Diagnostic Dilemma

Unexplained Hepatosplenomegaly


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Question
An 8 years old boy of born of non-consanguineous marriage presented with abdominal distension since 1 year. He has taken treatment with Anti tuberculous therapy {ATT} for 9 months suspecting abdominal tuberculosis without proper investigation and also taken treatment for chronic malaria with chloroquine. His family history is non contributory, development history is normal. On examination, child was afebrile, with height of 95cm {Less than5 percentile} and weight 13 kg {Less than3 percentile} with weight for height being 10th percentile. He had dry scaly skin, slightly icteric sclera, pallor and splenomegaly firm in consistency 8 cm below costal margin, hepatomegaly with left lobe enlarged firm 4 cm below costal margin with other system normal. There was no lymphadenopathy. Eyes showed signs of uveitis with no evidence of KF ring. Blood investigation showed anemia {Hb 8.5percent}, normal counts {10,000percumm}, ESR 55mmperhr, Malaria test negative, peripheral smear was microcytic hypochromic blood with no abnormal cells, bone marrow showed normoblastic erythroid maturation, serum copper level were high {229microgramperdl} with normal ceruloplasmin {56.5gperl}, brucella test was negative, serum ferritin was normal {153.74ngperml}, Hemoglobin electrophoresis was normal, ANA was negative.

What next to do for this patient_?
Answer Discussion :
D
dr amlcash
bubble
wilsons disease
16 years ago
J
Javedcash a
bubble
auto immune , indian child hood cirrhosis
16 years ago

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