Two cases of neuronopathic form of Gaucher disease - diagnostic difficulties

  • Grazina Kleinotiene Vilnius University, Faculty of Medicine, Vilnius, Lithuania
  • Austeja Ivaskeviciene 1Vilnius University, Faculty of Medicine, Vilnius, Lithuania; 2Vilnius University Hospital Santaros Klinikos, Lithuania
  • Anna Tylki-Szymanska The Children’s Memorial Health Institute, Warsaw, Poland


Background: Gaucher disease is one of the most common inherited lysosomal storage diseases caused by the deficiency of the enzyme β-glucocerebrosidase, leading to the accumulation of glucocerebroside. Depending on the clinical manifestations, two different forms of the disease are distinguished - the non-neuronopathic form (type 1) with a variety of presentations - from asymptomatic to symptomatic patients (characterized by hepatosplenomegaly, thrombocytopenia, anemia and osteopenia), and the neuronopathic form (known as types 2 and 3). Besides visceral, osseous, and hematopoietic organ lesions, neuronopathic forms are associated with central nervous system involvement (bulbar and pyramidal signs, horizontal saccadic eye movements, myoclonic epilepsy, progressive development delay). In type 2, the neurological symptoms appear earlier and are more severe, the survival time is shorter. In type 3, the neurological symptoms are milder and allow patients to live a fully productive life. Case presentation: This article includes a review of two cases of neuronopathic Gaucher disease: type 2 and severe type 3. Both patients presented symptoms during infancy and the manifestations were similar but varied in intensity and the dynamics of progress. Enzyme replacement therapy was started in both cases, which decreased visceral symptoms. Conclusions: Both described cases indicate the lack of knowledge and the tendency of doctors to disregard the possibility of Gaucher disease in their paediatrics patients.