A Case of Kabuki Make-up Syndrome Type-2 with Autism Spectrum Disorder Otizm Spektrum Bozukluğu ile Birlikte Bir Kabuki Make-up Sendromu Tip-2 Olgusu

Naralan Y. S., Naralan M. E.

Turkish Journal of Child and Adolescent Mental Health, cilt.32, sa.1, ss.63-67, 2025 (Scopus, TRDizin)

Özet

Kabuki make-up syndrome, caused by mutations in the KDM6A gene on chromosome Xp11.23, is a rare genetic disorder characterized by distinct facial features such as outward-turned down lateral eyelids, curved and sparse eyebrows, long palpebral fissures, a flattened wide nose, wide ears, mental disability, skeletal anomalies, postnatal growth retardation, and dermatoglyphic anomalies. In this case of KMS type 2, a fourteen-year-old patient was referred to outpatient clinic by a paediatric neurologist. The patient presented with difficulties in forming relationships, mobility issues, and problems with anger management. Given the presence of dysmorphic facial features, an autism spectrum disorder (ASD) diagnosis, and mental retardation, clinician opted for next-generation genome sequencing, which revealed a de novo mutation in the KMDA6A gene located in the Xp11.3 chromosome region. Although KMS type 2 is a rare genetic syndrome, it is crucial for child psychiatrists to increase their awareness of this condition due to its clinical manifestations, which include ASD and cognitive development delays. This awareness can aid in facilitating early diagnosis and determining the special requirements for managing accompanying comorbid psychiatric conditions and designing tailored educational treatments during follow-up care.