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


Kilavuz S., Basaranoglu M., Epcacan S., Bako D., Ozer A., Donmez Y. N. , ...More

METABOLIC BRAIN DISEASE, 2022 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Publication Date: 2022
  • Doi Number: 10.1007/s11011-022-00942-5
  • Title of Journal : METABOLIC BRAIN DISEASE
  • Keywords: Gaucher disease, GBA, hydrops fetalis, Ichthyosis, PHENOTYPE, NULL

Abstract

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 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. Due to the disease's early and rapid neurological progression, we did not administer ERT to our patients. It is strongly believed that early diagnosis is essential, and prenatal diagnosis makes genetic counselling possible for future pregnancies.