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Vici Syndrome with a Novel Mutation in EPG5.
- Source :
-
Indian pediatrics [Indian Pediatr] 2019 Jul 15; Vol. 56 (7), pp. 603-605. - Publication Year :
- 2019
-
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.<br />Case Characteristics: 8-month-old boy with developmental delay, myoclonic jerks, repeated respiratory infections, coarse facial features, cataract and hypopigmented hair. Echocardiography revealed dilated cardiomyopathy and magnetic resonance imaging of brain suggested agenesis of corpus callosum. Exome sequencing detected a novel homozygous nonsense mutation in the EPG5 gene.<br />Outcome: Establishing a definite diagnosis helped in proper prognostication, providing genetic counseling and prenatal diagnosis to the family.<br />Message: Though uncommon, presence of the characteristic features makes Vici syndrome a clinically recognizable cause of developmental delay.
- Subjects :
- Aftercare methods
Child, Preschool
Diagnosis, Differential
Genetic Testing
Humans
Immunologic Deficiency Syndromes diagnosis
Infant
Magnetic Resonance Imaging methods
Male
Mutation
Siblings
Agenesis of Corpus Callosum diagnosis
Agenesis of Corpus Callosum genetics
Agenesis of Corpus Callosum physiopathology
Autophagy-Related Proteins genetics
Brain diagnostic imaging
Cataract diagnosis
Cataract genetics
Cataract physiopathology
Developmental Disabilities diagnosis
Developmental Disabilities genetics
Lysosomal Storage Diseases diagnosis
Vesicular Transport Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0974-7559
- Volume :
- 56
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Indian pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 31333218