Abstract
Perinatal Lethal Gaucher Disease (PLGD) is a rare form of Gaucher disease and is often considered a distinct form of type 2 Gaucher disease. The authors report on an infant who presented with progressive hepatosplenomegaly, ichthyosis, generalized skin edema and neonatal encephalopathy and died at 6 h of age. Autopsy revealed massive hepatosplenomegaly, ichthyosis, a diffuse collodion picture and histological evidence of infiltration by Gaucher cells in the liver, spleen, lung, thymus, lymph node and bone marrow. Genetic testing of the parents revealed both to be carriers of Gaucher disease.
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AS, JJ and NP were involved in the patient management, literature search and manuscript preparation. AP provided expert opinion and diagnosis of the condition. AS will be the guarantor.
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Plakkal, N., Soraisham, A.S., Jirapradittha, J. et al. Perinatal Lethal Gaucher Disease. Indian J Pediatr 78, 106–108 (2011). https://doi.org/10.1007/s12098-010-0247-2
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DOI: https://doi.org/10.1007/s12098-010-0247-2