Introduction Gaucher’s disease is the most common of the inherited metabolic disorder known as lipid storage diseases. It is a lysosomal disease, autosomal recessive. It is caused by a deficiency of beta-glucocerebrosidase. The result is a substance called glucocerebroside to build up in cells of the body (Spleen, liver, lungs, bones and sometimes in the brain.
There are three clinicals types:
Doesn’t involve the brain
Severe brain damage
Brain-Liver-Spleen involvement appear gradually
Materials and Methods It’s a baby 13 months old. He had hepatosplenomegaly with cytopenia. He had the neurological signs such pyramidal syndrome with contra version ocular without flutter.
The exploration concluded for the GD by the enzymatic dosage.
Results After six years of follow up, enzyme replacement therapy (Imiglucerase) has demonstrated its effectiveness as well as biological as clinical.
Our observation has been raised the possibility of signs of brain involvement in the type 1.
The finding joins a few cases in the literature.
This data calls into question the traditional classification cited from above.
Conclusion We emphasize the importance of studying more of cases (Clinic - Genetic) to put an update on the current classification.
The early therapeutic in the management of GD is still advantageous.