Case history
Case history #1
A 2-year-old boy presents with patchy eczema affecting limbs, face, and trunk. He was delivered at term by forceps and noted to have a cephalhematoma. Platelets at the time were below the normal range and were still low on retesting. He has a history of recurrent ear infections and perforated eardrum for which he has received four courses of antibiotics in the past year. He has not had any other significant infections and is thriving. On examination he has moderate patchy eczema affecting limbs, face, and trunk with petechiae in areas of excoriation but is otherwise well. He is the first child of nonconsanguineous parents, and one of his mother's uncles died in infancy of bleeding.[Figure caption and citation for the preceding image starts]: Eczema and bleeding in Wiskott-Aldrich syndromeFrom the collection of S. Burns and A. Thrasher; used with consent given by parents [Citation ends].
Case history #2
A 6-year-old boy presents with a long history of easy bruising. There were initial concerns about nonaccidental injury, but on investigation he was found to have a low platelet count. He was given a diagnosis of idiopathic thrombocytopenia and started on corticosteroids. Despite adequate corticosteroid dosing, his platelet count has not responded. He has not had any significant history of infections but has a history of mild eczema. There is no significant family history.
Other presentations
Patients are often initially diagnosed as having idiopathic thrombocytopenia (ITP) that is usually refractory to corticosteroids. Children may have had splenectomy with partial or full correction of platelet counts. A key feature that distinguishes WAS from ITP is platelet size presplenectomy (characteristically small in WAS). Splenectomy for WAS substantially increases platelet size.[4][5][6] Patients may rarely present with features of juvenile myelomonocytic leukemia, including myelodysplasia.[7]
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