Article
A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.
Metabolic brain disease - 1 Apr 2022
Kılavuz Sebile, Basaranoglu Murat, Epcacan Serdar, Bako Derya, Ozer Arife, Donmez Yasemin Nuran, Ceylan Emine Ipek, Tukun Ajlan, Ceylaner Serdar, Geylani Hadi, Mungan Halise Neslihan Onenli
Abstract excerpt
Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died before three months of age due to severe septicemia, respiratory and liver failure. One was homozygous for a novel GBA variant c.590 T > A (p.197 K), and the second homozygous for the known GBA mutation c.1505G > A (p.R502H). Ichthyosis, hydrops...
Topics
- Female
- Gaucher Disease
- Homozygote
- Humans
- Hydrops Fetalis
- Mutation
- Pregnancy