Abstract：
Urofacial syndrome or Ochoa syndrome (UFS or UFOS) is a rare disease characterized by inverted facial expression and bladder dysfunction that was described for the first time in Colombia. It is an autosomal recessive pathology with mutations in the HPSE2 and LRIG2 genes. However, 16% of patients do not have any mutations associated with the syndrome. Despite the importance of neurobiology in its pathophysiology, there are no neurological, neuropsychological, or psychological studies in these patients. A 30-year-old male from Medellín, Colombia, with a significant perinatal history, was diagnosed with grade 4 hydronephrosis on his first ultrasound test. At 4 months of age, symptoms such as hypomimia, lagophthalmos, and recurrent urinary tract infections started to manifest. Imaging studies revealed urinary tract dilatation, vesicoureteral reflux, and a double collector system on his left side, which led to the diagnosis of UFS. Multiple procedures, including vesicostomy, ureterostomy, and enterocystoplasty, were performed. At 20 years of age, he achieved urinary sphincter control. Genetic analysis revealed a founder pathogenic variant, c.1516C > T (p.Arg506Ter), in the HPSE2 gene, which produces a truncated protein that lacks 86 amino acids. This variant is classified as pathogenic according to the ClinVar database for UFS. The mutation age is approximately 260-360 years, and the two alleles share a 7.2-7.4 Mb IBD segment. Moreover, we detected European local ancestry in the IBD segment, which is consistent with a Spanish introduction. Neurological examination, neuropsychological assessment, and psychological testing revealed no abnormalities, except for high stress levels. Clinical analysis of this patient revealed distorted facial expression and detrusor-sphincter dyssynergia, which are typical of patients with UFS. Genetic analysis revealed a pathogenic variant in the HPSE2 gene of European origin and a mutation age of 260-360 years. From a neurological, neuropsychological, and psychological (emotional and personality) perspective, the patient showed no signs or symptoms of clinical interest.
摘要：
尿面部综合征或Ochoa综合征（UFS或UFOS）是一种罕见的疾病，其特征是面部表情倒置和膀胱功能障碍，在哥伦比亚首次被描述。它是HPSE2和LRIG2基因突变的常染色体隐性遗传病理学。然而,16%的患者没有任何与该综合征相关的突变。尽管神经生物学在其病理生理学中的重要性，没有神经，神经心理学，或对这些患者进行心理研究。一名来自麦德林的30岁男性,哥伦比亚,有显著的围产期病史，第一次超声检查被诊断为4级肾积水.在4个月大的时候，症状，如轻症，眼球，反复尿路感染开始显现。影像学检查显示尿路扩张,膀胱输尿管反流,在他的左边有一个双收集器系统,这导致了UFS的诊断。多个程序，包括膀胱造口术,输尿管造口术,和肠膀胱成形术，被执行了。20岁时,他实现了尿道括约肌控制。基因分析揭示了一个创始人的致病变异，c.1516C>T（p。Arg506Ter),在HPSE2基因中，它产生一种缺少86个氨基酸的截短蛋白。根据用于UFS的ClinVar数据库,该变体被分类为致病性的。突变年龄约为260-360岁,这两个等位基因共有7.2-7.4MbIBD片段。此外，我们在IBD部分发现了欧洲本地血统，这与西班牙的介绍是一致的。神经系统检查,神经心理学评估，心理测试显示没有异常，除了高压力水平。该患者的临床分析显示面部表情扭曲和逼尿肌括约肌协同失调，这是典型的UFS患者。遗传分析显示，欧洲起源的HPSE2基因存在致病性变异，突变年龄为260-360岁。从神经学的角度来看，神经心理学，和心理（情感和个性）的观点，患者未出现有临床意义的体征或症状.
