Morquio syndrome: Difference between revisions
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Revision as of 13:17, 18 October 2012
| Morquio syndrome | |
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| Specialty | Endocrinology  |
Morquio's syndrome (referred to as mucopolysaccharidosis IV or Morquio's) is an autosomal recessive mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited.[1]: 544 It is a rare type of birth defect with serious consequences. When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms. These involve accumulation of keratan sulfate.[2]
History
The condition was first described, simultaneously and independently, in 1929, by Luis Morquio (1867–1935), a well-known Uruguayan physician who discovered it in Montevideo, Uruguay and James Frederick Brailsford (1888–1961), an English radiographer in Birmingham, England.[3][4][5]
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.
Symptoms
The following symptoms 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
Patients with Morquio's syndrome appear healthy at birth. They are 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 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
Treatment
The treatment for Morquio's syndrome consists of prenatal identification and of enzyme replacement therapy.
See also
References
- ^ James, William D.; Berger, Timothy G. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
{{cite book}}: Invalid|display-authors=3(help) - ^ Prat C, Lemaire O, Bret J, Zabraniecki L, Fournié B (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}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ synd/2108 at Who Named It?
- ^ Morquio, L. (1929). "Sur une forme de dystrophie osseuse familiale". Archives de médecine des infants. 32. Paris: 129–135. ISSN 0365-4311.
- ^ 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.
External links
- International Dwarf Advocacy Association
- National MPS Society
- International Morquio Organization
- Hide & Seek Foundation for Lysosomal Disease Research
- The BioMarin Morquio A (MPS IVA) Program
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