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

It is very rare with an incidence of less than 5% of GD cases.

Cause

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

Autosomal recessive inheritance, a 25% chance

The transmission is autosomal recessive.

Signs and symptoms

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

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

There is no treatment for this severe form of the disease.

NIH genetic and rare disease info

• NIH info on Gaucher disease perinatal lethal

Gaucher disease perinatal lethal is a rare disease.