小脑疣发育不全的临床特点,少精神分裂,共济失调,结肠瘤,肝纤维化（COACH）是罕见的常染色体隐性遗传多系统疾病的特征，称为COACH综合征。COACH综合征属于Joubert综合征及相关疾病（JSRD）的范围，肝脏受累将COACH综合征与其他JSRD谱区分开。发育延迟和动眼失用症早期发生，但随着时间的推移，这些可以改善，并且可能不明显或不再需要积极的医疗管理。先天性肝纤维化和肾脏疾病，另一方面,可能发展较晚，器官系统受累的时间不协调可能会延迟对COACH综合征的认识。我们介绍了一例年轻的成年人，该患者晚期到肾遗传学诊所就诊，以评估先天性肝纤维化的肾囊性疾病，临床怀疑有常染色体隐性遗传性多囊肾病。基因检测后,从婴儿期开始重新评估他的医疗记录,连同反向表型和遗传定相，导致COACH综合征的诊断。
The clinical features of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis (COACH) characterize the rare autosomal recessive multisystem disorder called COACH syndrome. COACH syndrome belongs to the spectrum of Joubert syndrome and related disorders (JSRDs) and liver involvement distinguishes COACH syndrome from the rest of the JSRD spectrum. Developmental delay and oculomotor apraxia occur early but with time, these can improve and may not be readily apparent or no longer need active medical management. Congenital hepatic fibrosis and renal disease, on the other hand, may develop late, and the temporal incongruity in organ system involvement may delay the recognition of COACH syndrome. We present a case of a young adult presenting late to a Renal Genetics Clinic for evaluation of renal cystic disease with congenital hepatic fibrosis, clinically suspected to have autosomal recessive polycystic kidney disease. Following genetic testing, a reevaluation of his medical records from infancy, together with reverse phenotyping and genetic phasing, led to a diagnosis of COACH syndrome.
