Giant Axonal Neuropathy: Clinical and Pathological Study of a Rare Case

Giant axonal neuropathy (GAN) is a rare, relatively rapidly progressive hereditary neuropathy culminating into death by second or third decade. Simple clinical clues in general physical examination can aid in diagnosis of this rare disease. We report an 11-year-old Hindu male, born out of non-consanguineous marriage, full term, with delayed motor milestones who presented with progressive sensorimotor lower motor neuron type quadriparesis (distal more than proximal) with atrophy, skeletal deformities, cranial nerve and cerebellar dysfunction, macrocephaly and dysmorphic features without any history of similar illness in his family. He had tightly curled hair while none of his parents had such hair. The patient had been wheelchair bound for past 2 years. His tightly curled hair clinched the diagnosis of giant axonal neuropathy which was confirmed by sural nerve biopsy. We are reporting this case because of rarity. So far only 54 cases have been reported worldwide.