Wiskott-Aldrich Syndrome having Atypical Presentation like Evans Syndrome

Abstract

Background: Wiscott Aldrich syndrome [WAS] is an X-linked recessive condition characterized by thrombocytopenia and small dysfunctional platelets, recalcitrant eczematous dermatitis, and recurrent bacterial infections. In this report, we describe an unusual case of WAS in an Indian boy who presented with early onset thrombocytopenia and autoimmune haemolytic anemia. Case presentation: 3 months male infant was evaluated for poor feeding and oral ulceration blood work up showed anemia and thrombocytopenia. He was treated with intravenous immunoglobulin. At 11 months of age he presented with yellowish discoloration of eyes,poor feeding, irritability, vomiting, generalised purpuric rashes. Blood investigations revealed anemia,thrombocytopenia, indirect hyperbilirubinemia, positive direct coombs test[4+]. He was treated with steroids, intravenous immunoglobulin, to which he showed partial response. However 1 month later he presented with worsening thrombocytopenia and anemia, mycophenolate mofetil was initiated and continued for 4 months, due to unavailability of mycophenolate mofetil he was started on oral cyclosporine. He relapsed in 1month, 6 doses of rituximab were given. He had refractory thrombocytopenia while his haemoglobin and white blood cell counts improved after rituximab therapy. He developed eczematous rashes all over face and neck regions. WASP Gene mutation screening showed splite site mutation (c.360+1G>T) in exon 3 intron 3 boundary in WASP gene. At 2 year of age child succumbed to staphylococcus aureus sepsis. Outcome: At 2 year of age child succumbed to staphylococcus aureus sepsis. Conclusion: Diagnosis of Wiskott-Aldrich syndrome should be considered in any male infant who presents with early onset thrombocytopenia, eczema, and recurrent infections.