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Metabolic Diseases Campaign : A Lysosomal storage disease mimicking common paediatric symptoms?

Belgian Journal of Pediatrics: Dominique Rolland, François Eyskens


Introduction: Recently the Belgian recommendations for diagnosis, treatment and monitoring of Gaucher disease (GD) that already dated from 2004 were revised.
This expert opinion was inspired by a working group focusing on a profound revision of the former Guidelines with recent knowledge. Increasing awareness
of this rare lysosomal storage disease among paediatricians is needed in order to anticipate early diagnosis in paediatric patients, to avoid a time consuming diagnostic odyssey and to prevent irreversible organ damages.

Methodology: Based on a clinical history to illustrate the subject, we wanted to emphasise the clinical and biochemical diagnosis of this rare disease in the paediatric
population, as it is widely recognised that early treatment in lysosomal storage diseases is the clue to a better outcome. Enzyme replacement therapy is the treatment of choice in children under 18 years of age. In adults, new oral therapies are now available and could be implemented in children in the future.

Discussion: This text based on Belgian expert opinion is aimed at paediatricians and treating physicians regarding the necessary assessment(s) at diagnosis for
GD, the treatment according to disease severity, as well as monitoring of the patient during follow up. It reflects not only international recommendations and
literature but also the knowledge and expertise of Belgian experts.