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[Cervical myelopathy in mucopolysaccharidosis type II (Hunter's syndrome). Neuroradiologic, clinical and
S Kaendler1, S Bockenheimer, H Gräfin Vitzthum
1Abteilung für Neuroradiologie, Krankenhaus Nordwest, Klinikum der Universität Frankfurt.
Abstract:
A moderately severe spasticity affecting all four limbs, but especially the legs and the right side, developed in a 36-year-old man with mucopolysaccharidosis II (Hunter syndrome) who for 6 months had suffered from pain in the neck radiating into the shoulder. Myelography, computed tomography and magnetic resonance imaging revealed thickening of the cervical meninges as the cause of the symptoms. A laminectomy was performed and the foramen magnum enlarged by an occipital craniotomy. At operation dorsal thickening of the dura was evident; thickened tissue was also palpable in front of the dural sac. Histological examination of a tissue sample revealed deposition of acid mucopolysaccharides. The gait of the patient was improved after the operation and the neck pain disappeared. Similar findings were present in other family members.
Insights
Mucopolysaccharidosis II (Hunter syndrome) can cause severe spasticity due to cervical meningeal thickening. Surgical decompression improved symptoms, indicating a potential treatment pathway for this rare genetic disorder.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Mucopolysaccharidosis II (Hunter syndrome) is a rare genetic disorder.
- Cervical meningeal thickening is a potential complication.
- Spasticity and neck pain can significantly impact quality of life.
Observation:
- A 36-year-old male with Hunter syndrome developed severe spasticity and neck pain.
- Imaging revealed cervical meningeal thickening compressing the spinal cord.
- Histology confirmed acid mucopolysaccharide deposition in the meninges.
Findings:
- Surgical decompression via laminectomy and occipital craniotomy was performed.
- The patient experienced improved gait and resolution of neck pain post-surgery.
- Similar family history suggests a genetic predisposition to meningeal complications.
Implications:
- This case highlights meningeal involvement as a significant neurological manifestation of Hunter syndrome.
- Surgical intervention may effectively alleviate neurological deficits caused by meningeal thickening.
- Further research into the pathogenesis of meningeal deposition in MPS II is warranted.