Morquio syndrome
Updates to Article Attributes
Body
was changed:
Morquio syndrome is an autosomal recessive mucopolysaccharidosis (MPS), type IV.
Epidemiology
Incidence estimated inat ~1 : 40000
Pathology
It results from an excess of Keratan sulphate from a deficit in its degradation pathway. Keratan sulphate accumlates in various tissues inclusive of cartilage, the nucleus pulposus of the intervertabral disc and cornea:40,000 .
Clinical presentation
Many cases present at ~ 2 years of age and have normal intelligence. Clinical features:
Features include:
- severe dwarfism (< 4
ftfoot) - joint laxity
- corneal opacification / clouding
- lymphadenopathy
- progressive deafness
- spinal kyphoscoliosis
- prominent mandible and lower face
- short neck
- deafness
Pathology
It results from an excess of keratan sulphate from a deficit in its degradation pathway. Keratan sulphate accumulates in various tissues inclusive of cartilage, the nucleus pulposus of the intervertebral disc and cornea.
Radiographic features
Conventional radiography/CT / CT
SpinalAxial manifestations
- platyspondyly
- hypoplasia of odontoid peg
atlanto axialatlantoaxial subluxation- os odontoideum
- anterior central vertebral body beaking
- round vertebral bodies
- coxa valga
- goblet shaped flared iliac wings, increased acetabular angles and constricted iliac bone base
Calvarial manifestations
LimbsPeripheral musculoskeletal manifestations
- metaphyseal flaring in long bones
- multiple epiphyseal centres
- wide metacarpals with proximal pointing, irregular carpal bones
- short and wide tubular bones
- proximal point of index to little finger metacarpal
- flattened femoral epiphyses; risk of lateral subluxation and dislocation
- coxa valga
- genu valgum
Pelvis
coxa valgagoblet shaped flared iliac wings, increased acetabular angles and constricted iliac bone base
Sternum and chestThoracic manifestations
- anterior sternal bowing, increased AP chest diameter, wide ribs
Echocardiography
- late onset aortic regurgitation
Treatment and Prognosis
Life expectancy ranges ~ 30 between 30-40 years. MostThe most common cause of death is cervical myelopathy from C2 abnormality. Patients are also particularly vulnerable to respiratory infection.
History and etymology
Named after Luis Morquio, an Uruguayan paediatrician (1867-1935) 5.
-<p><strong>Morquio syndrome</strong> is an autosomal recessive <a href="/articles/mucopolysaccharidoses-2">mucopolysaccharidosis (MPS)</a>, type IV.</p><h4><strong>Epidemiology</strong></h4><p>Incidence estimated in ~1 : 40000 </p><h4><strong>Pathology</strong></h4><p>It results from an excess of Keratan sulphate from a deficit in its degradation pathway. Keratan sulphate accumlates in various tissues inclusive of cartilage, the nucleus pulposus of the intervertabral disc and cornea.</p><h4><strong>Clinical presentation </strong></h4><p>Many cases present at ~ 2 years of age and have normal intelligence</p><h6>Features include:</h6><ul>-<li>severe dwarfism (< 4 ft)</li>- +<p><strong>Morquio syndrome</strong> is an autosomal recessive <a href="/articles/mucopolysaccharidoses-2">mucopolysaccharidosis (MPS)</a>, type IV.</p><h4>Epidemiology</h4><p>Incidence estimated at ~1:40,000 .</p><h4>Clinical presentation</h4><p>Many cases present at ~ 2 years of age and have normal intelligence. Clinical features:</p><ul>
- +<li>severe dwarfism (< 4 foot)</li>
-</ul><h4>Radiographic features</h4><h5>Conventional radiography/CT</h5><h6><strong>Spinal</strong></h6><ul>- +</ul><h4>Pathology</h4><p>It results from an excess of keratan sulphate from a deficit in its degradation pathway. Keratan sulphate accumulates in various tissues inclusive of cartilage, the <a title="Nucleus pulposus" href="/articles/nucleus-pulposus">nucleus pulposus</a> of the <a title="Intervertebral disc" href="/articles/intervertebral-disc">intervertebral disc</a> and cornea.</p><h4>Radiographic features</h4><h5>Conventional radiography / CT</h5><h6><strong>Axial manifestations</strong></h6><ul>
-<li><a href="/articles/atlanto-axial-subluxation">atlanto axial subluxation</a></li>- +<li><a href="/articles/atlanto-axial-subluxation">atlantoaxial subluxation</a></li>
-</ul><h6>Calvarial</h6><ul>- +<li><a title="Coxa valga" href="/articles/coxa-valga">coxa valga</a></li>
- +<li>goblet shaped flared iliac wings, increased acetabular angles and constricted iliac bone base</li>
- +</ul><h6>Calvarial manifestations</h6><ul>
-</ul><h6>Limbs</h6><ul>- +</ul><h6>Peripheral musculoskeletal manifestations</h6><ul>
-</ul><h6>Pelvis</h6><ul>-<li>coxa valga</li>-<li>goblet shaped flared iliac wings, increased acetabular angles and constricted iliac bone base</li>-</ul><h6>Sternum and chest</h6><ul><li>anterior sternal bowing, increased AP chest diameter, wide ribs</li></ul><h5>Echocardiography</h5><ul><li>late onset aortic regurgitation</li></ul><h4>Treatment and Prognosis</h4><p>Life expectancy ranges ~ 30-40 years. Most common cause of death is cervical myelopathy from C2 abnormality. Patients are also particularly vulnerable to respiratory infection.</p><h4>History and etymology</h4><p>Named after <strong>Luis Morquio</strong>, an Uruguayan paediatrician (1867-1935) <sup>5</sup>.</p>- +</ul><h6>Thoracic manifestations</h6><ul><li>anterior sternal bowing, increased AP chest diameter, wide ribs</li></ul><h5>Echocardiography</h5><ul><li>late onset aortic regurgitation</li></ul><h4>Treatment and Prognosis</h4><p>Life expectancy ranges between 30-40 years. The most common cause of death is cervical myelopathy from C2 abnormality. Patients are also particularly vulnerable to respiratory infection.</p><h4>History and etymology</h4><p>Named after <strong>Luis Morquio</strong>, an Uruguayan paediatrician (1867-1935) <sup>5</sup>.</p>
Sections changed:
- Syndromes
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