In 2018, a 5-day-old male neonate was presented bloody mucoid stool and followed with bloody tinged stool noted 3-4 times. Formula milk feeding was given since birth, and then the mother had shifted to mixed feeding for one day. Suspected cow-milk protein allergy or infectious colitis initially, he was admitted to our hospital for further survey and treatment. At sick baby room, feeding with complete hydrolysed formula for suspected milk protein allergy . His laboratory data showed thrombocytopenia and platelet transfusion was given during hospitalization. According to his mother, the patient had male sibling who was dead at 8 month old with recurrent infections. His sibling suffered from thrombocytopenia, anemia and generalized ecchymosis over trunck, legs and hands. Due to bloody stool after birth and his family history , gene study was recommended for further survey. Several days later, gene study report showed Wiskott-Aldrich Syndrome.
Wiskott-Aldrich Syndrome is an X-linked immunodeficiency disorder disease. The prevalence was 1/100000 in live birth and clinical manifestation with repeated infections, thrombocytopenia and eczema. Appropriate management with immunoglobuline and prophylaxis antibiotic for immunodeficiency condition. Hematopoietic stem cell transplantation is the only available curative treatment now. With the improvement of supportive care and high resolution HLA-typing methods, better success rates have been achieved in the last decade. This is the case of doctor good experience and alert parents for final diagnosis, so the patient can receive precise treatment. Thanks to everyone who participated in caring this case.