European Journal of Pediatrics

, Volume 163, Issue 2, pp 58–66

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements


    • Division and Program in Human GeneticsChildren’s Hospital Research Foundation
  • Generoso Andria
    • Department of PediatricsFederico II University
  • Antonio Baldellou
    • Department of PediatricsHospital Miguel Servet
  • Pauline E. Campbell
    • Plymouth Institute of NeurosciencePlymouth and Great Ormond Street Hospital for Children
  • Joel Charrow
    • Department of Pediatrics, Feinberg School of Medicine, Northwestern UniversitySection of Clinical Genetics, Children’s Memorial Hospital
  • Ian J. Cohen
    • Department of Pediatric Hematology Oncology, Schneider Children’s Medical CenterSackler School of Medicine, Tel Aviv University
  • Chris M. Harris
    • Plymouth Institute of NeurosciencePlymouth and Great Ormond Street Hospital for Children
  • Paige Kaplan
    • Section of Metabolic DiseasesChildren’s Hospital of Philadelphia and University of Pennsylvania
  • Eugen Mengel
    • Children’s HospitalJohannes-Gutenberg University
  • Miguel Pocovi
    • Department of Biochemistry Molecular and Cellular BiologyUniversity of Zaragoza
  • Ashok Vellodi
    • Metabolic UnitGreat Ormond Street Hospital for Children
Original Paper

DOI: 10.1007/s00431-003-1362-0

Cite this article as:
Grabowski, G.A., Andria, G., Baldellou, A. et al. Eur J Pediatr (2004) 163: 58. doi:10.1007/s00431-003-1362-0


Gaucher disease is caused by defective activity of glucocerebrosidase. The resulting accumulation of glucocerebroside in the lysosomes of visceral macrophages in various tissue and organ compartments leads to multiple manifestations, including hepatosplenomegaly, anemia, thrombocytopenia, growth retardation and skeletal disease. The most prevalent form of Gaucher disease is the non-neuronopathic (type 1) variant, which lacks primary involvement of the central nervous system. Traditionally, this has been referred to as the ‘adult type’; however, 66% of individuals with symptomatic non-neuronopathic Gaucher disease manifest in childhood. Onset in childhood is usually predictive of a severe, rapidly progressive phenotype and children with non-neuronopathic Gaucher disease are at high risk for morbid complications. Enzyme therapy with recombinant human glucocerebrosidase in childhood can restore health in reversible manifestations and prevent the development of irreversible symptoms. A heightened focus on pediatric Gaucher disease is therefore needed. Although some correlation has been found between genotype and phenotype, mutation analysis is of limited value in disease prognosis. Management of pediatric Gaucher disease should be underpinned by a thorough assessment of the phenotype at baseline with regular monitoring thereafter. Excluding neuronopathic disease is recommended as the first step. Subsequently, baseline evaluation should focus on staging of different storage tissues, particularly the bone the involvement of which results in the greatest long-term morbidity. These organ assessments are recommended because bone disease severity may not correlate with disease severity in other organs and vice versa. In addition, different organs may respond differently to therapy. Initial assessment of each organ system can enable setting of realistic and individualized goals. Conclusion: A thorough approach to baseline assessment will improve the understanding of childhood Gaucher disease, optimizing management to minimize impairment of growth and development and prevent irreversible symptoms.


Gaucher diseaseGenotypePediatricPhenotypeQuality-of-life




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© Springer-Verlag 2004