Wiskott-Aldrich Syndrome (WAS) is an X-linked disorder characterized by severe thrombocytopenia, eczema, humoral and cellular immunodeficiency, and an increased susceptibility to lymphoid malignancies. The milder form is X-linked thrombocytopenia (XLT), characterized by persistent thrombocytopenia with minimal or no signs of eczema or immunodeficiency.

An eight-year-old male patient was admitted to the hospital at six months of age with complaints of coughing and wheezing. Bone marrow aspiration was performed after thrombocytopenia was detected in a complete blood count, and the bone marrow was interpreted as technically hypocellular. Immun thrombocytopenia was suspected, and follow-up was recommended. Since he had no bleeding, he did not return to our clinic. When the patient was scheduled circumcision at the age of seven, his platelet count was 30,000/mm3, so he was referred to our clinic from anesthesia.

In his medical history, he had severe eczema as a baby, which later improved, and he has no history of bleeding.

In his family history, his uncles also had low platelet counts, and three of his uncles underwent splenectomy for this reason, after which their platelet counts returned to normal.

On physical examination, the patient had no signs of dermatitis, petechiae, purpura, or ecchymosis. The liver and spleen were palpable at 2 cm.

Laboratory tests: Hgb: 12.9 g/dl, Htc: 36.7%, white blood cells: 12,360/mm3, platelets: 30,000/mm3, MPV: 9.1 fl (normal), and platelet size appeared normal in the peripheral smear.Sedimentation was normal, and immunoglobulin values were normal for age.

Based on these findings, a preliminary diagnosis of XLT was considered, and WAS genetics were sent. In the WAS gene, a c.223G>A (p.V75M) hemizygous mutation was detected. The patient was diagnosed with XLT based on clinical findings and this mutation in the WAS gene. Eltrombopag treatment was initiated but was ineffective, so a splenectomy was performed.Subsequently, the platelet count reached 323,000/mm3. No decrease was observed during follow-up.

This situation can cause confusion with immune thrombocytopenia (ITP) and delay the diagnosis of XLT. Since XLT patients present with a milder clinical picture than classic WAS, treatment selection should be based on the patient's clinical presentation. Studies have shown that IVIG or antibiotic prophylaxis has no effect on the frequency or severity of infections in these patients. Since our patient did not have a history of frequent or severe infections, we did not initiate these treatments. Studies have shown that the incidence of bleeding decreases significantly after splenectomy, but the incidence of infection increases. Our patient's platelet counts returned to normal after splenectomy. To reduce the frequency of infections, we administered encapsulated bacterial vaccines and started penicillin prophylaxis for our patient. Due to the permanent morbidity in XLT, hematopoietic stem cell transplantation (HSCT) is the definitive treatment method. However, considering the side effects of HSCT, this decision should be made according to the patient's clinical condition.