Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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August 2, 2018
Hunter Syndrome
- Background:
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Hunter syndrome, a mucopolysaccharidosis (MPS), is a lysosomal storage disease due to iduronate-2-sulfatase deficiency in which unprocessed glycosaminoglycan accumulation in tissues leads to toxicity.
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- Clinical Presentation:
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Varied—can range from mild to severe
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Major causes of morbidity and mortality include neurologic degeneration, cord compression, obstructive airway disease, and cardiac failure.
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- Key Diagnostic Features:
- Brain atrophy
- Bilateral periventricular white matter T2 hyperintensities
- Pannus formation at the craniocervical junction with canal stenosis
- Hydrocephalus and formation of prominent perivascular and subarachnoid spaces
- Mega cisterna magna
- Characteristic retinal thickening with enophthalmos and optic nerve atrophy
- Early closure of the metopic suture with lack of pneumatization of the frontal sinuses
- Early degeneration of the temporomandibular joints
- Increased spacing between teeth
- Diagnostic Workup
- Enzyme analysis and genetic testing
- Hunter syndrome is the only X-linked recessive MPS.
- Differential Diagnoses:
- Other mucopolysaccharidoses
- Lysosomal storage diseases
- Skeletal dysplasias
- Treatment:
- Enzyme replacement, substrate inhibition, and hematopoietic transplant therapies have significantly improved the duration and quality of life in patients.
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