Methods: We describe a male infant, one month and sixteen days of life, that presented severe thrombocytopenia (< 70.000/mm3 without morphological changes), petechiae and purpura since birth. On the third day of life, the patient presented eczematous lesions on the trunk and face. The patient remained well during the follow-up. Other possible causes of neonatal thrombocytopenia associated with skin lesions like congenital infections, neonatal lupus and onco-hematological diseases were excluded. On the 63th day of life, he presented the first skin infection; thereafter there were two more skin infections, and a third episode of infection that compromised the central nervous system, evidenced by seizures (bleeding was excluded by computerized tomography). He presented worsening of breathing pattern and oxygen dependency, without apparent cause, even after improvement of the infection. At four months of life, he developed respiratory failure and death.
Results: Hematological analyses: persistent thrombocytopenia since birth. Bone marrow was normal. Negative serology for congenital infections. Serum levels of IgG and IgA were normal, IgM was low. IgE was 71 kU/L. Genetic analysis for mutation of WAS gene is ongoing.
Conclusions: The presence of early persistent thrombocytopenia with small platelets is a strong indicator of WAS. However, the absence of platelet volume changes does not exclude the diagnosis. Clinical signs must be considered for the diagnosis suspected of this rare and severe disease.