Morquio syndrome
Encyclopedia
Morquio's syndrome is an autosomal recessive mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited. 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.
It involves accumulation of keratan sulfate
.
They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in 4 siblings in a family of Swedish extraction and reports his observations in French.
Patients with Morquio's syndrome appear healthy at birth. They often present with spinal deformity, there is growth retardation or genu valgus in the second or third year of life.
and of enzyme replacement therapy
.
It involves accumulation of keratan sulfate
Keratan sulfate
Keratan sulfate , also called keratosulfate, is any of several sulfated glycosaminoglycans that have been found especially in the cornea, cartilage, and bone. It is also synthesized in the central nervous system where it participates both in development and in the glial scar formation following an...
.
History
The condition was first described, simultaneously and independently, in 1929, by Luis Morquio in Montevideo, Uruguay and James Frederick Brailsford in Birmingham, England.They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in 4 siblings in a family of Swedish extraction and reports his observations in French.
Symptoms
The following symptoms are associated with Morquio's syndrome:- Abnormal heart development
- Abnormal skeletal development
- Hyper mobile joints
- Large fingers
- Knock-knees
- Widely spaced teeth
- Bell shaped chest (ribs flared)
- Compression of spinal cord
- Enlarged heart
- Dwarfism
Patients with Morquio's syndrome appear healthy at birth. They often present with spinal deformity, there is growth retardation or genu valgus in the second or third year of life.
- Short stature (flat vertebrae cause a short trunk), short neck
- 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 gaitGaitGait is the pattern of movement of the limbs of animals, including humans, during locomotion over a solid substrate. Most animals use a variety of gaits, selecting gait based on speed, terrain, the need to maneuver, and energetic efficiency...
- Mid-face hypoplasia and mandibular protrusion
- Thin teeth enamel
- Corneal clouding
- Mild hepatosplenomegaly
- Will probably die at an early age
Treatment
The treatment consists of prenatal identificationPrenatal diagnosis
Prenatal diagnosis or prenatal screening is testing for diseases or conditions in a fetus or embryo before it is born. The aim is to detect birth defects such as neural tube defects, Down syndrome, chromosome abnormalities, genetic diseases and other conditions, such as spina bifida, cleft palate,...
and of enzyme replacement therapy
Enzyme replacement therapy
Enzyme replacement therapy is a medical treatment replacing an enzyme in patients in whom that particular enzyme is deficient or absent. Usually this is done by giving the patient an intravenous infusion containing the enzyme...
.