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Published on: October 21, 2014
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[Perinatal lethal Gaucher disease. Case report]
I N Voloshchuk1,2, I V Barinova1, E N Andreeva1
1Moscow Regional Research Institute of Obstetrics and Gynecology of the Ministry of Health of the Moscow Region, Moscow Region, Russia.
Arkhiv Patologii
|July 19, 2021
Summary
This study details a fatal case of Gaucher disease in a fetus, identified by specific physical signs and confirmed through genetic and biochemical tests. The findings highlight early developmental detection of Gaucher disease signs.
Area of Science:
- Perinatal medicine
- Medical genetics
- Biochemistry
Background:
- Gaucher disease is a lysosomal storage disorder caused by mutations in the GBA gene.
- Perinatal lethal forms can present with severe fetal abnormalities.
Observation:
- A 29-week-old fetus presented with non-immune hydrops, facial dysmorphia, hepatosplenomegaly, and cerebellar/pontine hypoplasia.
- Gaucher cells were identified in multiple fetal tissues, but not the placenta, which showed significant swelling.
Findings:
- Biochemical analysis revealed deficient glucocerebrosidase activity and elevated hexanoylsphingosine.
- Molecular genetic testing confirmed two GBA gene mutations, diagnosing Gaucher disease.
- Histologic signs of Gaucher disease were present early in fetal development.
Implications:
- This case underscores the importance of considering Gaucher disease in fetuses with non-immune hydrops and dysmorphic features.
- Early detection of Gaucher disease in utero is possible through a combination of clinical, biochemical, and genetic evaluation.
- Understanding early histologic manifestations aids in diagnosing and managing Gaucher disease during development.
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