Two unusual cases of PLA2G6-associated neurodegeneration from India

Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxonal dystrophy (INAD). Only 1 case of INAD has been...

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Detalles Bibliográficos
Autores principales: Kulkarni, Shilpa D., Garg, Meenal, Sayed, Rafat, Patil, Varsha A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782527/
https://www.ncbi.nlm.nih.gov/pubmed/27011642
http://dx.doi.org/10.4103/0972-2327.168641
Descripción
Sumario:Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxonal dystrophy (INAD). Only 1 case of INAD has been reported from India till now. We report two genetically confirmed patients seen at a tertiary care pediatric hospital. Both these patients presented with infantile onset of neuroregression. We believe that INAD is underrecognized and underreported from India.

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