Vici syndrome is a severe inherited multisystem disease caused by mutations in the EPG5 gene. The diagnosis depends on the constellation of cardinal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency followed by confirmation by genetic testing. We report an Egyptian infant with Vici syndrome carrying a homozygous splice site variant (c.1252+1G>T; NM_020964.2) in the EPG5 gene, detailed clinical description, outcome, and differential diagnosis of inherited hypopigmentation disorders associated with neurological manifestations. The infant initially presented with oculocutaneous hypopigmentation, agenesis of the corpus callosum, and immunodeficiency. A few months later, a diagnosis of dilated cardiomyopathy was made. Family history revealed 2 deceased siblings phenotypically matching our index infant. He died at the age of 15 months with acute respiratory failure. The accurate diagnosis of such rare diseases with genetic confirmation is vital for proper clinical decision-making, genetic counseling of the affected families, and future genotype-phenotype correlation studies.

中文翻译：

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埃及婴儿的 Vici 综合征：遗传性色素减退症的病例报告和鉴别诊断

Vici 综合征是一种由 EPG5 基因突变引起的严重遗传性多系统疾病。诊断取决于胼胝体发育不全、白内障、眼皮肤色素减退、心肌病和联合免疫缺陷等一系列主要特征，然后通过基因检测进行确认。我们报告了一名患有 Vici 综合征的埃及婴儿，在 EPG5 基因中携带纯合剪接位点变异（c.1252+1G>T；NM_020964.2）、详细的临床描述、结果和与神经系统表现相关的遗传性色素减退障碍的鉴别诊断。婴儿最初表现为眼皮肤色素减退、胼胝体发育不全和免疫缺陷。几个月后，诊断为扩张型心肌病。家族史显示 2 个已故兄弟姐妹的表型与我们的索引婴儿相匹配。他在 15 个月大时死于急性呼吸衰竭。通过基因确认准确诊断此类罕见疾病对于正确的临床决策、受影响家庭的遗传咨询以及未来的基因型-表型相关研究至关重要。