[Gaucher's disease in children: first clinical signs, natural course and benefits of enzyme replacement therapy].
OBJECTIVE
Gaucher's disease is a rare genetic disease. Paediatric patients present with highly severe disease and, until now, literature does not provide many descriptions in children only. A specific enzyme replacement therapy has been available for the last decade. Quality of life has been improved by the treatment.


METHODS
We studied 17 Gaucher patients (14 type 1 and 3 type 3) diagnosed before the age of 15 and treated afterwards. The first clinical signs and the course of the disease are described before and during treatment. To appreciate the impact of the treatment on quality of life, we established a clinical score with the functional symptoms of the patients.


RESULTS
The mean age was 6.4 years at diagnosis and 18.3 years at the beginning of the treatment. With specific treatment, all clinical and biological symptoms dramatically improved but some specific organic damages were irreversible.


CONCLUSIONS
The comparison of our patients with other reported paediatric cases confirm that Gaucher's disease in children is severe and has to be precociously diagnosed and treated. Clinical scores appeared to be helpful to choose the moment for treating and to follow-up the patients under treatment.
Caubel
I
I
Neuropédiatrie, hôpital d'enfants Armand-Trousseau, AP-HP, 26, avenue du Dr-Arnold-Netter, 75012 Paris, France. i.caubel@ch-bretagne-sud.fr
Billette de Villemeur
T
T
Belmatoug
N
N
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy* / Q000473:pathology*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011379:Prognosis; D011788:Quality of Life; D012189:Retrospective Studies; D012720:Severity of Illness Index; D016896:Treatment Outcome
D005962:Glucosylceramidase