neurogenic type of arthrogryposis multiplex congenita: a report of a neonatal fatal form

ABSTRACT

A female infant affected with the neurogenic type of arthrogryposis multiplex congenita is reported. Gross autopsy findings and histopathological observations are presented with particular reference to the skeletal muscles and the central nervous system. The most striking feature was fatty replacement of most muscles of the limbs. Microscopy of the spinal cord revealed degenerative changes of the anterior horn cells which suggests that the muscular changes were the outcome of neurogenic atrophy. Arthrogryposis multiplex congenita [AMC] is a syndrome of persistent joint contractures present at birth[1-3]. It was first described in 1841 by Otto who called it "congenital myodystrophy[4]". The term "arthrogryposis multiplex congenital", generally accepted at present, was first used by Stern[5] in 1923. Theories concerning the nature of the illness have been varied and contradictory. Analysis of pathological findings indicates that there are two fundamental mechanisms responsible for AMC, namely a neurogenic or a myogenic defect[6,7]