Hunter syndrome; mucopolysaccharidosis-2; MPS2
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Epidemiology
- rare[4]
Pathology
- lysosomal accumulation of heparan sulfate & dermatan sulfate & their excretion in urine
Genetics
- X-linked recessive disorder[4]
- associated with defects in iduronate 2-sulfatase gene
Clinical manifestations
- wide range in severity
- severe cases similar to Hurler's syndrome
- no corneal clouding
- deafness
- retinal degeneration (common)
- intelligence is normal in mild cases
- mildly retarded in severe cases
- cardiovascular
- multi-valvular lesions
- coronary artery disease
- great artery disease
- cardiomyopathy
- skin: hypertrichosis*[4]
- pebbling sign of skin with a predilection for the scapular region
* image[4]
Laboratory
* urine heparan sulfate & urine dermatan sulfate excreted in urine
Prognosis: life expectancy: 2nd decade to normal
Management
More general terms
References
- ↑ Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 383
- ↑ Cotran et al Robbins Pathologic Basis of Disease, W.B. Saunders Co, Philadelphia, PA 1989 pg 150
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
- ↑ 4.0 4.1 4.2 4.3 4.4 Kumar P, Das PC, Das A. Images in Dermatology: Hunter Syndrome JAMA Dermatol. Published online October 19, 2022 PMID: https://www.ncbi.nlm.nih.gov/pubmed/36260294 https://jamanetwork.com/journals/jamadermatology/fullarticle/2797538