Giant Axonal Neuropathy: Clinical and Pathological Study of a Rare Case
Asian Journal of Research and Reports in Neurology · pp. 181–184 · Published 16 Nov 2023
Abstract
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.
Cited by 0
No indexed citations yet.
Related research
- Organophosphorus Plant Growth Regulators Provides High Activity Complex I Mitochondrial Respiratory Chain Pisum sativum L Seedlings in Conditions Insufficient Moisture — shares topic coverage
- Combined Effect of Insufficient Watering, Moderate Cooling, and Organophosphorous Plant Growth Regulator on the Morphology and Functional Properties of Pea Seedling Mitochondria — shares topic coverage
- Induction of Mitochondrial-Mediated Apoptosis by Solvent Fractions of Methanol Extract of Heliotropium indicum in Rat Liver Cells — shares topic coverage
- Evaluation of the Effects of Fractions of Jatropha curcas (Linn) Leaves on Mitochondrial Permeability Transition in Rat Liver — shares topic coverage
- The Role of Reactive Oxygen Species in Initiation and Progression of Periodontal Diseases — shares topic coverage
Article metrics
Real usage data collected on this platform.
0
Page views
0
PDF downloads
0
Outbound clicks
0
Citations
Views by country
Approximate, from request IP at view time — not citizenship or institution. Countries with fewer than 5 views are grouped as "Other".
No views recorded yet.
Traffic sources
Referring site, by host.
No traffic recorded yet.
Views and downloads exclude known bots/crawlers. Citations combines this platform's own DOI-resolved index with each external source's own reported total — see Cited by above for individually listed citing works. Last refreshed 0 seconds ago.