Neonatal Type 2 Gaucher Disease with Congenital Ichthyosis: A Case Report

Abstract

Gaucher disease (GD) is a rare autosomal recessive genetic disease. The symptoms and age of onset vary depending on the subtype. Type 2 GD is potentially lethal, and the mean lifespan is less than 2 years. Due to rapid disease progression, early diagnosis of type 2 GD is important. Here, we present an infant with congenital ichthyosis and rigidity with joint contracture, who later presented with bulbar involvement. Feeding difficulty, apnea, hepatosplenomegaly, and thrombocytopenia were also evident. She was diagnosed with type 2 GD via whole-exome sequencing, which showed 2 pathogenic variants in GBA as a compound heterozygote: Arg296Gln (c.887G>A) and Pro24His (c.719C>A). Congenital ichthyosis with progressive respiratory and neurologic impairment may be key clinical findings for the early diagnosis of type 2 GD.