Abstract
Giant axonal neuropathy is a rare autosomal recessive neuro-degenerative disease with simple clinical clues. We describe an 11 year old boy with progressive difficulty in walking with recurrent falls. On examination he had characteristic frizzy curly hair with axonal motor sensory peripheral neuropathy, proximal myopathy, pyramidal and cerebellar signs. Imaging of brain revealed bilateral symmetrical cerebral and cerebellar white matter changes including brainstem and spinal cord. Sural nerve biopsy revealed giant axons of 50-100 microns with tightly packed neurofilaments.
Highlights
Giant axonal Neuropathy (GAN) is a rare childhood onset neurodegenerative disorder caused by accumulation of neurofilaments within the swollen axons [1]
Our patient was labelled with a diagnosis of ‘Giant axonal neuropathy’ (GAN) inview of its multiaxial nature of involvement based on classical clinical phenotype, imaging and pathological distinct features
Review of Literature- Giant axonal Neuropathy is a rare autosomal recessive neurodegenerative disease caused by mutations in GAN gene located on chromosome 16q24.1, encoding a protein ‘gigaxonin’, playing an important role in the regulation of turnover of Intermediate filaments
Summary
Giant axonal Neuropathy (GAN) is a rare childhood onset neurodegenerative disorder caused by accumulation of neurofilaments within the swollen axons [1] Both peripheral and central nervous system are affected [1,2,3], the commonest clinical manifestations are peripheral neuropathy, cerebellar ataxia, intellectual disability and pyramidal tract dysfunction. The hair texture was different from that of the parents and the sibling He had proximo-distal weaknesss of the limbs (distal > proximal) with stance ataxia and gait ataxia requiring support to stand.
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