[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.