Morquio syndrome
Updates to Article Attributes
Morquio syndrome (in older literature it is sometimes called Morquio-Brailsford syndrome) is an autosomal recessive mucopolysaccharidosis (MPS) type IV.
Epidemiology
Incidence estimated at ~1:40,000.
Clinical presentation
Many cases present at ~2 years of age and have normal intelligence. Clinical features:
- severe dwarfism (<4 foot)
- joint laxity
- corneal opacification/clouding
- lymphadenopathy
- progressive deafness
- spinal kyphoscoliosis
- prominent mandible and lower face
- short neck
Pathology
It results from an excess of keratan sulphate due to a deficit in its degradation pathway. Keratan sulphate accumulates in various tissues inclusive of cartilage, the nucleus pulposus of the intervertebral disksdiscs and corneas.
Radiographic features
Plain radiograph / CT
Axial manifestations
- platyspondyly
- hypoplasia of odontoid peg
- atlantoaxial 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
Peripheral musculoskeletal manifestations
- short and wide tubular bones
- metaphyseal flaring in long bones
- multiple epiphyseal centers
- wide metacarpals with proximal pointing of index to little finger
- irregular carpal bones
- flattened proximal femoral epiphyses; risk of lateral subluxation and dislocation
- coxa valga
- genu valgum
Thoracic manifestations
- anterior sternal bowing, increased AP chest diameter, wide ribs
Echocardiography
- late-onset aortic regurgitation
Treatment and Prognosisprognosis
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.
History and etymology
Named after Luis Morquio, an Uruguayan paediatrician (1867-1935) 5. James Brailsford (1889-1961) 6 a renowned British radiologist made an important contribution to the understanding of the radiographic appearances of this condition.
-</ul><h4>Pathology</h4><p>It results from an excess of keratan sulphate due to a deficit in its degradation pathway. Keratan sulphate accumulates in various tissues inclusive of cartilage, the <a href="/articles/nucleus-pulposus">nucleus pulposus</a> of the <a href="/articles/intervertebral-disc">intervertebral disks</a> and corneas.</p><h4>Radiographic features</h4><h5>Plain radiograph / CT</h5><h6>Axial manifestations</h6><ul>- +</ul><h4>Pathology</h4><p>It results from an excess of keratan sulphate due to a deficit in its degradation pathway. Keratan sulphate accumulates in various tissues inclusive of cartilage, the <a href="/articles/nucleus-pulposus">nucleus pulposus</a> of the <a href="/articles/intervertebral-disc">intervertebral discs</a> and corneas.</p><h4>Radiographic features</h4><h5>Plain radiograph / CT</h5><h6>Axial manifestations</h6><ul>
-<a title="Metaphyseal flaring" href="/articles/erlenmeyer-flask-deformity-1">metaphyseal flaring</a> in long bones</li>- +<a href="/articles/erlenmeyer-flask-deformity-1">metaphyseal flaring</a> in long bones</li>
-</li></ul><h4>Treatment and Prognosis</h4><p>Life expectancy ranges between 30-40 years. The most common cause of death is cervical <a href="/articles/compressive-myelopathy">myelopathy</a> 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>. <strong>James Brailsford </strong>(1889-1961) <sup>6</sup> a renowned British radiologist made an important contribution to the understanding of the radiographic appearances of this condition.</p>- +</li></ul><h4>Treatment and prognosis</h4><p>Life expectancy ranges between 30-40 years. The most common cause of death is cervical <a href="/articles/compressive-myelopathy">myelopathy</a> 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>. <strong>James Brailsford </strong>(1889-1961) <sup>6</sup> a renowned British radiologist made an important contribution to the understanding of the radiographic appearances of this condition.</p>