Clinical Presentation:
We report a rare case of a 9-year-old male of Asian
descent recent immigrant to the USA, a product of a non-consanguineous
marriage, born full-term with no perinatal complications.
He was diagnosed with XLT at 3 months of age in China with baseline
platelet count ranging between 20 to 30,000/mm3. He
was found to have hemizygous WAS c.256C>T (p.Arg86Cys)
mutation which was confirmed by us. The patient has previously been
treated for frequent epistaxis with IV infusions of etamsylate and
platelet transfusions. Of note, the patient also has a past surgical
history significant for open-heart surgery at 6 months of age for a
cardiac septal defect.