Difficult intubation management in a child with I-cell disease

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• I-cell disease (mucolipidosis II) is a rare genetic metabolic disorder.
• It stems from a deficiency in N-acetylglucosamine-1-phosphotransferease, crucial for lysosomal enzyme targeting.
• Affected children exhibit developmental delay, growth failure, and progressive psychomotor deterioration.

Observation:

• Infants may present with congenital hip dislocations, inguinal hernia, hepatomegaly, joint limitations, and skin changes.
• Coarse facial features and skeletal abnormalities become more pronounced with age.
• Life expectancy is typically poor, with mortality often occurring by age five.

Findings:

• Presents a case report on the anesthetic management of a 5-year-old Omani female with I-cell disease undergoing gingivectomy and dental extractions.
• Details the specific anesthetic challenges encountered due to the patient's condition.
• Describes the successful management strategies employed during the procedure.

Implications:

• Highlights the importance of careful preoperative assessment and planning for dental procedures in patients with I-cell disease.
• Provides insights into managing anesthetic risks associated with rare metabolic disorders.
• Contributes to the limited literature on dental surgical management in pediatric I-cell disease patients.