Title : Thrombocytopenia in an infant
 
Clinical Problem : A 4½ month old boy born of 3rd degree consanguineous marriage presented with intermittent fever and gradual distension of abdomen since 2 months and self limited oral ulcers 7 days back. He was an elective caesarean section delivery in view of breech presentation with a birth weight of 2.7 kg and no antenatal or post natal complications. He is on exclusive breast feeds and immunized till date. He has achieved milestones normally. Father had tuberculosis 8 years back. On examination, the child was well nourished {Weight = 5.75 kg, Height = 62 cm} and had no lymphadenopathy, jaundice or edema. On systemic examination, he had splenohepatomegaly. Other examination findings were normal.
Investigations showed:
- Hemoglobin = 11.1 gm, dl
- WBC count = 7,800, cumm {polymorphs 14 percent, lymphocytes 80 percent}
- Platelet count = 83,000, cumm
- SGPT = 49 IU, L
- Total proteins = 6.3 gm, dl, Albumin = 3.6 gm, dl
- S. Bilirubin = 0.6 mg, dl
- USG Abdomen = Splenohepatomegaly
- TORCH titres = Negative
- X-Ray Chest = Normal
- Bone marrow examination – Megakaryocytes reduced
- HBsAg, Anti HCV, VDRL = Negative
- Bone marrow G-CSF study = Normal
- Karyotype = 46 XY {No breaks}
 
Question : What further tests should be done to diagnose this child _?
 
Expert Opinion : This child has presented with splenohepatomegaly since 2½ months of age and has thrombocytopenia. Hence, one would consider a diagnosis of
- Congenital infection
- Leukemia
- Storage disorder

The most likely malignancy that would present with a chronic course of 2 months with predominant splenomegaly and thrombocytopenia would be Juvenile Meta Myeloid Leukemia {JMML} However, in this child, bone marrow examination as well as bone marrow G-CSF studies are normal. Hence JMML is ruled out. Other possibility that may be associated is monosomy 7 that can present the same way which also has been ruled out in view of normal karyotype.
A storage disorder such as Gaucher’s disease and Niemann Picks disease can present with splenohepatomegaly. However, bone marrow examination would have picked up the foam cells, storage cells which in this child were absent and hence storage disorder also seems unlikely.
Congenital infections can present with bone marrow involvement as well as organomegaly at this age group. However in this child TORCH titres, HBsAg, Anti HCV and VDRL were negative ruling out the common causes of congenital infections. However, HIV is one infection that can cause thrombocytopenia as well as hepatosplenomegaly. Infact, it has been found that almost 8-10 percent of patients with Idiopathic thrombocytopenic purpura {ITP} have HIV infection. Hence, this child should be tested for HIV.
The parents were counseled for the same and HIV DNA PCR was positive in this child with a viral load of 1,20,000 copies, ml. Both parents were also subsequently tested and found to be HIV infected.
This child was started on highly active antiretroviral therapy {HAART} and after 6 months, his viral load was undetectable.
Hence, in a child with hepatosplenomegaly and thrombocytopenia, always rule out HIV infection.

E-published: October 2011 Vol 8 Issue 10 Art No. 69
 
DOI No. :
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