A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.
Sebile KılavuzMurat BasaranogluSerdar EpcacanDerya BakoArife OzerYasemin Nuran DonmezEmine Ipek CeylanAjlan TukunSerdar CeylanerHadi GeylaniHalise Neslihan Onenli MunganPublished in: Metabolic brain disease (2022)
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.
Keyphrases
- liver failure
- end stage renal disease
- hypertrophic cardiomyopathy
- chronic kidney disease
- ejection fraction
- peritoneal dialysis
- newly diagnosed
- hepatitis b virus
- replacement therapy
- gene expression
- pregnant women
- heart failure
- patient reported outcomes
- preterm birth
- intensive care unit
- early onset
- hiv infected
- subarachnoid hemorrhage
- respiratory failure
- quantum dots
- atrial fibrillation
- blood brain barrier
- acute respiratory distress syndrome
- positive airway pressure