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A Saudi Infant with Vici Syndrome: Case Report and Literature Review
INTRODUCTION: Vici syndrome, a rare autosomal recessive disorder, was first described in 1988 by Vici et al. Only 78 cases have been reported to date. The syndrome is characterised by agenesis of the corpus callosum, hypopigmentation, cardiomyopathy, progressive failure to thrive, dysmorphic feature...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Republic of Macedonia
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026433/ https://www.ncbi.nlm.nih.gov/pubmed/29983806 http://dx.doi.org/10.3889/oamjms.2018.271 |
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author | Alzahrani, Alhussain Alghamdi, Abdulrahman Abdullah Waggass, Rahaf |
author_facet | Alzahrani, Alhussain Alghamdi, Abdulrahman Abdullah Waggass, Rahaf |
author_sort | Alzahrani, Alhussain |
collection | PubMed |
description | INTRODUCTION: Vici syndrome, a rare autosomal recessive disorder, was first described in 1988 by Vici et al. Only 78 cases have been reported to date. The syndrome is characterised by agenesis of the corpus callosum, hypopigmentation, cardiomyopathy, progressive failure to thrive, dysmorphic features, immunodeficiency and cataracts. Mutations in the gene epg5 have been identified as the cause of Vici syndrome. CASE DESCRIPTION: The parents are a consanguineous Saudi couple with two other children diagnosed with Gaucher disease. The patient was born at term and in the first 5 months had many hospital admissions for a recurrent chest infection. Physical examination, investigations and imaging studies revealed that the patient had agenesis of the corpus callosum, cataracts, psychomotor delay, immunodeficiency and hypopigmentation. The initial echocardiogram was normal. At 7 months, genetic testing confirmed the diagnosis of Vici syndrome with a c.3693G>Ap (Gln1231Gln) mutation in the gene EPG5. The patient developed a chest infection and was admitted to the pediatric intensive care unit. An echocardiogram was repeated and showed significant left ventricular dilation with a Z-score of 3.1, moderate mitral and tricuspid regurgitation, and depressed ventricular function with a fractional shortening of 17% and ejection fraction 37%. The patient’s condition deteriorated, and he died aged 8 months. CONCLUSION: The symptoms of extensive system involvement in Vici syndrome have been present in the majority of reported cases and should prompt careful evaluation of this syndrome when such symptoms are present in an infant. In confirmed cases, close monitoring of the immune status and cardiac function, the two main causes of death among Vici syndrome patients, is vital to prevent rapid deterioration and improve life expectancy. |
format | Online Article Text |
id | pubmed-6026433 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Republic of Macedonia |
record_format | MEDLINE/PubMed |
spelling | pubmed-60264332018-07-06 A Saudi Infant with Vici Syndrome: Case Report and Literature Review Alzahrani, Alhussain Alghamdi, Abdulrahman Abdullah Waggass, Rahaf Open Access Maced J Med Sci Case Report INTRODUCTION: Vici syndrome, a rare autosomal recessive disorder, was first described in 1988 by Vici et al. Only 78 cases have been reported to date. The syndrome is characterised by agenesis of the corpus callosum, hypopigmentation, cardiomyopathy, progressive failure to thrive, dysmorphic features, immunodeficiency and cataracts. Mutations in the gene epg5 have been identified as the cause of Vici syndrome. CASE DESCRIPTION: The parents are a consanguineous Saudi couple with two other children diagnosed with Gaucher disease. The patient was born at term and in the first 5 months had many hospital admissions for a recurrent chest infection. Physical examination, investigations and imaging studies revealed that the patient had agenesis of the corpus callosum, cataracts, psychomotor delay, immunodeficiency and hypopigmentation. The initial echocardiogram was normal. At 7 months, genetic testing confirmed the diagnosis of Vici syndrome with a c.3693G>Ap (Gln1231Gln) mutation in the gene EPG5. The patient developed a chest infection and was admitted to the pediatric intensive care unit. An echocardiogram was repeated and showed significant left ventricular dilation with a Z-score of 3.1, moderate mitral and tricuspid regurgitation, and depressed ventricular function with a fractional shortening of 17% and ejection fraction 37%. The patient’s condition deteriorated, and he died aged 8 months. CONCLUSION: The symptoms of extensive system involvement in Vici syndrome have been present in the majority of reported cases and should prompt careful evaluation of this syndrome when such symptoms are present in an infant. In confirmed cases, close monitoring of the immune status and cardiac function, the two main causes of death among Vici syndrome patients, is vital to prevent rapid deterioration and improve life expectancy. Republic of Macedonia 2018-06-13 /pmc/articles/PMC6026433/ /pubmed/29983806 http://dx.doi.org/10.3889/oamjms.2018.271 Text en Copyright: © 2018 Alhussain Alzahrani, Abdulrahman Abdullah Alghamdi, Rahaf Waggass http://creativecommons.org/licenses/CC BY-NC/4.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0). |
spellingShingle | Case Report Alzahrani, Alhussain Alghamdi, Abdulrahman Abdullah Waggass, Rahaf A Saudi Infant with Vici Syndrome: Case Report and Literature Review |
title | A Saudi Infant with Vici Syndrome: Case Report and Literature Review |
title_full | A Saudi Infant with Vici Syndrome: Case Report and Literature Review |
title_fullStr | A Saudi Infant with Vici Syndrome: Case Report and Literature Review |
title_full_unstemmed | A Saudi Infant with Vici Syndrome: Case Report and Literature Review |
title_short | A Saudi Infant with Vici Syndrome: Case Report and Literature Review |
title_sort | saudi infant with vici syndrome: case report and literature review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026433/ https://www.ncbi.nlm.nih.gov/pubmed/29983806 http://dx.doi.org/10.3889/oamjms.2018.271 |
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