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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Perinatal-lethal Gaucher disease presenting with blueberry muffin lesions
Francesco Maria Rosanio1, Ida D'Acunzo1, Filomena Mozzillo1
1Department of Translational Medical Sciences, Section of Pediatrics, Federico II University of Naples, Naples, Italy.
Abstract:
"Blueberry muffin baby" is an expression applied to newborns displaying a generalized purpuric rash caused by dermal erythropoiesis. This presentation is typically associated with TORCH (toxoplasmosis, other, rubella, cytomegalovirus, and herpesvirus) complex infections. However, alternative diagnoses should be considered, including other infections, neoplastic diseases, congenital vascular lesions, and metabolic diseases. We report a case of perinatal-lethal-type Gaucher disease presenting with cholestasis, hepatosplenomegaly, persistent thrombocytopenia, and blueberry muffin-like skin lesions.
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