation
microscopic hematuria, low C4 and hyperkalemiawe thought about connective tissue disease & immunodificiency , especially neonatal SLE. what more we can do

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