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Related Experiment Video

Updated: Jul 12, 2026

Determining Glucose Metabolism Kinetics Using 18F-FDG Micro-PET/CT

Determining Glucose Metabolism Kinetics Using ¹⁸F-FDG Micro-PET/CT

Published on: May 2, 2017

Fucosidosis and anesthesia.

Alireza E Soltani¹, Reza S Moharari, Reza Ghaffari

¹Department of Anesthesia, Children Medical Center, University of Tehran, Tehran, Iran.

Saudi Medical Journal

|September 5, 2007

Summary

Fucosidosis, a rare genetic disorder, causes glycoprotein buildup and physical abnormalities. This case highlights anesthetic challenges in a child with maxillofacial deformities and cardiac issues.

Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Fucosidosis is a rare autosomal recessive lysosomal storage disorder due to alpha-L-fucosidase deficiency.
It leads to glycoprotein accumulation in organs, particularly the brain, and characteristic structural abnormalities.
The condition presents in infantile and juvenile forms, impacting patient management.

Observation:

An 8-year-old girl with fucosidosis presented with significant maxillofacial deformities.
These included macroglossia, retrognathia, a saddle nose, and a short, non-extendable neck.
Congenital cardiac anomalies were also noted, complicating her medical profile.

Findings:

The patient's craniofacial and cervical abnormalities posed a significant challenge for endotracheal intubation.

Related Experiment Videos

Last Updated: Jul 12, 2026

Determining Glucose Metabolism Kinetics Using 18F-FDG Micro-PET/CT

Determining Glucose Metabolism Kinetics Using ¹⁸F-FDG Micro-PET/CT

Published on: May 2, 2017

The presence of congenital heart disease necessitated a tailored anesthetic approach.

Management required careful consideration of the underlying lysosomal storage disorder.

Implications:

This case underscores the critical need for specialized anesthetic strategies in pediatric patients with fucosidosis.
Early recognition of potential airway and cardiac complications is vital for surgical and anesthetic planning.
Understanding the phenotype of fucosidosis aids in optimizing patient care and improving outcomes.