[2 cases of arthrogryposis].
The authors report two cases of arthrogryposis in two children of 7 1/2 and 13 years; the diagnostic criteria were those of Fisher, combining the joint limitations present since birth in at least two different regions, the absence of progressive neurological involvement, and evident amyotrophy. The different etiopathogenic theories are then discussed: review of the literature concerning cases of myopathic arthrogryposis is not very useful; the twelve cases mentioned in the literature are not homogenous, the histopathological findings were very variable, and the histoenzymological studies have been insufficient. The combination of neurological anomalies with arthrogryposis is undeniable (cerebral atrophy, depopulation of the anterior cornu, anterior radicular changes). They are not always present, however, and are insufficient to explain the symptoms. Consideration should be given to the question of whether the importance of the changes in the connective tissue are not underestimated: the proliferation of the connective tissue is, in fact, most of the time, the essential feature to be seen in a histological section. In connection with this "connective theory" it is important to recall the work of Ionasescu et al. (1970) who demonstrated in vitro the excessive synthesis of connective proteins in the muscles of patients with arthrogryposis.
D000251:Adenosine Triphosphatases / Q000032:analysis; D000293:Adolescent; D000870:Anterior Horn Cells; D001176:Arthrogryposis / Q000378:metabolism / Q000473:pathology; D001927:Brain Diseases / Q000150:complications; D002648:Child; D003094:Collagen / Q000096:biosynthesis; D003238:Connective Tissue / Q000473:pathology; D006801:Humans; D006965:Hyperplasia; D008297:Male; D009124:Muscle Proteins / Q000096:biosynthesis; D009132:Muscles / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D009136:Muscular Dystrophies / Q000151:congenital; D013118:Spinal Cord Diseases / Q000150:complications; D013126:Spinal Nerve Roots / Q000473:pathology
D009124:Muscle Proteins; D003094:Collagen; D000251:Adenosine Triphosphatases
Etude de deux cas d'arthrogrypose