2024/12/30 by Hammami, O., Barbaria W ., Ben Chehida A . +4
#Maladie de Pompe #Pompe disease #cardiomyopathie hypertrophique #enzyme replacement therapy #enzymothérapie substitutive #forme infantile #hypertrophic cardiomyopathy #infantile form
paper · doi:10.71566/pist-rmp-194632
Aim: This paper attempts to illustrate the diagnostic features of glycogenosis type II and to underline the contribu- tion of enzyme replacement therapy. Observations: We are presenting two cases of infantile form of Pompe',s disease (PD) with secondary hyper- trophic cardiomyopathy. The first case was a 6-month-old female infant who presented with hypotonia, hepa- tomegaly and growth delay. Myogenic damage was observed on electromyography. The evolution was fatal at the age of 9 months due to heart failure. The second case was a 4-month-old female infant with the same symptomatology. The diagnosis of PD was made by blood alpha-glucosidase and genetic assays. Enzyme replacement therapy was initiated in the second patient withclinical improvement. ConclusionPD is a serious metabolic disease that leads to death within the first year of life in 95% of cases. The prognosis of this disease has changed since the implementation of enzyme replacement therapy.