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Objective This study is to investigate the clinical features,laboratories characteristics and genetic expression of Kabuki syndrome (KS). Methods Between September 2014 and September 2016, seven children with clinically diagnosed KS from neurology department, Beijing Children Hospital, Capital Medical University were included in this study. The patients were analyzed prospectively. Results All seven cases presented with unusual facies and mental retardation. Six cases presented with dermatoglyphic anomalies, finger malformations and palatal arch deformity respectively. Four cases presented with ptosis and cardiac abnormalities respectively. Three cases presented with short stature, epileptic seizures, dystonia, scoliosis,dental abnormalities, hearing impairment and neonatal hyperbilirubinemia respectively. Five patients received electroencephalogram (EEG) test, and three of them presented with seizures and EEG abnormalities. Among these three patients, interictal EEG revealed hypsarrhythmia in one patient with infant spasms, focal paroxysmal epileptiform discharges in one patient with focal seizures evolving to secondarily bilateral tonic-clonic seizures, and status epilepticus, diffuse medium to high-voltage δ waves in one patient with acute hypoxic brain injury history presented with tonic-clonic seizures. Five patients received genetic testing and all presented with KMT2D heterozygous mutations which were new mutations proved by parents validation. All patients received rehabilitation trainings and symptomatic treatments. At a median follow-up of 11 months, one patient died, one lost to follow-up and five with improved intellectual and physical development. Conclusion KS is a multisystem disease with complicated manifestations, which needs combination of various diagnosis and treatments. It’s important to improve prognosis through increase the knowledge of KS, early diagnosis and treatment.

Kabuki syndrome; Clinical manifestation; KMT2D gene mutation