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[Repeated General Anesthesia for a Child with Saethre-Chotzen Syndrome]

Naomi Okamoto, Yutaka Oda, Ryu Okutani

    Masui. the Japanese Journal of Anesthesiology
    |October 26, 2018
    PubMed

    Insights

    This case study details a Saethre-Chotzen syndrome diagnosis in an infant with craniosynostosis and multiple congenital anomalies. Surgical interventions were successful, with language delay noted at 27 months.

    Area of Science:

    • Genetics
    • Pediatric Surgery
    • Developmental Pediatrics

    Background:

    • Saethre-Chotzen syndrome is a genetic disorder characterized by craniosynostosis and other craniofacial abnormalities.
    • Early diagnosis and surgical intervention are crucial for managing the complex medical needs of affected infants.

    Observation:

    • A neonate presented with bicoronal craniosynostosis, high-arched palate, low-set ears, midfacial hypoplasia, patent foramen ovale, patent ductus arteriosus, pulmonary artery stenosis, and anal atresia.
    • Genetic testing confirmed Saethre-Chotzen syndrome at six months of age.

    Findings:

    • The infant underwent successful surgical management including craniotomy, fronto-orbital advancement, device removal, and perineal anoplasty.
    • Anesthesia and intubation were managed without complications, with a Cormack-Lehane grade of 1.

    Implications:

    • This case highlights the importance of a multidisciplinary approach in managing Saethre-Chotzen syndrome, involving genetics, surgery, and developmental pediatrics.
    • While surgical outcomes were positive, ongoing monitoring for developmental milestones, such as language acquisition, is essential.

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