Abidi Kamal T, Kamal Naglaa M, Bakkar Ayman A, Almarri Saad, Abdullah Rehab, Alsufyani Maram, Alharbi Arwa
Associate Professor of Pediatrics and Pediatric Nephrology. Faculty of Medecine, Al Manar University, Tunis, Tunisia.
Professor of Pediatrics and Pediatric Hepatology, Pediatric Department, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt.
Medicine (Baltimore). 2020 Oct 23;99(43):e22302. doi: 10.1097/MD.0000000000022302.
Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing. It is caused by mutations in Ectopic P-granules protein 5 gene, which is responsible for regulating autophagy activity.
We report a 6-month-old Saudi female patient who was the second-born baby of first cousins. She was born by normal spontaneous vertex vaginal delivery. Parents noticed that she had global developmental delay and recurrent hospital admissions due to chest infections.
Brain magnetic resonance imaging showed brain atrophy with corpus callosum agenesis. Ophthalmology examination revealed bilateral congenital cataract. Molecular genetic testing identified the pathogenic homozygous variant c.4751T>A p. (Leu1584*) on exon 27 of the EPG5 gene and confirmed the diagnosis of Vici syndrome.
Supportive multidisciplinary care plan was initiated to this untreatable syndrome.
The patient died at the age of 6 months due to sepsis with uncompensated septic shock.
VICIS is a rare untreatable disorder with worldwide distribution. High index of suspicion is needed to diagnose it and family genetic counselling is crucial.
维西综合征（VICIS）是一种罕见的常染色体隐性神经发育障碍，累及多系统，其特征为胼胝体发育不全、先天性白内障、心肌病、联合免疫缺陷、严重发育迟缓、色素减退，部分病例伴有听力丧失。它由异位P颗粒蛋白5基因突变引起，该基因负责调节自噬活性。
我们报告一名6个月大的沙特女性患者，她是近亲结婚的表亲所生的第二个孩子。她通过正常自然头位阴道分娩出生。父母注意到她存在全面发育迟缓，且因胸部感染反复住院。
脑部磁共振成像显示脑萎缩伴胼胝体发育不全。眼科检查发现双侧先天性白内障。分子基因检测在EPG5基因第27外显子上鉴定出致病性纯合变异c.4751T>A p.（Leu1584*），确诊为维西综合征。
针对这种无法治疗的综合征启动了多学科支持性护理计划。
患者于6个月大时因败血症伴失代偿性感染性休克死亡。
维西综合征是一种罕见的无法治疗的疾病，在全球范围内均有发生。诊断需要高度怀疑指数，家庭遗传咨询至关重要。
