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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
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Authors Affiliations
  1. 1. Isfahan Neuroscience Research Center, Al-Zahra Hospital Research Institute, Department of Pediatric Neurology, Isfahan University of Medical Science, Isfahan, Iran
  2. 2. Department of Pediatric Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Medical Genetics Laboratory, Al-Zahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
  4. 4. Department of Neurologist, School of Medicine, Yas Hospital, Tehran University of Medical Sciences, Tehran, Iran

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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