Diagnostic Dilemma

Fever with thrombocytopenia


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Question
A 4-year-old boy born of non-consanguineous marriage presented with fever for 6 days and decreased urine output. There was difficulty in walking due to a wide-based gait for 6 days and pain in the left hip. He has had a right eye paralytic squint since birth. He was a full-term delivery at home and his mother had a fever in the 8th month of pregnancy. He had convulsion at 6 months and 3½ years of age with fever. EEG done was normal. MRI was suggestive of cortical dysplasia and hypoplastic corpus callosum with mild Dandy-Walker Variant. Milestones were normal and the child is not on any anticonvulsants. On examination, there was pallor, petechiae on the left hand, right convergent squint, wide-based gait with normal deep tendon reflexes. There was no neck stiffness or hepatosplenomegaly. Other systems were normal. IQ test = 95. Investigations showed:
• Hemoglobin = 8.2 gm/dl
• WBC count = 11,100/cumm (20% polymorphs, 80% lymphocytes)
• Platelet count = 39,000/cumm
• ESR = 60 mm Hg
• SGPT = 15 IU/L
• Renal function tests, serum electrolytes
• Urine = Normal
• Prothrombin Time, Partial thromboplastin time = Normal
• Dengue ELISA, Leptospira tridot = Negative
• Peripheral smear = Atypical lymphocytes with decreased platelet
• X-Ray lower limbs and ultrasound of hip = Normal
• CPK = 24 IU/L
• Blood culture = Negative
• HIV = Negative

He gradually showed improving platelet count and decreasing neutrophil count. His gait improved gradually. However, he continued to have neutropenia, and subsequently, even the hemoglobin and platelet count again dropped over a period of 15 days.
• CMV, EBV = Negative
• Bone marrow aspirate = Dilute marrow

What is the diagnosis?
Expert Opinion :
This child has presented with progressive pancytopenia. Thus, one may suspect aplastic anemia, hemophagocytosis, and leukemia as possible causes. Aplastic anemia may be likely as the child does not have hepatosplenomegaly or lymphadenopathy. However, children with aplastic anemia usually do not have this waxing-waning of platelet count and red cells tend to decrease earlier. In this child, neutrophils were the predominant cell line to be affected. Neutropenia and thrombocytopenia may be seen with viral infection which can cause bone marrow suppression. However, in this child, most of the viral markers such as HIV, Dengue, CMV and EBV were negative. The important part in the history is the waddling gait in the child with a painful left hip. Though X-Rays of the limbs and ultrasound were normal, bone involvement may still be present and can only be detected by bone scan. Leukemia can present with bone pains and pancytopenia. With infiltration of leukemic cells in the marrow, the normal WBC, red cells and platelets tend to disappear leading to pancytopenia. A peripheral smear after 15 days showed presence of blast cells (100%) and the child was diagnosed as leukemia.
Answer Discussion :
A
Abdalla Almatbagi
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Acute Viral Infection
9 Days ago
B
Brunnel Ngwanet
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I think of an anemia, primarily aplastic anemia. As differential diagnosis, I think of viral demyelination by parvovirus B19 or SLE infection
12 Days ago

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