Clinical, Pathological and Imaging findings of Giant AxonalNeuropathy (GAN): report from India with review of literature anddifferential diagnosis
Journal Title: Pediatric Review: International Journal of Pediatric Research - Year 2017, Vol 4, Issue 1
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.
Authors and Affiliations
Shaik Afsar Pasha, D. Ankamma Rao, A. Padmaja, B. Anil, Anitha Mahadevan
Keywords
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- EP ID EP276563
- DOI 10.17511/ijpr.2017.01.09.
- Views 142
- Downloads 0
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