BLUEBERRY MUFFIN BABY

Background. Blueberry muffin baby is a characteristic neonatal syndrom e characterized by multiple dark-bluish skin nodules. The clinical sig nificance and prognosis of this syndrome are variable. Case report. A male child was born to non-consanguinous parents. At birth, a polymalf ormative syndrome associated macrostomy, bilateral cryptochidy and hex adactyly. There were also about twenty firm dark-bluish skin nodules d isseminated over the entire body. These skin lesions regressed spontan eously within one month. Pathology examination of a skin nodule showed lymphomonocyte proliferation. Immunostaining favored T cell infiltrat ion without monoclonal proliferation. Medullar genome mapping showed e vidence of a fragile site on the end of chromosome 20. At 8 months the child had normal development. Discussion. We attributed this blueberr y muffin baby syndrome to T cell proliferation but we were unable to d istinguish between extramedullary leukopoiesis and leukemia. Despite t he absence of systematic disease and the complete regression, no exact diagnosis and prognosis could be established in the case. The associa tion of blueberry muffin baby syndrome with a polymalformative syndrom e was probably related to a genetic anomaly on chromosome 20 not previ ously reported.