Morquio Syndrome Lifespan – A rare congenital Disease

Morquio Syndrome Lifespan – A rare congenital Disease

Morquio Syndrome is a rare disease that also named mucopolysaccharidosis type IV. This disease have reported in 1 of 200.000 births. Pediatrician doctor Luis Morquio from Uruguay and his colleague James Brailsford discovered the lysosomal disorder in year 1929. So, this syndrome has named Morquio Syndrome. It is a rare autosomal recessive inherited syndrome. For this reason, it will seen more common in consanguineous marriage.

Morquio Syndrome causes:

In the absence of galactosamine-6-sulfatase or beta-galactosidase enzyme, keratan sulfate will accumulate in the whole body cells. Keratan sulphate is mainly found in the cornea, cartilage, underside of the nucleus pulposus of intervertebral discs. Depending on this accumulation, serious bone deformities, eye abnormalities, upper airway structural abnormalities, lung, heart and liver anomalies, craniofacial and ocular anomalies will arise.

Morquio Syndrome symptoms:

  • In these patients due to odontoid hypoplasia, instability and subluxation of the neck joints may seen.
  • With it lower extremity and thoracic cortical deformities will present also.
  • Patients typically present with complaints of skeletal changes and growth retardation at 1-3 years of age.
  • Walking disorders and abnormal walking is common also.
  • Wide mouth, distinctive maxilla, rough face appearance and inwarded short nose may seen also.
  • Dental enamel defects are common. However, widespread teeth can disrupt mouthwork.
  • A typical barrel chest deformity appearance due to kyphoscoliosis and costa deformities may seen.
  • Corneal opacities may seen in eyes.
  • Lung volume may decrease due to kyphoscoliosis and ventilation-perfusion incompatibility. The respiratory problems have associated with this finding.
  • The sleep apnea, which causes pulmonary hypertension, cor pulmonale and sudden death is frequent.
  • Cardiac involvement may develop in late stages, but it is a common finding.
  • The most common lesion is aortic insufficiency, but cardiac ischemia and sudden death may also seen due to coronary arteries infiltrating with mucopolysaccharides.
  • Rarely, the myocardial deposits can reduce the myocardial compliance and arrhythmias can seen.
  • Neurological dysfunctions due to cervical cord compression may develop rarely.

Morquio Syndrome diagnosis:

  • In lateral cervical graphy, hypoplasia in C2 odontoid bone is common. In lateral thoracolumbar vertebral graphy may shown ovoid appearance and tongue-like protrusion extending in anteriorly vertebrae corpus also. With it, increased intervertebral disc distance may seen.
  • Identification of urinary mucopolysaccharide excretion and it’s type, help for diagnosis.
  • The measurement of specific enzymes in different tissues such as cultured skin fibroblasts can make definite diagnosis.
  • This disease can cause to short height. In children with developmental retardation, this syndrome should be considered for differential diagnosis.

Morquio Syndrome treatment:

Cervical myelopathy may develop due to spinal cord compression due to cervical canal stenosis. Wit it, the goal of the treatment is to protected these patients against cervical myelopathy. Occipitocervical fusion is performed for this purpose. In addition, due to genetic inheritance of the disease, prenatal diagnosis must performed absolutely.

In addition to the surgical treatment of these bone anomalies, myringotomy, herniorrhaphy, eye and dental operations have frequently performed in these patients.

Morquio Syndrome lifespan:

Most of these patients will die becouse of cervical myelopathy and respiratory and cardiac insufficiency between 20 and 30 years of age. However, some patients with mild form of this disease can live up to 50-60 years of age with good support.

 

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Morquio Syndrome Lifespan
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Morquio Syndrome Lifespan
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Morquio Syndrome is a rare disease that also named mucopolysaccharidosis type IV. This disease have reported in 1 of 200.000 births. Pediatrician doctor Luis Morquio from Uruguay and his colleague James Brailsford discovered the lysosomal disorder in year 1929. So, the syndrome has named Morquio Syndrome. 
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