An 8 month old with splenomegaly, leucocytosis and thrombocytopenia

Dr Ira Shah

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An 8 month old with splenomegaly, leucocytosis and thrombocytopenia

Dr Ira Shah.

Medical Sciences Department, Pediatric Oncall, Mumbai, India.

ADDRESS FOR CORRESPONDENCE
Dr Ira Shah, Medical Sciences Department, Pediatric Oncall, 1, B Saguna, 271, B St. Francis Road, Vile Parle {W}, Mumbai 400056.

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Clinical Problem
Case Report: An 8 months old female child born of non consanguineous marriage presented with swelling on the left side of abdomen, progressive pallor and breathlessness since 2 months. She had pneumonia at 1 month of age for which she required IV antibiotics. At 2½ months of age, she was treated for hypocalcemic convulsions. There was no other significant history.

On examination, she had frontoparietal bossing, wrist widening, beading and large open anterior fontanelle (5 cm x 4 cm). She had pallor, blond hair and petechiae over all 4 limbs. On systemic examination, she had a large firm Splenomegaly upto the umbilicus (almost 8 cms palpable) and soft hepatomegaly (5 cms palpable with span of 7 cm). Other systems were normal.

Her laboratory investigations revealed
Hemoglobin of 10.4 gm%,
WBC = 78,100 cells/cumm (43% polymorph, 29% lymphocytes, 2% Eosinophils, 15% metamyelocytes, 4% myelocytes, 4% band forms).
Platelets were decreased (52,400 cells/cumm)
Reticulocyte count was 7% with nucleated RBCs of 19/100 WBC.
ESR at end of 1 hour was 40 mm.
Serum calcium was 6.4 mg/dl and phosphorus of 2.5 mg/dl (both calcium and phosphorus low) and alkaline phosphatase was 60.9 IU/L (Normal = 80-120 IU/L).
Her liver enzymes were normal, and she was negative for HIV & Hepatitis B by ELISA. Her serum LDH was increased (S.LDH = 1559 mg/dl) and leukocyte acid phosphatase was low [(LAP = 13 (Normal = 30-100)] with ultrasound of abdomen suggestive of massive Splenomegaly and mild hepatomegaly.

What is the differential diagnosis?

Discussion
Discussion:
In view of the above clinical manifestations a differential diagnosis of Juvenile Chronic Myeloid Leukemia (JCML) or Monosomy 7 can be considered.
JCML is seen almost exclusively in children less than 5 years of age, mostly less than 2 years of age. Male preponderance has been noted (M: F = 3:1 to 2:1). Patients present with lymphadenopathy, petechaie, large Splenomegaly, fever, growth failure and even hepatomegaly. Commonly, there may be an erythematous desquamative facial rash present for months. These children are usually anemic, have thrombocytopenia with moderate leucocytosis. (Usually <100,000 cells/cumm). The leukocyte alkaline phosphatase activity is often reduced. Fetal hemoglobin is elevated and there is erythroblastosis. Serum immunoglobulins may be elevated. Bone marrow examination reveals hypercellularity with increased numbers of all myeloid and monocytoid cell forms. Megakaryocytes are usually decreased to absent. Erythropoiesis is ineffective. Myeloid: erythroid ratio may range from 2:1 to 5:1. Cytogenetic studies on children with JCML have not yielded consistent abnormal findings. Over 80% of patients have a normal Karyotype by conventional techniques. The Philadelphia (Ph’) chromosome is not found in JCML. Chronic infections with viral, fungal, mycobacterial and protozoal organisms have to be excluded before patient is labeled as JCML. Treatment consists of allogenic bone marrow transplant. Response to chemotherapy is poor. Survival is also only 30% with allogenic BML. Patients usually die of hemorrhagic or infections complications and/or its treatment. They do not undergo acute transformation or acceleration of disease as do individuals with adult chronic myelogenous leukemia. The onset of normoblastemia is observed as a preterminal event.
Monosomy 7 is a myeloproliferative preleukemic disorder seen in children less than 2 years of age. It has clinical manifestations similar to JCML; however, the fetal hemoglobin is normal in Monosomy 7 and elevated in JCML. Karyotype shows Monosomy 7. All patients with Monosomy 7 develop AML after 1month to 6 years after the onset of chronic myeloproliferative phase of the disease. Bone marrow transplant is required or else the outcome is uniformly fatal.

Compliance with ethical standards

Funding: None

Conflict of Interest: None

Cite this article as:
Shah I. An 8 month old with splenomegaly, leucocytosis and thrombocytopenia. Pediatr Oncall J. 2004;1.