Wiskott–Aldrich syndrome with possible congenital Cytomegalovirus infection: A diagnostic dilemma

Wiskott–Aldrich syndrome (WAS) is an X-linked recessive disorder, characterized by thrombocytopenia, eczema and recurrent infections. We report a 4-month-old boy who presented with respiratory distress, petechiae, organomegaly and eczema. He was admitted to the paediatric intensive care unit because of severe respiratory distress due to Cytomegalovirus (CMV) infection. As peripheral blood smear showed microthrombocytopenia, Sanger gene sequencing was performed, which confirmed the diagnosis of WAS. This rare combination of possible congenital CMV infection in the background of WAS, misled the initial diagnosis.

Malakoplakia of colon in a child with celiac disease and chronic granulomatous disease.

Malakoplakia is a rare pseudotumoral inflammatory disease known to affect immunocompromised subjects. We report a 4-year-old boy with malakoplakia of colon who was diagnosed with celiac disease in late infancy; despite aggressive nutritional and medical management for celiac disease, symptoms did not resolve. His nitro-blue-tetrazolium test was compatible with chronic granulomatous disease. In colonic biopsy Michaelis-Gutmann bodies were seen.