表现为胎儿水肿的围产期致死性戈谢病。
Perinatal-lethal Gaucher disease presenting as hydrops fetalis.
作者信息
BenHamida Emira, Ayadi Imene, Ouertani Ines, Chammem Maroua, Bezzine Ahlem, BenTmime Riadh, Attia Leila, Mrad Ridha, Marrakchi Zahra
机构信息
Neonatology Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
Genetic Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
出版信息
Pan Afr Med J. 2015 Jun 10;21:110. doi: 10.11604/pamj.2015.21.110.7052. eCollection 2015.
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.
围产期致死性戈谢病非常罕见，被认为是2型戈谢病在新生儿期出现的一种变异型。围产期致死性戈谢病最显著的特征是胎儿非免疫性水肿。该疾病较不常见的体征是肝脾肿大、鱼鳞病和关节挛缩。我们报告了一例在新生儿期诊断为戈谢病（2型）且伴有胎儿水肿的病例。
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