Gaucher disease—perinatal lethal
Definition A distinct form of Gaucher disease type 2* (OMIM:608013) characterised by fetal onset of hydrops fetalis, neonatal distress, and death in utero. If born, neurologic involvement begins in the first week and leads to death within 3 months.
*An autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase
Clinical findings Hepatosplenomegaly, ichthyosis, arthrogryposis, and facial dysmorphism.
Molecular pathology Defects of GBA, which encodes a key enzyme in glycolipid metabolism, cause Gaucher disease perinatal lethal type.
Synonym Gaucher disease—collodion type