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A case of giant axonal neuropathy in a 8 years old child is reported by light and electron microscopy. Clinically, this case is strikingly similar to the rare previous reports and characterized by a distal neuropathy, CNS symptoms and tightly curled hair. Giant axons were found in the sural nerve but had been absent at the onset of the illness. An increase in the number of neurofilaments was found in the axons and neurons of the myenteric plexus. The number of microfilaments was also increased in various types of cells namely Schwann and endothelial cells and fibroblasts: This suggests that the metabolic disorder, probably inborn and genetic, does not only affect the nervous system.
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