Phenotypic continuum in neuronopathic Gaucher disease: An intermediate phenotype between type 2 and type 3

Neuronopathic Gaucher disease, classically divided into two types, can have a continuum of phenotypes, often defying categorization. Nine children had an intermediate phenotype characterized by a delayed age of onset but rapidly progressive neurological disease. including refractory seizures and oculomotor abnormalities. There was genotypic heterogeneity among these patients.