Sultan Qaboos University, Muscat, Oman.
Department of Ophthalmology, Sultan Qaboos University, Muscat, Oman.
Ophthalmic Genet. 2021 Dec;42(6):780-783. doi: 10.1080/13816810.2021.1952621. Epub 2021 Jul 15.
To report the earliest diagnosis of Vici syndrome in a three-week-old Omani girl.
A three-week-old baby girl with blond hair and agenesis of the corpus callosum was born to consanguineous parents. An older sibling with similar findings had died at the age of six months with recurrent seizures and aspiration pneumonia without a diagnosis of the underlying systemic condition. After a standard ophthalmic and comprehensive systemic evaluation, full sequencing of the gene was carried out.
The findings of bilateral anterior polar cataracts and oculocutaneous albinism in the child with agenesis of corpus callosum raised a suspicion of Vici syndrome. Immunology, neurology, cardiology, and genetic consultations were requested and revealed the presence of immunodeficiency, psychomotor retardation, and hypertrophic cardiomyopathy. Full sequencing of the gene led to the detection of a homozygous c.6084 G > A (Trp2028Ter) mutation, confirming the diagnosis of Vici syndrome. Parental heterozygosity was confirmed. On follow-up, progressive microcephaly, failure to thrive, and significant developmental delay were noted, and a clinical decision not to resuscitate was made at the age of 22 months.
We report the earliest diagnosis of Vici syndrome in the literature. Ophthalmic findings are a cardinal feature of this condition. The diagnosis should be considered in infants with hallmark features of oculocutaneous albinism, cataracts, and agenesis of the corpus callosum. Vici syndrome has a very poor prognosis due to progressive neuroregression superimposed on the neurodevelopmental anomaly.
报告一例 3 周龄阿曼女孩患 Vici 综合征的首例诊断。
一名 3 周龄女婴，头发金黄，胼胝体发育不全，父母为近亲。一名有类似发现的年长同胞在 6 个月大时死于反复癫痫发作和吸入性肺炎，而未明确潜在的系统性疾病。在进行标准的眼科和全面系统评估后，对 基因进行了全序列分析。
该患儿存在双侧前极性白内障和胼胝体发育不全伴眼皮肤白化病，提示 Vici 综合征。免疫、神经、心脏和遗传会诊显示存在免疫缺陷、精神运动发育迟缓及肥厚型心肌病。 基因的全序列分析发现一个纯合 c.6084G > A（Trp2028Ter）突变，确诊为 Vici 综合征。证实父母为杂合子。随访时发现进行性小头畸形、生长不良和明显发育迟缓，并在 22 月龄时决定不进行复苏抢救。
我们报告了文献中首例 Vici 综合征的诊断。眼部表现是该病的一个重要特征。对于具有眼皮肤白化病、白内障和胼胝体发育不全特征的婴儿，应考虑诊断 Vici 综合征。由于神经发育异常加重进行性神经退行性变，Vici 综合征的预后极差。
