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Published on: June 18, 2021
Scheie syndrome diagnosed after cerebral infarction
Daiki Fujii1, Yasuhiro Manabe, Tomotaka Tanaka
1Department of Neurology, National Hospital Organization Okayama Medical Center, Okayama, Japan.
Summary
This case study highlights Scheie syndrome, a rare genetic disorder, diagnosed in a woman experiencing cerebral infarction. Early detection and treatment, including enzyme replacement therapy, can improve outcomes for this condition.
Area of Science:
- Biochemistry
- Neurology
- Genetics
Background:
- Scheie syndrome is a rare lysosomal storage disorder.
- It is characterized by a deficiency in the enzyme alpha-L-iduronidase.
- This deficiency leads to the accumulation of glycosaminoglycans, causing multisystemic effects.
Observation:
- A 41-year-old woman presented with acute neurological deficits suggestive of cerebral infarction.
- Clinical examination revealed dysarthria, facial paralysis, hemiparesis, and sensory impairment.
- Diagnostic criteria included characteristic physical features and confirmed alpha-L-iduronidase deficiency.
Findings:
- Cerebral infarction was confirmed via diffusion-weighted MRI, showing lesions in the brain.
- The patient exhibited typical Scheie syndrome manifestations: coarse facial features, claw hands, and retinal degeneration.
- Enzymatic assay confirmed deficient lysosomal alpha-L-iduronidase activity.
Implications:
- This case underscores the importance of recognizing cerebral infarction as a potential complication of Scheie syndrome.
- Successful treatment involved intravenous recombinant tissue plasminogen activator (rtPA) for acute stroke and subsequent enzyme replacement therapy (ERT).
- ERT offers a promising therapeutic strategy to improve the long-term prognosis for individuals with Scheie syndrome.
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