Mutations in the β-glucocerebrosidase gene cause Gaucher disease with the type 1 variant generally presenting later in life with mild disease and type 2 in infancy with severe neuronopathic symtoms. We describe a neonate homozygous for the D409 H mutation with thrombocylopenia, splenomegaly and cholestasis at birth as the major features.
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Obstetrics and Gynecology