What Is Morquio-Brailsford Syndrome/Type IV?
MPS IV is a mucopolysaccharide disorder referred to as the Morquio or Morquio-Brailsford syndrome. The lysosomal storage disorders known as mucopolysaccharidoses (MPS) are inherited. Within cells, lysosomes serve as the main digesting organelles. Particular vitamins and minerals, such as some carbohydrates and lipids, are broken down or digested by enzymes within lysosomes. The circulatory system, skeleton, eyes, joints, ears, skin, and/or teeth of people with MPS diseases abnormally accumulate specific complex carbohydrates (mucopolysaccharides and glycosaminoglycans). This aberrant accumulation is caused by a deficit or malfunction of particular lysosomal enzymes. The liver, spleen, blood, bone marrow, central nervous system, respiratory system, and other organs and tissues may also contain these accumulations. Cells, tissues, and different human organ systems eventually suffer increasing damage as a result of this accumulation.
What Are the Causes of Morquio-Brailsford Syndrome/Type IV?
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Mutations within the GALNS gene result in a lack of the GALNS enzyme, which causes MPS IVA, an autosomal recessive inheritable disorder.
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Beta-galactosidase deficiency brought on by GLB1 gene mutations results in MPS IVB, an autosomal recessive inherited disorder.
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In the body's cells and tissues, both result in an ensuing buildup of keratan sulfate (KS). Reductions in vision and skeletal abnormalities are caused by the buildup of KS in the bone and cornea, respectively.
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The chromosomes inherited from the mother and father each contain a certain trait's associated genes, which together determine the presence of genetic illnesses. When a person receives two faulty copies of the same trait-causing gene, one from each parent, recessive genetic diseases result. An individual will be an inheritor of the condition but will not exhibit symptoms if they inherit one normal gene along with a gene for the condition. Each pregnancy carries a chance that two carriers will carry the faulty gene to their offspring. Each pregnancy increases the likelihood of having a carrier child. Children inherit typical genes from either parent and have that particular trait in their genetic makeup. Both men and women run the same danger.
In comparison to unrelated parents, close relatives (consanguineous) parents are more likely to share a defective gene, which raises the likelihood that their offspring may develop a recessive genetic disorder.
What Are the Symptoms of Morquio-Brailsford Syndrome/Type IV?
Morquio syndrome has the following symptoms:
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Very petite height and body length.
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The abnormal bone along with spine development, including scoliosis of extreme severity.
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The bottom ribs of a bell-shaped thorax are flared out.
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Hypermobile joints flex easily in unusual positions, such as the ability to bend the legs behind the head, also known as "double-jointed."
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Knock-knees the knees pointing inward and contact when the individual walks.
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Large skull.
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Wide tooth spacing.
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Coarse facial characteristics may include pronounced scalp veins, a flat-bridged nose, and a protruding forehead.
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Conceivable cardiac and visual issues.
What Are the Diagnostic Methods For Morquio-Brailsford Syndrome/Type IV?
A medical practitioner can diagnose Morquio syndrome by using the following criteria:
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Medical history of a patient.
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Examinations of the body.
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Skeletal X-ray.
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Urine glycosaminoglycans (GAGs) evaluation, which analyses the quantity of GAG in a person's urine.
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The substance keratan sulfate is a GAG. High levels of keratan sulfate in a person's urine may indicate that someone suffers from Morquio syndrome.
The subtype of Morquio syndrome an individual has can be determined through genetic testing. The collection of a tissue sample, such as the bloodstream or epidermis, is required for genetic testing. This sample is sent to a laboratory by a healthcare professional, where technicians investigate for gene mutations.
What Are the Treatment Methods For Morquio-Brailsford Syndrome/ Type IV?
The treatment for MPS IVA is an enzyme replacement therapy using recombinant human GALNS (also known as Elosulfase alfa or Vimizim). BioMarin Pharmaceutical Inc. is the company that makes the medication known as Vimizim.
Other treatments for MPS IV focus on relieving symptoms and providing emotional support. By performing operations to decompress and reattach the bones of the neck region closest to the base of the cranium, it is possible to prevent damage to the vertebral column as well as destabilization of the vertebrae of the cervical spine, both of which could occur otherwise.
Individuals diagnosed with MPS IV should ideally be managed by a team consisting of multiple specialists, such as a physical therapist for physical therapy, a psychiatrist for psychological assistance, educational professionals for educational optimization, and home care professionals for affected individuals who are dependent on medical equipment.
In addition, surgeons may play an important role in the treatment of patients who are affected by the condition. When treating a patient who has ventricular hypertrophy (also known as overgrowth), a bioprosthetic or prosthetic valve may need to be implanted. To reduce upper-airway congestion and sleep apnea, enlarged tonsils and adenoids may need to be removed surgically. Hearing aids and ventilation tubes may be necessary for some people who have trouble hearing. To repair decreased eyesight brought on by corneal opacification (also known as scarring or clouding of the cornea), penetrating keratoplasty, also known as corneal replacement, may be necessary. However, if they have issues hearing or seeing, they may need to sit toward the front of the classroom. Children with MPS IVA normally have normal intellect, therefore they typically attend conventional classes. However, if they have difficulties hearing or seeing, they typically need to sit at the front of the classroom. In addition to that, they may require the use of a wheelchair while they are on school property.
It is strongly suggested that affected individuals, as well as members of their families, get genetic counseling.
What Are the Complications of Morquio-Brailsford Syndrome/Type IV?
Morquio syndrome causes skeletal anomalies, corneal clouding, hearing problems, dental cavities, narrowing airway, cervical myelopathy, atlantoaxial instability, joint laxity (floppy hands and wrists, knock-knee), along with valvular and coronary heart disease. Morquio syndrome individuals rarely develop carpal tunnel syndrome despite their larger, bent wrists.
Morquio syndrome individuals have tachycardia, but arterial hypertension has not been reported in younger patients. However, Morquio syndrome patients have an age-related intrathoracic organ disproportion, aortic root extension, enlarged left ventricles, reduced stroke volumes, altered diastolic filling trends, and higher heart rate.
Conclusion:
In MPS IV, dental abnormalities are very specific. Due to the lack of treatment for Morquio's syndrome, ongoing surveillance and intervention are required. There has been some success with a transplant of bone marrow along with enzyme replacement therapy (ERT). This case demonstrates the significance of a systemic evaluation and the incorporation of MPS type IVA in determining the probable cause of enamel hypoplasia. Since each of the first and second permanent dentitions has been impacted, even clinically atypical cases can be diagnosed early. The patient's quality of life will be enhanced by early systemic evaluation along with follow-up.
