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Infantile Neuroaxonal Dystrophy in Two Cases: Siblings With Different Presentations Publisher



Ansari B1 ; Nasiri J2 ; Namazi H3 ; Sedghi M3 ; Afzali M4
Authors

Source: Iranian Journal of Child Neurology Published:2022


Abstract

Infantile neuroaxonal dystrophy (INAD) is a rare recessive neurodegenerative disorder manifested by symptoms like hypotonia, extrapyramidal signs, spastic tetraplegia, vision problems, cerebellar ataxia, cognitive complications, and dementia before the age of three. Various reports evaluated the relationship between the incidence of INAD and different mutations in the PLA2G6 gene. We described cases of two children with INAD whose diagnoses were challenging due to misleading findings and a mutation in the C.2370 T>G (p. Y790X) in the PLA2G6 gene based on NM_001349864, which has been reported previously. © 2022, Iranian Child Neurology Society. All rights reserved.
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