Gaucher disease perinatal lethal
Other Names: Gaucher disease collodion type; Gaucher disease, perinatal-lethal form; Perinatal lethal Gaucher disease
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease.
Epidemiology[edit | edit source]
It is very rare with an incidence of less than 5% of GD cases.
Cause[edit | edit source]
Fetal Gaucher disease is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that encodes for the lysosomal enzyme, glucocerebrosidase. The enzyme deficiency resulting from the mutation leads to accumulation of glucosylceramide (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, spleen and bone marrow (Gaucher cells).
Inheritance[edit | edit source]
The transmission is autosomal recessive.
Signs and symptoms[edit | edit source]
This form is particularly severe. The disease manifests in the fetus with a decrease or absence of fetal movements, fetal and placental anasarca, hepatosplenomegaly, ichthyosis, arthrogryposis, facial dysmorphism and fetal thrombocytopenia. Death usually occurs in utero or shortly after birth (<3 months).
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Arthrogryposis multiplex congenita
- Congenital nonbullous ichthyosiform erythroderma
- Death in infancy(Infantile death)
- Hydrops fetalis
- Intracranial hemorrhage(Bleeding within the skull)
- Neonatal death(Neonatal lethal)
- Pancytopenia(Low blood cell count)
- Stillbirth(Stillborn)
- Thrombocytopenia(Low platelet count)
30%-79% of people have these symptoms
- Anteverted nares(Nasal tip, upturned)
- Depressed nasal bridge(Depressed bridge of nose)
- Ectropion(Eyelid turned out)
- Fetal akinesia sequence
- [[Hepatomegaly](Enlarged liver)
- High palate(Elevated palate)
- Hypertonia
- Low-set, posteriorly rotated ears
- Muscular hypotonia(Low or weak muscle tone)
- Seizure
- Splenomegaly(Increased spleen size)
Diagnosis[edit | edit source]
Diagnosis is made by demonstrating a deficiency in the enzymatic activity of glucocerebrosidase.
Antenatal diagnosis Biochemical prenatal diagnosis is recommended for couples who have already had a child diagnosed with Fetal Gaucher disease or GD type 2. It can be carried out by measuring the enzyme activity in chorionic villus samples at 10-12 weeks of pregnancy or in amniocytes in culture towards 16 weeks of pregnancy.
Treatment[edit | edit source]
There is no treatment for this severe form of the disease.
NIH genetic and rare disease info[edit source]
Gaucher disease perinatal lethal is a rare disease.
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