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Cervical myelopathy secondary to Hunter syndrome in an adult
M Vinchon1, A Cotten, J Clarisse
1Department of Neurosurgery, Hôpital B, Lille, France.
AJNR. American Journal of Neuroradiology
|August 1, 1995
Abstract:
We present a case of type II mucopolysaccharidosis in which the diagnosis was delayed until the onset of cervical myelopathy in adulthood. Radiographic features were characteristic, with striking dural thickening shown on CT and MR imaging.
Insights
Diagnosis of type II mucopolysaccharidosis was delayed in an adult until cervical myelopathy symptoms appeared. Characteristic radiographic findings included significant dural thickening on CT and MR imaging.
Area of Science:
- Neurology
- Medical Imaging
- Genetics
Background:
- Type II mucopolysaccharidosis (MPS II), also known as Hunter syndrome, is a rare genetic disorder.
- MPS II results from a deficiency in the enzyme iduronate-2-sulfatase, leading to the accumulation of glycosaminoglycans.
- Delayed diagnosis of MPS II can lead to severe, irreversible complications.
Observation:
- A case of adult-onset MPS II is presented.
- The patient's diagnosis was significantly delayed until the development of cervical myelopathy.
- Clinical presentation included neurological deficits attributable to spinal cord compression.
Findings:
- Radiographic imaging, including CT and MR imaging, revealed characteristic features of MPS II.
- Striking dural thickening was a prominent finding on imaging.
- Cervical myelopathy was confirmed as a complication of the disease progression.
Implications:
- This case highlights the importance of considering MPS II in adults with unexplained neurological symptoms, particularly cervical myelopathy.
- Advanced imaging techniques like CT and MR are crucial for identifying characteristic features such as dural thickening.
- Early diagnosis and intervention in MPS II can potentially prevent or mitigate severe complications like myelopathy.