Infantile neuroaxonal dystrophy

Abstract

Three cases of infantile neuroaxonal dystrophy occurring in femalc siblings are described, and the clinical and pathologic findings in this disorder are reviewed, Results of enzyme histochemistry on splnal cord are reported. The clinical course of the disease is distinctive, with onset between ages 1 and 3 years in a previously well child. Progressive loss of motor functions occurs due to a combination of pyramidal tract disease and denervation of muscle. Loss of pain sensation over the lower extremities and trunk may be an early finding. Nystagmus is usually present. Optic atrophy and blindness occur late. Death usually occurs before age 12 years. Several laboratory tests may be of value in the clinical diagnosis of the disease. The eeg has shown diffuse fast activity in most cases examined. Electromyography shows partial denervation of skeletal muscles, especially in the lower extremities. Serum levels of lactic dehydrogenase and transaminase are elevated. The neuropathology and enzyme histochemistry show resemblance to the findings in experimental and clinical vitamin E deficiency states. However, in the present cases no clinical evidence was found for vitamin E deficiency or for response to therapy with large doses of vitamin E.