[Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome].

Objective: To investigate the clinical features, laboratory characteristics and genetic diagnosis of Kabuki syndrome (KS). Methods: Between September 2014 and September 2016, seven children with clinically diagnosed KS from the neurology department, Beijing Children Hospital, Capital Medical University were included in this study. Three of them were male and 4 were female aged from 19 days to 6 years and 4 months with a median age of 3 years and 1 month. The clinical features, laboratory and imaging materials, gene tests were analyzed prospectively. Results: Clinical manifestation: cephalofacial anomaly: all seven cases had unusual facies presented as long palpebral fissures, eversion of the lateral third of lower eyelids, arched eyebrow with brow sparse, epicanthus, orbital hypertelorism, short columella with broad and depressed nasal tip; six cases presented with palatal arch deformity; four cases presented with ptosis; three cases presented with dental abnormalities and hearing impairment respectively; two cases presented with strabismus and earlap malformation respectively; one case presented with amblyopia. Six cases presented with skeletal anomalies. Six cases presented with dermatoglyphic anomalies. All cases presented with mild to moderate mental retardation. Three cases presented with short stature. Four cases presented with cardiac abnormalities. Three cases presented with epileptic seizures. Others: three cases presented with dystonia and neonatal hyperbilirubinemia respectively; two cases presented with feeding problem and hypoglycemia respectively; one case presented with micropenis and fetal finger pads respectively. All seven patients received magnetic resonance imaging (MRI) tests, and none demonstrated an abnormal finding. Five patients received electroencephalogram (EEG) tests, and three of them presented with seizures and EEG abnormalities. Five patients received genetic testing and all presented with KMT2D heterozygous mutations which were new mutations proved by parents validation (three cases were nonsense mutations, one was frameshift mutation, one was missense mutation). All patients received rehabilitation training and symptomatic treatments. Three patients presented with epileptic seizures received antiepileptic therapy. At a median follow-up of 11 months (from 4 months to 2 years), one patient died, one lost to follow-up and five had improved intellectual and physical development. Epileptic seizures were controlled or reduced significantly in three patients presented with epileptic seizures. Conclusions: KS is a multisystem disease with complicated manifestations, which needs a combination of various diagnosis and treatments. Genetic testing can help determine the diagnosis. Unusual facies and mental retardation are the main clinical features and diagnostic clue. It is important to improve prognosis through increasing the knowledge of KS, early diagnosis, and treatment.目的： 探讨Kabuki综合征的临床特征、实验室特点及基因诊断，提高对该病的认识。 方法： 回顾性分析总结2014年9月至2016年9月首都医科大学附属北京儿童医院神经内科确诊为Kabuki综合征7例患儿的病例资料。患儿中男3例、女4例，就诊年龄为19日龄至6岁4月龄，平均年龄3岁1月龄。对7例患儿临床表现、实验室及影像学资料、基因检测结果进行回顾性分析。 结果： 7例患儿全部有特殊面容：表现为双侧睑裂细长、下眼睑外侧三分之一轻度外翻，弓形眉伴眉毛稀疏，内眦赘皮，眼距稍宽，鼻梁低，鼻尖扁平；腭弓发育异常6例；上睑下垂4例；牙齿发育异常、听力障碍各3例；斜视、外耳畸形各2例；弱视1例。骨骼异常6例。皮纹异常6例。7例患儿均有轻至中度的智力障碍。身材矮小3例。心脏畸形4例。癫痫发作3例。其他：肌张力异常、新生儿胆红素血症各3例；低血糖、喂养困难各2例；小阴茎、胎儿指垫各1例。7例患儿均进行头颅核磁检查，未发现脑发育畸形。5例患儿行脑电图检查，其中3例有癫痫发作的患儿脑电图异常。5例患儿进行基因检测，均为KMT2D基因杂合突变，其中无义突变3例，移码突变和错义突变各1例；经父母验证，5例均为新发突变。7例均予以康复训练及对症治疗，如对癫痫发作患儿予以抗癫痫药物治疗。分别随访4个月至2年（平均11个月），1例死亡，1例失访，余5例患儿智力、体力发育逐渐进步，3例癫痫发作患儿发作控制或明显减少。 结论： Kabuki综合征临床表现复杂，可累及多系统，其特殊面容和发育障碍是诊断本病的重要特征和线索。基因检查有助于确诊。应早期诊断和治疗，以改善预后。.