Infantile Neuroaxonal Dystrophy in Two Cases: Siblings with Different Presentations

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 rel...

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Detalles Bibliográficos
Autores principales: ANSARI, Behnaz, NASIRI, Jafar, NAMAZI, Hamide, SEDGHI, Maryam, AFZALI, Mahdieh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531199/
https://www.ncbi.nlm.nih.gov/pubmed/36204426
http://dx.doi.org/10.22037/ijcn.v16i2.30864
Descripción
Sumario: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.

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