A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

Metab Brain Dis. 2022 Apr;37(4):1283-1287. doi: 10.1007/s11011-022-00942-5. Epub 2022 Mar 7.

PMID: 35254599

Sebile Kılavuz, Murat Basaranoglu, Serdar Epcacan, Derya Bako, Arife Ozer, Yasemin Nuran Donmez, Emine Ipek Ceylan, Ajlan Tukun, Serdar Ceylaner, Hadi Geylani, Halise Neslihan Onenli Mungan

Highlights: Early diagnosis is essential for Gaucher disease, and prenatal diagnosis makes genetic counselling possible for future pregnancies.

Abstract

Background: Gaucher disease type 2 (GD2) is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type.

Objective: Two GD2 patients were presented in this study who died before three months of age due to severe septicemia, respiratory and liver failure.

Results: 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 fetalis, apnea, myoclonic seizures, and hepatosplenomegaly occurred in both patients, but hypertrophic cardiomyopathy was observed only in the second and unilateral cataract in the first patient.

Conclusion: Due to the disease's early and rapid neurological progression, enzym replacement therapy (ERT) was not administered to these two patients. It is strongly believed that early diagnosis is essential, and prenatal diagnosis makes genetic counselling possible for future pregnancies.

Keywords: Gaucher, GBA, Gaucher disease, Ichthyosis, hydrops fetalis