NEUROAXONAL DYSTROPHY AT BIRTH WITH HYPERTONICITY AND BASAL GANGLIA MINERALIZATION

A full-term male infant exhibited rigidity of all extremities with hyp erreflexia beginning soon after birth and lasting until his death at a ge 6 months. Head circumference remained at the 25th to 50th percentil e. Distinct sleep-wake cycles and responsiveness to visual, auditory, and tactile stimuli developed. Metabolic studies, skin biopsy, electro encephalography, and electromyography produced normal results. Head co mputed tomographic and magnetic resonance imaging scans revealed miner alization of the basal ganglia and thalamus. Muscle and nerve biopsy r esults were consistent with axonal dystrophy. Autopsy showed widesprea d neuronal loss, with reactive gliosis, marked in the globus pallidus and brainstem reticulate core; spheroids in globus pallidus, nucleus c uneatus, and upper cervical cord; and mineralized neurons in the inner division of globus pallidus and thalamus. Neonatal hypertonia, rapid progression, and mineralization of the basal ganglia are unusual featu res of neuroaxonal dystrophy exhibited in this case.