Arthrogryposis multiplex congenita: an autopsy case of a fatal form.

ABSTRACT

A case of a severe and fatal form of arthrogryposis multiplex congenita with a full necropsy examination is presented in which the central nervous system and many muscles of the four extremities were examined histologically. The most striking feature was a great reduction in the muscular tissue of the limbs with a marked increase in the adipose tissue. The muscular changes were thought to be caused by neurogenic atrophy, and microscopy of the spinal cord revealed developmental abnormalities, including degenerative changes of the anterior horn cells. Neonatal and fatal cases of arthrogryposis multiplex congenita reported in the literature are briefly reviewed, and the characteristics of the present case and its relation to other congenital neuromuscular disorders are discussed.