Anesthesia management in Kabuki make-up syndrome

Area of Science:

• Genetics
• Pediatrics
• Medical Case Reports

Background:

• Kabuki make-up syndrome (KMS) is a rare genetic disorder characterized by distinctive facial features, skeletal anomalies, developmental delays, and intellectual disability.
• While central nervous system dysfunctions are occasionally reported, specific congenital anomalies like talipes calcaneo-valgus are not commonly associated with KMS.

Observation:

• A 22-month-old female presented with features consistent with Kabuki make-up syndrome.
• Her presentation included adenoid hypertrophy, recurrent otitis media, delayed motor development, and postnatal growth deficiency.
• Notably, this patient exhibited congenital talipes calcaneo-valgus, an anomaly not previously described in KMS.

Findings:

• The case report details a novel association of congenital talipes calcaneo-valgus in a patient with Kabuki make-up syndrome.
• The variable phenotypic expression of KMS necessitates comprehensive morphological examinations in affected individuals and their families.
• Preoperative assessments must carefully consider potential complications such as congenital heart defects and epilepsy, which are crucial for anesthesia management in KMS patients.

Implications:

• This finding expands the known spectrum of clinical manifestations in Kabuki make-up syndrome.
• It underscores the importance of vigilant clinical observation and detailed examination to identify rare congenital anomalies in KMS.
• Awareness of these potential associations can improve diagnostic accuracy and inform tailored management strategies for patients with KMS.