ArticleMetabolic brain disease2022
A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.
Article in Metabolic brain disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 5 citations in OpenAlex.
- Gaucher disease type 3c: Expanding the clinical spectrum of an ultra-rare disease.JIMD reports · 2024Article
- The molecular mechanism of Gaucher disease caused by compound heterozygous mutations inFrontiers in pediatrics · 2023Article
- An Overview of Molecular Mechanisms in Fabry Disease.Biomolecules · 2022Review
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11 authors at 3 institutions in 4 countries.
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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.
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