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

R. CurtisRogers; BridgetteAufmuth; StephanieMonesson

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

机译：维西综合症：罕见的常染色体隐性遗传综合症，伴有大脑异常，心肌病和严重智力障碍

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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.

机译：目的。这项研究的目的是介绍并描述另外两名被诊断为Vici综合征的患者。详细讨论了两个兄弟姐妹的临床，实验室和影像学检查结果。将两名患者的描述与文献中报道的其他十一名患者进行比较。我们还提供了有关男性同胞的详细尸检结果，这些结果证明了心肌细胞的胞质液泡并证实了临床发现。这里报道的患者包括第13和第14例患有Vici综合征的患者。这些患者的发现包括出生后发育迟缓，发育迟缓，双侧白内障，call体发育不全，小脑异常，回旋畸形，癫痫发作，肌张力低下和心肌病。任何患有call体发育不全且具有以下发现之一的儿童都应怀疑维西综合症：心肌病，白内障，免疫缺陷或皮肤色素沉着。

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《Case Reports in Genetics》 |2011年第1期|共4页
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R. CurtisRogers; BridgetteAufmuth; StephanieMonesson;
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中图分类临床医学;
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机译：KIF16B KIF16B是一种新型常血糖隐性智力残疾综合征的候选基因
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3. Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID) [J] . Shamim Saleha, Muhammad Sajid, Shaista Zafar, Central European Journal of Biology . 2017,第1期

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4. Cochlear implantation in cases with congenital deformations and rare genetic syndromes: Goldenhar and Branchio-Oculo-Facial [C] . Porowski M., Skarzynski H., Mrowka M., European Symposium on Paediatric Cochlear Implantation . 2011

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5. In search of a novel autosomal recessive cause of non syndromic intellectual disability. [D] . Saleh, Shamsah H. 2015

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6. Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies Cardiomyopathy and Severe Intellectual Disability [O] . R. Curtis Rogers, Bridgette Aufmuth, Stephanie Monesson 2011

机译：维西综合症：罕见的常染色体隐性遗传综合症伴有大脑异常心肌病和严重智力障碍
7. Vici syndrome: A rare autosomal recessive syndrome in Yamani infant [O] . Maha Alotaibi, Yousef Alotaibi, Afnan Alghamdi, 2018

机译：vici综合征：yamani婴儿的稀有常染色体隐性综合征

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

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