Vici Syndrome with a Novel Mutation in EPG5
Indian Pediatr
;
2019 Jul; 56(7): 603-606
Artigo
| IMSEAR
| ID: sea-199357
ABSTRACT
Background:
Vici syndrome is a neurodevelopmental disorder of the autophagy pathway.Almost all cases reported have the cardinal features of agenesis of corpus callosum,cataract, cardiomyopathy, immunodeficiency and hypopigmentation. Casecharacteristics 8-month-old boy with developmental delay, myoclonic jerks, repeatedrespiratory infections, coarse facial features, cataract and hypopigmented hair.Echocardiography revealed dilated cardiomyopathy and magnetic resonance imaging ofbrain suggested agenesis of corpus callosum. Exome sequencing detected a novelhomozygous nonsense mutation in the EPG5 gene.Outcome:
Establishing a definitediagnosis helped in proper prognostication, providing genetic counseling and prenataldiagnosis to the family. Message Though uncommon, presence of the characteristicfeatures makes Vici syndrome a clinically recognizable cause of developmental delay.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Tipo de estudo:
Estudo prognóstico
Revista:
Indian Pediatr
Ano de publicação:
2019
Tipo de documento:
Artigo
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