Kabuki Syndrome: Clinical Evaluation, Polysomnographic and Positive Pressure Titration with CPAP

Keywords

Kabuki syndrome - obstructive sleep apnea - polysomnography

Introduction: Kabuki syndrome (KS) is a rare congenital craniofacial disorder caused by mutations in the KMT2D and KDM6A genes, affecting approximately 1 in 86,000 individuals. It is characterized by craniofacial abnormalities, such as cleft lip/palate, retrognathia, and, in some cases, heart defects. Although literature is limited, it is recognized that KS individuals often experience obstructive sleep apnea (OSA) due to reduced airway dimensions.

Objective: To evaluate, diagnose, and treat OSA in an adult patient with KS.

Methods: A 39-year-old adult with KS was assessed. The patient reported frequent nocturnal awakenings, loud snoring and observed apneas. Additional clinical features included bilateral complete cleft lip and palate, visual impairment, compensated diabetes, schizophrenia, micrognathia, retrognathia, and mild intellectual disability. Diagnostic evaluations included: Berlin Questionnaire (BQ) for OSA risk assessment; Anthropometric measurements: body mass index (BMI), neck (NC) and waist circumference (WC); Type III (APNEA LINK®); Type IV (BIOLOGIX®).

Results: The BQ indicated a high risk for OSA. Anthropometric measurements showed grade II obesity (NC = 48 cm (ref: <40 cm), WC = 118 cm (ref: <94 cm), and BMI = 37.3 kg/m² (ref: <25). Type III PSG results (APNEA LINK) revealed: Apnea-Hypopnea Index (AHI) = 37.5 ev/h, minSatO₂ = 85%, and oxygen desaturation index (ODI) = 30 ev/h. Type IV polygraphy results (BIOLOGIX®) showed ODI = 45 ev/h and minSatO₂ = 79%. CPAP therapy was recommended for OSA treatment. A 30-day adherence report showed 100% compliance and 97% of nights having usage ≥4 hours. The CPAP device settings were min pressure = 6 cmH2O, max pressure = 14 cmH2O, ERP (Expiratory Reserve Pressure) level = 3. Therapy results included a median pressure of 11.3 cmH2O, 95th percentile pressure = 13.6 cmH2O, and max pressure = 13.9 cmH2O. Titration Type I PSG revealed AHI = 10.1 and minSatO₂ = 85%. The patient reported good adherence to CPAP and satisfaction with positive airway pressure therapy, along with a significant improvement in sleep quality.

Conclusion: Understanding the relationship between OSA and KS is crucial for providing comprehensive care, as both conditions significantly impact the health of affected individuals. In this case, CPAP therapy proved effective in treating OSA, as evidenced by significant improvements in AHI, along with reported satisfaction and enhanced sleep quality.

Die Autoren geben an, dass kein Interessenkonflikt besteht.

Publikationsverlauf

Artikel online veröffentlicht:
16. September 2025