A Child with Kabuki Syndrome and Autism Spectrum Disorder

Kabuki syndrome (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and mental retardation. There are only a few case reports that present the coexistence of KS with autism spectrum disorder (ASD) in the literature. Herein we present the case of a boy with KS and ASD and discuss the possible shared etiologies. A 4-year-old boy was brought by his parents with complaints of no speech, hyperactivity, enuresis complex, temper tantrum, self-injury, and harming people or objects. We determined the lack of speech and eye contact, stereotypical behavior, and impaired social interaction and diagnosed him with autism and severe mental retardation via a psychiatric assessment. He had been followed up by pediatricians until he was 2 years old. Pediatricians noted his long eyelids with eversion of the lateral third of the lower eyelid, de-pressed nasal tip, short stature, long palpebral fissures, brachydactyly, and fetal finger pads in their physical examination. The boy who has an operated ventral septal defect and seizures was diagnosed with KS when he was 5 years old. We recommended his parents to apply to a special education agency and kindergarten for him. Our case is a new example of the coexistence of KS and ASD in addition to the very few cases in the literature. Genetic analyses conducted in the existence of specific genetic syndromes, such as KS, may provide opportunities for understanding the genetic etiology of ASD and new scope in terms of novel treatment approaches.