[Anesthetic management of a patient with Mulvihill-Smith syndrome]

Area of Science:

• Anesthesiology
• Genetics
• Rare Diseases

Background:

• Mulvihill-Smith syndrome is a rare progeroid syndrome with distinct physical characteristics including microcephaly, short stature, and immunodeficiency.
• Patients with Mulvihill-Smith syndrome may have unique physiological challenges impacting anesthetic management.

Observation:

• This report details the anesthetic management of a 27-year-old female with Mulvihill-Smith syndrome undergoing oral and ocular surgery.
• Challenges included difficult mask ventilation (requiring an infant mask) and Cormack grade 3 airway, managed with the BURP maneuver for intubation.
• Significant blood pressure fluctuations during anesthesia suggested advanced arteriosclerosis.

Findings:

• Successful anesthetic management was achieved despite airway difficulties and hemodynamic instability.
• The patient experienced an uneventful postoperative recovery and was discharged on the 9th day.

Implications:

• Anesthetic management for Mulvihill-Smith syndrome requires meticulous attention to potential airway difficulties and hemodynamic instability.
• This case highlights the importance of tailored anesthetic strategies for rare genetic syndromes.
• Further research into the anesthetic implications of progeroid syndromes is warranted.