In a recent case report, a newborn was found to have thrombocytopenia, of which fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a common cause. The child was eventually diagnosed with Wiskott-Aldrich syndrome and treated accordingly.
This case report was recently published in the Journal of Clinical Images and Medical Case Reports.
A one-month-old male newborn was investigated for congenital thrombocytopenia, a condition in which the body does not produce enough platelets. During pregnancy, the mother was diagnosed with SARS-CoV-2 and Cytomegalovirus (CMV) infection.
The newborn received platelet transfusions and intravenous immunoglobulin (IVIG) therapy. Investigations confirmed the presence of CMV infection.
Because the possible causes of congenital thrombocytopenia are manifold, the child’s physicians had to carefully rule out probable causes of this disorder. However, it was the child’s clinical combination of possible micro-thrombocytopenia, eczema, and colitis (ie, inflammation of the colon) that led to targeted immunological assessments. The newborn was found to have severe Wiskott-Aldrich syndrome, which was confirmed via genetic testing.
Read more about FNAIT testing and diagnosis
The child was administered supportive care, which included chemoprophylaxis, IVIG, and platelet transfusions. The patient was soon found to have developed painful oral ulcers, which caused difficulty swallowing. The child’s eczema had also spread to other parts of his body.
Given the child’s clinical deterioration, his physicians deemed him to be a good candidate to receive peripheral blood stem cell transplant from a fully matched (unrelated) adult donor. This procedure proceeded successfully despite acute graft vs host disease grade II reaction, which was resolved with steroids. The child received periodic IVIG infusions, cyclosporine, and treatment for mild CMV infection.
The child was discharged with immunosuppressants, corticosteroids and cyclosporine. Two and a half-years later, the patient no longer had any symptoms present and had a normal blood cell count.
“Differential diagnosis of congenital thrombocytopenia is complex and includes numerous etiological factors, infectious, genetic, hematological and hereditary,” the authors of the report wrote.
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