Is it Wiskott Aldrich Syndrome_?

 
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A 6 years old boy presented with fever for 2 months and cough for 15 days. He had been treated for abdominal TB 2 years ago for 9 months. On examination, his weight was 16 kg. Other systems were normal. Hemogram showed hemoglobin of 10.3 gm, dl, WBC count of 9,600, cumm {40 percent polymorphs, 46 percent lymphocytes, 14 percent eosinophils} and platelets of 26,000, cumm. His Chest X-Ray showed bilateral basal and right perihilar haziness. CT chest showed multiple tiny nodular opacities in bilateral lung parenchyma with multiple small cavities in right upper lobe and hilar adenopathy suggestive of tuberculosis. His HIV ELISA was negative. He was started on 4 drug antituberculous therapy {ATT}. Two months later, his Chest X-Ray was normal but thrombocytopenia persisted. He was shifted to 2 drugs ATT. At end of 3 months, he developed atopic dermatitis with seborrheic dermatitis which responded to antihistamines and emollients. He was suspected to have Wiskott Aldrich syndrome {WAS} but MPV was decreased and bone marrow showed increased megakaryocytes. His serum immunoglobulins were also normal. At end of 6 months, ATT was stopped but platelets were still low. He then had malena which required platelet transfusion. His serum IgE was elevated {542 IU, L}.
Expert Opinion :
The diagnosis of WAS should be considered in any male with congenital or early-onset {or even transient} thrombocytopenia and small platelets. A history or the presence of mild or severe eczema supports the diagnosis. Diagnosis is based on mutation in the WASP gene, or with absent WASP mRNA or protein in peripheral blood mononuclear cells. Bone marrow transplantation or the use of cord blood as a source of stem cells are the only curative therapy available for WAS patients.
Answer Discussion :
S
sarif malik
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WISKOTT ALDRICH SYNDROME
5 years ago
N
namdev birajdar
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in mpv ITP is increased.looks like WAS.....WITH PARASITIC INFECTION
5 years ago

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