摘要
目的报道1例PNPLA6基因突变导致的Boucher-Neuhauser综合征(BNS)病例。方法收集1例复旦大学附属华山医院遗传与运动障碍门诊就诊并经临床、影像学表现,实验室检查、基因检测确诊为BNS病例,于CNKI、PubMed数据库检索既往报道的BNS相关文献,结合病例临床资料进行讨论。结果患者男性,49岁,因“行走不稳48年余,加重3年”就诊。头颅MRI见:小脑萎缩,双侧视神经轻度增粗。基因检测示:PNPLA6基因复合杂合突变:c.1416C>A(p.Y472*),c.4045C>T(p.R1349W)。结论BNS临床罕见,起病隐匿,临床表现或影像学表现异质性较大,诊断困难;有行走不稳、视力下降、视野缺损、生长发育迟缓、性功能障碍、不孕症等,以小脑性共济失调、视网膜脉络膜变性、促性腺功能减退三联征为主要临床表现的患者应考虑BNS可能。
Aim To report a case of Boucher-Neuhauser(BNS)syndrome caused by PNPLA6 gene mutation.Methods A patient diagnosed with BNS by clinical manifestations,imaging manifestations,laboratory examination and gene detection was collected from the outpatient department of Huashan Hospital.The literature on BNS disease reported in CNKI and PubMed was reviewed.Results The patient,male,49 years old,was admitted to Huashan Hospital due to“walking instability for 48 years and aggravation for 3 years”.Skull MRI showed cerebellar atrophy and slight thickening of bilateral optic nerves.Genetic test showed that PNPLA6 gene complex heterozygous mutation:c.1416C>A(p.Y472*),c.4045C>T(p.R1349W).Conclusion BNS is rare with occult onset and similar clinical or imaging manifestations.Diagnosis is difficult.BNS can be considered for diseases characterized by the triad of cerebellar dysplasia,retinochoroidal degeneration and hypogonadotropism,such as walking instability,visual loss,visual field loss,growth retardation,sexual dysfunction,and infertility.
作者
程妍
章悦
卫杰
顾超
CHENG Yan;ZHANG Yue;WEI Jie;GU Chao(Longhua Hospital Affiliated to Shanghai University of Traditional Chinese Medicine,Shanghai 200032,China;Department of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China;Huashan Rare Disease Center,Shanghai 200040,China;The 905th Hospital of the People’s Liberation Army Navy,Shanghai 200050,China)
出处
《中国临床神经科学》
2025年第2期221-229,235,共10页
Chinese Journal of Clinical Neurosciences
基金
上海市科委国内科技合作项目(编号:22015820900)。
