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Zorluk: ZorPediatric Hematology and Oncology

An 1111-month-old male infant is brought to the pediatric hematology clinic for a follow-up evaluation of thrombocytopenia. He has a history of recurrent acute otitis media and a recent hospitalization for pneumococcal pneumonia. His mother reports that he has been pulling himself to a stand and cruising along furniture for the past month. Physical examination reveals scattered petechiae over the lower extremities and intensely pruritic, erythematous, scaly plaques in the flexural creases of his arms and legs. Laboratory evaluation shows:

- Hemoglobin: 10.5 g/dL10.5 \text{ g/dL}
- White blood cell count: 6,800/mm36,800/\text{mm}^3 (Normal differential)
- Platelet count: 28,000/mm328,000/\text{mm}^3
- Mean platelet volume (MPV): 5.5 fL5.5 \text{ fL} (Reference range: 7.5−11.5 fL7.5 - 11.5 \text{ fL})

A genetic test confirms a mutation in a gene responsible for actin cytoskeleton reorganization. Which of the following is the most appropriate management for this patient?

  1. Referral for human leukocyte antigen typing and hematopoietic stem cell transplantationCevap
  2. B
    Administration of live-attenuated viral vaccines to protect against systemic infections
  3. C
    Initiation of empiric continuous therapy with broad-spectrum intravenous antibiotics
  4. D
    Reassurance that the cutaneous findings represent a transient, benign dermatologic condition
  5. E
    Referral for a comprehensive neurologic evaluation due to significant gross motor delay

Cevap

Referral for human leukocyte antigen typing and hematopoietic stem cell transplantation
Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency disorder caused by a mutation in the WAS gene, which leads to impaired actin cytoskeleton reorganization in white blood cells and platelets. It classically presents in male infants with a triad of microthrombocytopenia (low platelet count and profoundly decreased mean platelet volume), eczema, and recurrent infections. Because of the severe combined B-cell and T-cell dysfunction, patients are at extremely high risk for life-threatening infections, severe hemorrhage, and subsequent hematologic malignancies. The only definitive, curative treatment for WAS is hematopoietic stem cell transplantation (HSCT). Therefore, early referral for human leukocyte antigen (HLA) typing and subsequent HSCT is the most appropriate long-term management.

Adım Adım Çözüm

1
Analyze the clinical presentation and laboratory findings.
The patient is an infant male presenting with recurrent infections, a pruritic flexural rash (eczema), and profound thrombocytopenia with unusually small platelets (low mean platelet volume).
Synthesizing these specific findings is essential to establish the underlying diagnosis before determining management.
2
Identify the specific underlying syndrome.
The classic triad of microthrombocytopenia, eczema, and recurrent infections, combined with an actin cytoskeleton defect, is diagnostic of Wiskott-Aldrich syndrome (WAS).
Recognizing the WAS triad and the significance of the low MPV distinguishes this genetic disorder from other causes of childhood thrombocytopenia, such as immune thrombocytopenia (ITP).
3
Determine the definitive long-term management for the diagnosed condition.
Because WAS involves severe combined immunodeficiency and high risk for hematologic malignancies, the only curative therapy is hematopoietic stem cell transplantation (HSCT).
While supportive care includes prophylactic antibiotics and IVIG, HSCT is required to restore normal immune and platelet function and prevent early mortality.

Anahtar Kavram

Wiskott-Aldrich syndrome is characterized by the triad of microthrombocytopenia (low MPV), eczema, and recurrent infections; the only definitive, curative treatment is hematopoietic stem cell transplantation.
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Pediatric Hematology and Oncology

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