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Published on: August 15, 2019
[A case of Marshall-Smith syndrome]
Yoko Watanabe1, Yoko Tanaka, Naoji Umemura
1Department of Anesthesiology, Ichikawa General Hospital, Tokyo Dental College, Ichikawa 272-0824.
Masui. the Japanese Journal of Anesthesiology
|September 19, 2003
Summary
Marshall-Smith syndrome (MSS) presents a difficult airway risk, even in mild cases. This rare disorder requires careful airway management during medical procedures due to potential complications.
Area of Science:
- Pediatric Anesthesiology
- Clinical Genetics
- Rare Diseases
Background:
- Marshall-Smith syndrome (MSS) is a rare genetic disorder.
- Characterized by skeletal anomalies, facial dysmorphia, and failure to thrive.
- Often leads to early infant death from respiratory issues.
Observation:
- A 4-year-old boy with MSS underwent surgery for snapping fingers.
- Pre-operative airway assessment appeared normal via fiber-optic laryngoscopy.
- The patient experienced frequent pharyngeal collapse during sleep.
Findings:
- Anesthesia induction revealed a significantly difficult airway.
- Laryngoscopy showed only partial visualization of the epiglottis.
- This occurred despite a seemingly normal pre-operative airway evaluation.
Implications:
- Marshall-Smith syndrome should be considered a high-risk factor for difficult airway and intubation.
- Even mild presentations of MSS warrant cautious airway management.
- This case highlights the importance of anticipating airway challenges in MSS patients.
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