La paralysie cérébrale infantile est le trouble moteur d’origine neurologique plus fréquent durant l’enfance. spasticité peut être réduite avec succès au moyen d’une rhizotomie dorsale sélective.

The fibromatoses are a heterogeneous group of soft tissue lesions sharing common histological features. They are non-metastasizing fibroblastic tumors, which tend to invade locally and may recur after surgical excision. They have been classilied as infantile fibromatoses and adult fibromatoses. Infantile fibrornatoses exclusively occurs in infants and young children under 2 years of age. They u...

A molecular analysis of the arylsulphatase A gene was performed on 26 unrelated, Italian, late infantile metachromatic leucodystrophy patients. The frequency of the common disease causing mutations 609A and 2381T was 28.8% and 1.9% respectively. Pseudodeficiency allele frequency in patients was found to be 13.5% and a frequency of 10.1% was found in 89 unaffected normal controls. The frequency ...

Pompe disease is a rare autosomal recessive lysosomal storage disease caused by defi ciency of acid α-glucosidase (GAA). This defi ciency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage, and organ dysfunction. In early onset patients (the classic infantile form), this glycogen accumulation leads to death, usually before the age of 1 year. Some p...