Wiskott-Aldrich Syndrome之一病例報告

A six-year-old boy was admitted to the Pediatric Department of the University Hospital because of bleeding tendency for 7 days. Review of history showed that the patient had had recurrent attacks of bloody stool, petechiae and purpura since 3 months of age. Recurrent bacterial infections such as pneumonia and otitis media have ensued since then. Eczematoid lesions have appeared since one year of age. Physical examination on admissien revealed a moderately developed and under-nourished boy in conscious state. Diffuse petechiae on the entire body surface and gingival bleeding were found. There were eczematoid lesions on wrists, extensor surfaces of the legs and ankles. No hepatosplenomegaly, but lymphadenopathy on the cervical and inguinal areas was present. Fetid otorrhea from the right ear was found. Laboratory examination showed anemia, thrombocytopenia (ranged from 0 to 13,400/mm^3) and leukocytosis with shift to the left and the absolute lymphocyte count ranging from 2,680 to 10,400/mm³), fresh blood in the stools, normal IgG, increased IgA, IgD and IgE and decreased 1gM (69mg%), absence of isohemagglutinin, positive delayed skin hypersensitivity to mixed fungi and streptokinase and streptodornase, and negative PPD reaction. Inspite of repeated transfusion with fresh blood and platelets, bloody stools persisted and fresh petechiae and purpura continued to appear. The patient died of intracranial hemorrhage 10 days after admission.