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Myelopathy in mucopolysaccharidosis type II (Hunter syndrome)
Abstract:
A 24-year-old man with Hunter syndrome had spastic quadriparesis due to impingement of thickened meninges upon the cervical spinal cord. Tracheal narrowing due to submucosal deposits (presumably mucopolysaccharide) produced serious ventilatory complications during induction of anesthesia and necessitated tracheostomy before surgical decompression of the spinal cord could be attempted. Recognition of compressive myelopathy and tracheal compromise as late complications of Hunter syndrome may promote early therapy and prevent respiratory catastrophe.
Insights
Hunter syndrome can cause spinal cord compression and airway narrowing, leading to serious complications. Early recognition of these issues is crucial for timely treatment and preventing respiratory failure.
Area of Science:
- Neurology
- Genetics
- Anesthesiology
Background:
- Hunter syndrome (Mucopolysaccharidosis type II) is a rare genetic disorder.
- It involves progressive accumulation of glycosaminoglycans, affecting multiple organ systems.
- Neurological and respiratory complications are known, but often present later in the disease course.
Observation:
- A 24-year-old male patient with Hunter syndrome presented with spastic quadriparesis.
- The neurological deficit was caused by cervical spinal cord compression from thickened meninges.
- Significant tracheal narrowing due to submucosal mucopolysaccharide deposits complicated anesthesia induction.
Findings:
- The patient required tracheostomy due to severe ventilatory compromise before spinal cord decompression surgery.
- This case highlights compressive myelopathy and tracheal compromise as critical late-stage complications of Hunter syndrome.
- The submucosal deposits in the trachea were presumed to be mucopolysaccharides, consistent with the underlying disorder.
Implications:
- Early identification of spinal cord and airway involvement in Hunter syndrome is vital.
- Prompt therapeutic interventions can prevent irreversible neurological damage and respiratory catastrophe.
- This underscores the importance of multidisciplinary care and vigilant monitoring for late complications in lysosomal storage diseases.