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

J Pediatr. 2003 Aug;143(2):273-6. doi: 10.1067/S0022-3476(03)00302-0.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Age of Onset
  • Female
  • Gaucher Disease / classification
  • Gaucher Disease / genetics*
  • Humans
  • Infant
  • Male
  • Phenotype*