title: Two unusual cases of PLA2G6-associated neurodegeneration from India.
abstract: 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.
authors.affiliation: Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India.
authors.forename: Shilpa D
authors.initials: SD
authors.lastname: Kulkarni
authors.affiliation: Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India.
authors.forename: Meenal
authors.initials: M
authors.lastname: Garg
authors.affiliation: Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India.
authors.forename: Rafat
authors.initials: R
authors.lastname: Sayed
authors.affiliation: Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India.
authors.forename: Varsha A
authors.initials: VA
authors.lastname: Patil
keywords: Infantile neuroaxonal dystrophy (INAD); neurodegeneration with brain iron accumulation (NBIA); neuroregression; phospholipase A2-associated neurodegeneration (PLAN)