[Neonatal hepatitis in a case of Gaucher's disease in its acute infantile form].
There is described a case of Gaucher's disease in its acute infantile form, interesting for the initial symptomatology marked by a hepatitic similarity, which has got manifest, already during the first days of life. A splenic and hepatic biopsy made at the age of about six months showed clearly the presence of cells with the characteristics of Gaucher's cells. A sure diagnosis was made at seven months through the determination of beta-glucosidase on the fibroblasts after the skin-biopsy. The patient died at the age of 14 months during an apnoic crisis.
D001706:Biopsy; D005260:Female; D005776:Gaucher Disease / Q000150:complications*; D006505:Hepatitis / Q000209:etiology* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000150:complications / Q000209:etiology; D008099:Liver / Q000473:pathology
Epatite neonatale in malattia di Gaucher acuta infantile.