Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

Purpose. The objective of this study was to present and describe two additional patients diagnosed with Vici syndrome. Methods. Clinical, laboratory, and imaging findings of the two siblings are discussed in detail. The two patients' descriptions are compared with the other eleven patients rep...

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Main Authors: R. Curtis Rogers, Bridgette Aufmuth, Stephanie Monesson
Format: Article
Language:English
Published: Hindawi Limited 2011-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2011/421582
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spelling doaj-14f1587a48ab4dafb12d23ebb3e104ec2020-11-25T00:01:23ZengHindawi LimitedCase Reports in Genetics2090-65442090-65522011-01-01201110.1155/2011/421582421582Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual DisabilityR. Curtis Rogers0Bridgette Aufmuth1Stephanie Monesson2Greenwood Genetic Center, Greenville Office, 14 Edgewood Drive, Greenville, SC 29605, USAGreenwood Genetic Center, Greenville Office, 14 Edgewood Drive, Greenville, SC 29605, USAGreenwood Genetic Center, Greenville Office, 14 Edgewood Drive, Greenville, SC 29605, USAPurpose. The objective of this study was to present and describe two additional patients diagnosed with Vici syndrome. Methods. Clinical, laboratory, and imaging findings of the two siblings are discussed in detail. The two patients' descriptions are compared with the other eleven patients reported in the literature. We also presented detailed autopsy results on the male sibling, which demonstrated cytoplasmic vacuoles of the cardiomyocytes and confirmed the clinical findings. Results. The patients reported here include the 13th and 14th patients reported with Vici syndrome. The summary of findings present in these patients includes postnatal growth retardation, developmental delay, bilateral cataracts, agenesis of the corpus callosum, cerebellar anomalies, gyral abnormalities, seizures, hypotonia, and cardiomyopathy. Conclusion. Vici syndrome should be suspected in any child with agenesis of the corpus callosum and one of the following findings: cardiomyopathy, cataracts, immune deficiency, or cutaneous hypopigmentation.http://dx.doi.org/10.1155/2011/421582
collection DOAJ
language English
format Article
sources DOAJ
author R. Curtis Rogers
Bridgette Aufmuth
Stephanie Monesson
spellingShingle R. Curtis Rogers
Bridgette Aufmuth
Stephanie Monesson
Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability
Case Reports in Genetics
author_facet R. Curtis Rogers
Bridgette Aufmuth
Stephanie Monesson
author_sort R. Curtis Rogers
title Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability
title_short Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability
title_full Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability
title_fullStr Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability
title_full_unstemmed Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability
title_sort vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability
publisher Hindawi Limited
series Case Reports in Genetics
issn 2090-6544
2090-6552
publishDate 2011-01-01
description Purpose. The objective of this study was to present and describe two additional patients diagnosed with Vici syndrome. Methods. Clinical, laboratory, and imaging findings of the two siblings are discussed in detail. The two patients' descriptions are compared with the other eleven patients reported in the literature. We also presented detailed autopsy results on the male sibling, which demonstrated cytoplasmic vacuoles of the cardiomyocytes and confirmed the clinical findings. Results. The patients reported here include the 13th and 14th patients reported with Vici syndrome. The summary of findings present in these patients includes postnatal growth retardation, developmental delay, bilateral cataracts, agenesis of the corpus callosum, cerebellar anomalies, gyral abnormalities, seizures, hypotonia, and cardiomyopathy. Conclusion. Vici syndrome should be suspected in any child with agenesis of the corpus callosum and one of the following findings: cardiomyopathy, cataracts, immune deficiency, or cutaneous hypopigmentation.
url http://dx.doi.org/10.1155/2011/421582
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AT bridgetteaufmuth vicisyndromearareautosomalrecessivesyndromewithbrainanomaliescardiomyopathyandsevereintellectualdisability
AT stephaniemonesson vicisyndromearareautosomalrecessivesyndromewithbrainanomaliescardiomyopathyandsevereintellectualdisability
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