Introduction: Giant axonal neuropathy (GAN) is a severe autosomal recessive childhood disorder affecting both the peripheral and the central nervous system. The classical MRI brain findings include diffuse cerebral and cerebellar atrophy with white matter changes. We report the clinical, pathological and the unusual neuro-imaging findings in two families with GAN.

Methods: The clinical records of two families with affected children with GAN were reviewed and reported.

Results: In family-1, the index case presented at 8 years of age with global developmental delay, worsening gait abnormalities, poor school performance, no seizures with normal vision and hearing. Examination showed curly hair, spastic diplegia with absent reflexes. Fundus showed optic atrophy and retinitis-pigmentosa. His twin-sister had similar but milder phenotype. An elder sibling died at 16 years of age with similar illness. The MRI Brain showed T2/FLAIR hyperintensities in bilateral cerebellar dentate nuclei and internal-capsule In family-2, the index case presented at 8 years of age with clinical phenotype similar to the index case of family 1 except for hypotonia. The nerve conduction studies revealed sensori-motor axonal-neuropathy. The MRI-Brain showed T2/FLAIR hyperintensities in bilateral cerebellar dentate nuclei and globus pallidii. The diagnosis of GAN was based on the clinical phenotype, neuroimaging and the nerve biopsy. The nerve biopsy in both the cases revealed several giant-axons dispersed within the fascicles, variably labelled by NF-protein.

Conclusions: These cases further expand the neuroiamging spectrum seen in children with GAN.