An Autopsied Case of Infantile Neuroaxonal Dystrophy

Abstract

The patient was a girl whose parents were consanguineous. She showed developmental retardation with progressive dysfunction of the motor system soon after birth, and died at 3 years and 10 months of age.
The major clinical findings at 2 years and 11 months of age were loss of hearing and speech, hypotonia of skeletal muscle, absence of tendon reflexes, loss of pain sensation, and optic atrophy.
The EEG showed spike and wave, and PEG showed slight dilatation of the lateral ventricles.
The pathological examination revealed numerous spheroids in tegumentum of the brain stem and posterior horn of the spinal cord, and abundant pale eosinophilic bodies in the cerebral cortex, basalganglia, thalamus and hypothalamus.
Large histiocytes were noted in the spleen and lymphnodes, and Kupffer's cells in the liver were also hypertrophic.
These cells had eosinophilic and PAS-positive granular materials in the cytoplasm.