Pédiatrie clinique : libre accès
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A Newborn with a Blueberry Muffin Rash, Hepatosplenomegaly,Thrombocytopenia and Severe Cholestatic Jaundice at Birth

Maria del Mar Romero Lopez, Cynthia Pryce and M Jeffrey Maisels

Neonatal cholestasis is characterized by an elevation of conjugated bilirubin. It occurs in approximately 1 in 2500 term infants. Gaucher Disease (GD) is an exceptionally rare cause of neonatal cholestasis. We report a male term newborn with a blueberry muffin rash, hepatomegaly and massive splenomegaly at birth. His total serum bilirubin (TSB)/direct was 13.5/11.9 mg/dL, and platelet count 20,000 bil/L. A leukocyte beta-glucosidase level was 0 and full sequencing of the GBA gene showed that he was homozygous for the pathogenic complex allele p.D409H and a second variant p.H255Q, consistent with the diagnosis of the severe phenotype GD type 2.