Perinatal-lethal Gaucher disease presenting as hydrops fetalis
PAN AFRICAN MEDICAL JOURNAL(2015)
摘要
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis. We report a case of Gaucher's disease (type 2) diagnosed in a newborn who presented with Hydrops Fetalis.
更多查看译文
关键词
Gaucher disease,lysosomal storage disorder,perinatal form,hydrops
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要