OMENN SYNDROME - A CASE-REPORT OF A SUCCESSFUL, HETEROLOGOUS BONE-MARROW TRANSPLANTATION

We report the case of a 2-month-old boy, born of healthy and unrelated parents, presenting at birth with an exfoliative erythroderma, soft a nd waxy skin, alopecia, and recurrent widespread exudative episodes wi th hyperthermia and a severe electrolyte imbalance. Hypotrophy of musc ular masses, splenomegaly, episodes of intractable diarrhoea and failu re to thrive occurred later. A severe, combined immunodeficiency with eosinophilia emerged from the laboraty investigations. All these signs were consistent with the diagnosis of Omenn syndrome, a rare, autosom al recessive disease. The cutaneous features are the first sign of thi s disorder and an early diagnosis is crucial in order to manage the pa tient. Finally, successful therapeutic heterologous HLA compatible bon e marrow transplantation from a donor-bank is described.