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Gurmeet Singh, Reena Sood Department of Pediatrics and Department of Obstetrics and Gynaecology, Sh...

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Question
Dear sir 2young couple, closely relative to each have a big problem .They have 6 children 3 alive & 3 died due to unknown cause. Those who died usually the problem started at the age 4-6month as chest infection which is resistant to treatment.Those who died are male & female. The 1st died at 4m, 2nd died at 6m, 3rd died at 2year after a protracted course of illness started as LRT infection & lymphadenopathy . The age of the alive children are 8y (female) , 3y(female), 18m(male).The 1st & 3rd are totally normal.The 2nd child is 3y(female) run the same illness LRT infection , lymphadenopathy, FTT progress to chronic lung disease + clubbing of fingure+ chronic exuding ,fascial widespreading skin infection . Those who died & this pt. are fully vaccinated ,while those survived are not vaccinated . On exam. Chronically ill child under weight dyspenic with + clubbing of fingure Vital sign are normal apart from tachypenia Generalized lymphadenopathy, Resp. system: bilatrel rhonchi & crepition Cvs. System: normal Soft abdomen, mild hepatosplenomegaly Investigation: Cbc normal GOT+GPT normal Blood urea & creatinin normal Immunoglobuline assay normal ESR 50 Sweat test normal Toxoplasmosis titer: -ve Blood , urine, stool culture are â€“ve Tt reaction â€“ve ACE normal Sputum for Tb bacilli â€“ve Gastric aspirate for Tb bacilli â€“ve Bone scan normal Abdominal sonar normal Cxr & CAT scan chest infection & hilar lymphadenopathy +lung fibrosis. Lymph node & lung biopsy :Follcular hyperplastic lymphadenitis with evidence of progressive transformation of germinal centers & occasional mini clusters of epitheloid & giant cells without true granuloma formation or caseation necrosis. This is most consistent with: a. progressive transformation of germinal centers. b. Toxoplasmosis & other specific(none-Tb) infection. The skin lesion as seen by an expert dermatologist to be mostly as Tb of skin. What is your opinion about this case? Waiting your advice.
Answer
What is serum IGE? Also is there persistent neutrophilia. One should rule out Hyper IgE and Chronic granulomatous disease. A serum IgE level, NBT test and peripheral smear for neutrophil granules is advisable. Back to All Questions

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