Diagnostic Dilemma

Myelofibrosis, jaundice and scrotal swelling


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Question
A 4 years 8 months old boy presented with fever for 6 months, progressive abdominal distension for one month, epistaxis 20 days ago and bilateral swelling of feet since one day. He was diagnosed as myelofibrosis 4 months ago. At that time he had pancytopenia and bone marrow was hypocellular and had myelofibrosis with 9% blasts. He had received 5 blood transfusions and one platelet transfusion since then. There is no fever, jaundice or other bleeding, manifestations currently. On examination, he had icterus, edema feet, with splenohepatomegaly, ecchymotic patches on chest and legs and scrotal swelling with generalized lymphadenopathy. His investigations showed:
• Hemoglobin = 5.8 gm/dl
• WBC count = 15,400/cumm
• Platelet count = 6000/cumm
• Bilirubin = 3.2 mg/dl, SGOT = 78 IU/L, SGPT = 52 IU/L, Albumin = 3.7 gm/dl.
• USG abdomen showed hepatosplenomegaly without ascites.


What is the diagnosis?
Expert Opinion :
This child has presented with bicytopenia, bleeding manifestations and splenohepatomegaly and jaundice. Thus, one may consider a diagnosis of leukemia, histiocytosis and hemophagocytosis. Bone marrow does not show hemophagocytes, histiocytes or blast cells. Thus it is an evolving disease and diagnosis would become clearer as the disease progresses. The child on examination is found to have scrotal swelling. Since there is no ascites, it is unlikely to be hydrocele. Also in case of hernia, the swelling would be reducible unless it is an obstructed hernia. Thus, the scrotal swelling in such a scenario would imply testicular swelling. Presence of testicular swelling with above mentioned features suggests a diagnosis of leukemia and with myelofibrosis in previous bone marrow examination, one should consider a diagnosis of acute myeloid leukemia (AML). A repeat bone marrow examination in this child confirmed a diagnosis of AML. Thus not all pancytopenia with jaundice are histiocytosis or hemophagocytosis.
Answer Discussion :
H
Hussein Abdullahi Warsame
bubble
Acute lymphoblastic leukemia
4 years ago
U
Umar Shariff
bubble
Viral fever with thrombophocytopenia
4 years ago

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