Two unusual cases of PLA2G6-associated neurodegeneration from India

Autor:	Shilpa D Kulkarni, Meenal Garg, Rafat Sayed, Varsha A Patil
Jazyk:	angličtina
Rok vydání:	2016
Předmět:	Infantile neuroaxonal dystrophy (INAD) neurodegeneration with brain iron accumulation (NBIA) neuroregression phospholipase A2-associated neurodegeneration (PLAN) Neurology. Diseases of the nervous system RC346-429
Zdroj:	Annals of Indian Academy of Neurology, Vol 19, Iss 1, Pp 115-118 (2016)
Druh dokumentu:	article
ISSN:	0972-2327 1998-3549
DOI:	10.4103/0972-2327.168641
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/e75c6ffb97944021a638f56c47e45f16 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF