[Giant axonal neuropathy. A case report]

We report a sporadic case of giant axonal neuropathy (GAN) starting in a 5-year-old boy with gait disturbance. At the age of 10 years he showed signs of a sensomotoric polyneuropathy and central neurological symptoms: intention tremor, nystagmus and visual disturbance. The boy also had curly hair. Sural nerve biopsy showed many giant axons with accumulation of microfilaments, which were also found in cytoplasma of Schwann cells, endothelial cells and fibrocytes. Similar changes were detected in endothelial cells of a muscle biopsy, which additionally displayed neurogenic atrophy and target fibers. Immunohistochemically, desmin, vimentin, heat shock protein 70, and ubiquitin were not detectable in giant axons, which, however, contained neurofilament protein 68, 200 and beta-tubulin. Our case shows that careful ultrastructural examination of a muscle biopsy may point to the diagnosis of GAN.