Axonal dystrophy in a case of connatal thalamic and brain stem degeneration

A neonate with a rapidly fatal disease characterized by connatal hypertonia and arthrogryposis multiplex is described. Neuropathological investigations revealed bilateral thalamus and brain stem degeneration, axonal degeneration of pyramidal and other tracts in the spinal cord, and axonal spheroids in areas of origin of lower motor neurons and in the brain stem reticular substance. Congenital thalamic and brain stem degeneration is generally assumed to be the result of intrauterine asphyxia. The widespread occurrence of axonal spheroids in the present neonate points to the possibility of a genetic or toxic origin for at least some of these cases.