neurodegeneration with brain iron accumulation 2A; infantile neuroaxonal dystrophy; Seitelberger disease
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Pathology
- neurodegenerative disorder
- pathologic axonal swelling
- spheroid bodies in the central nervous system
- cerebellar atrophy
Genetics
- associated with defects in PLA2G6
Clinical manifestations
- onset is generally within the first 2 years of life
- mental retardation
- paralysis
- epilepsy
- death generally by age 10 years