Morquio syndrome: Difference between revisions
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''' ''' (referred to as '''[[mucopolysaccharidosis]] IV''', '''MPS IV''', '''Morquio-Brailsford syndrome''', or '''Morquio''')<ref name="MPSSoc IV">{{cite web| url= http://mpssociety.org/mps/mps-iv-morquio/ | publisher= National MPS Society | title= MPS IV (Morquio syndrome) | accessdate= 14 January 2015 | website= MPSSociety.org}}</ref> is an [[autosomal recessive]] [[mucopolysaccharide]] storage disease (see also [[lysosomal storage disorder]]), usually inherited.<ref name="Andrews">{{cite book |author=James, William D. |title=Andrews' Diseases of the Skin: clinical Dermatology |publisher=Saunders Elsevier |location= |year=2006 |pages= |isbn=0-7216-2921-0 |oclc= |doi= |accessdate= |last2=Berger |first2=Timothy G. }}</ref>{{rp|544}} It is a rare type of [[birth defect]] with serious consequences. In the US, the incidence rate for Morquio is estimated at between 1 in 200,000 and 1 in 300,000.<ref name="MPSSoc IV" /> |
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When the body cannot process certain types of [[mucopolysaccharides]], they build up or are eliminated, causing various symptoms. These involve accumulation of [[keratan sulfate]].<ref name="pmid18456538">{{cite journal |author=Prat C, Lemaire O, Bret J, Zabraniecki L, Fournié B |title=Morquio syndrome: Diagnosis in an adult |journal=Joint Bone Spine |volume= 75|issue= 4|pages= 495–8|date=May 2008 |pmid=18456538 |doi=10.1016/j.jbspin.2007.07.021 |url=http://linkinghub.elsevier.com/retrieve/pii/S1297-319X(08)00094-8}}</ref> |
When the body cannot process certain types of [[mucopolysaccharides]], they build up or are eliminated, causing various symptoms. These involve accumulation of [[keratan sulfate]].<ref name="pmid18456538">{{cite journal |author=Prat C, Lemaire O, Bret J, Zabraniecki L, Fournié B |title=Morquio syndrome: Diagnosis in an adult |journal=Joint Bone Spine |volume= 75|issue= 4|pages= 495–8|date=May 2008 |pmid=18456538 |doi=10.1016/j.jbspin.2007.07.021 |url=http://linkinghub.elsevier.com/retrieve/pii/S1297-319X(08)00094-8}}</ref> |
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Revision as of 17:58, 12 May 2015
| Morquio syndrome | |
|---|---|
| Specialty | Endocrinology  |
Potato Syndrome (referred to as mucopolysaccharidosis IV, MPS IV, Morquio-Brailsford syndrome, or Morquio)[1] is an autosomal recessive mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited.[2]: 544 It is a rare type of birth defect with serious consequences. In the US, the incidence rate for Morquio is estimated at between 1 in 200,000 and 1 in 300,000.[1]
When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms. These involve accumulation of keratan sulfate.[3]
History
The condition was first described, simultaneously and independently, in 1929, by Luis Morquio (1867–1935),[4] a prominent Uruguayan physician who discovered it in Montevideo, and James Frederick Brailsford (1888–1961), an English radiographer in Birmingham, England.[5][6] They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in four siblings in a family of Swedish extraction and reported his observations in French.
Signs
The following signs are associated with Morquio's syndrome:
- Abnormal heart development
- Abnormal skeletal development
- Hypermobile joints
- Large fingers
- Knock-knees
- Widely spaced teeth
- Bell-shaped chest (flared ribs)
- Compression of spinal cord
- Enlarged heart
- Dwarfism
- Heart murmur
- below average height for certain age
Patients with Morquio's syndrome appear healthy at birth.[1] They often present with spinal deformity, and there is growth retardation and possibly genu valgum in the second or third year of life. A patient with Morquio's syndrome is likely to die at an early age. Other signs and symptoms of the disease may include:
- Short stature and short neck (caused by flat vertebrae)
- Moderate kyphosis or scoliosis
- Mild pectus carinatum ("pigeon chest")
- Cervical spine: odontoid hypoplasia, atlanto-axial instability; may be associated with myelopathy with gradual loss of walking ability
- Joint laxity, mild dysostosis multiplex, dysplastic hips, large unstable knees, large elbows and wrists, and flat feet
- The combined abnormalities usually result in a duck-waddling gait
- Mid-face hypoplasia and mandibular protrusion
- Thin tooth enamel
- Corneal clouding
- Mild hepatosplenomegaly
Regarding the life span of persons with Morquio, some can die as early as 2 or 3 years old, and some can live up to 60 or 70 years old.
Treatment
The treatment for Morquio's syndrome consists of prenatal identification and of enzyme replacement therapy. On 12 February 2014, the US Food and Drug Administration approved the drug elosulfase alfa (Vimizim) treating the disease.[7]
See also
References
- ^ a b c "MPS IV (Morquio syndrome)". MPSSociety.org. National MPS Society. Retrieved 14 January 2015.
- ^ James, William D.; Berger, Timothy G. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
- ^ Prat C, Lemaire O, Bret J, Zabraniecki L, Fournié B (May 2008). "Morquio syndrome: Diagnosis in an adult". Joint Bone Spine. 75 (4): 495–8. doi:10.1016/j.jbspin.2007.07.021. PMID 18456538.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Morquio, L. (1929). "Sur une forme de dystrophie osseuse familiale". Archives de médecine des infants. 32. Paris: 129–135. ISSN 0365-4311.
- ^ synd/2108 at Who Named It?
- ^ Brailsford, J. F. (1929). "Chondro-osteo-dystrophy: Roentgenographic & clinical features of a child with dislocation of vertebrae". American Journal of Surgery. 7 (3). New York: 404–410. doi:10.1016/S0002-9610(29)90496-7.
- ^ "FDA approves Vimizim to treat rare congenital enzyme disorder" (Press release). US Food and Drug Administration. 14 February 2014. Retrieved 14 January 2015.