Morbus Morquio

Morbus
Morquio mucopolysaccharidosis IV X-ray showing typical articular changes
Wikipedia • CC BY-SA 4.0
Preschooler
with short stature. AP radiograph of the thoracolumbar spine (left) shows ribs that are widened but then taper at their vertebral insertions (oar-shaped ribs). Lateral radiograph of the thoracolumbar spine (right) shows the vertebral bodies to be hypoplastic and oval in appearance and to be beaked anteriorly, resulting in a gibbus deformity at the thoracolumbar junction. Overall there is diffuse platyspondyly of the spine.The diagnosis was mucopolysaccharidoses type IV – Morquio syndrome.
pediatricimaging.org • CC-by-nc-sa 4.0
Preschooler
with abnormal gait. AP radiograph of the pelvis shows bilateral flattening of the proximal femoral epiphyses with bilateral subluxation and dislocation of the femoral heads.The diagnosis was Morquio syndrome.
pediatricimaging.org • CC-by-nc-sa 4.0
Preschooler
with kyphosis. Lateral radiograph of the spine shows central beaking of the anterior aspect of the vertebral bodies resulting in a short-segment thoracolumbar kyphosis (gibbus deformity). There is also diffuse flattening of the vertebral bodies (platyspondyly).The diagnosis was Morquio syndrome.
pediatricimaging.org • CC-by-nc-sa 4.0
Preschooler
with kyphosis. AP radiograph of the hands shows bilaterally wide metacarpals, irregular carpal bones and metaphyseal flaring in the distal radius and ulna.The diagnosis was Morquio syndrome.
pediatricimaging.org • CC-by-nc-sa 4.0
Preschooler
with thoracolumbar kyphosis. Lateral vintage conventional tomogram in the midline of the cervical spine shows hypoplasia of the odontoid process of the C2 vertebral body.The diagnosis was Morquio syndrome.
pediatricimaging.org • CC-by-nc-sa 4.0
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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 disks and corneas.

Radiographic features

Plain radiograph / CT
Axial manifestations
Calvarial manifestations
Peripheral musculoskeletal manifestations
  • metaphyseal flaring in long bones
  • multiple epiphyseal centers
  • wide metacarpals with proximal pointing, irregular carpal bones 
  • short and wide tubular bones
  • pointed proximal metacarpals of index to little finger
  • flattened femoral epiphyses; risk of lateral subluxation and dislocation
  • coxa valga
  • genu valgum
Thoracic manifestations
  • anterior sternal bowing, increased AP chest diameter, wide ribs
Echocardiography

Treatment and Prognosis

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 pediatrician (1867-1935) . James Brailsford (1889-1961) a renowned British radiologist made an important contribution to the understanding of the radiographic appearances of this condition.

Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Mukopolysaccharidose Typ IV:
Os
odontoideum
Wikipedia • CC BY-SA 3.0
Hypertelorismus
 
Wikipedia • CC BY-SA 3.0
Platyspondylie
 
ped-rheum.biomedcentral.com • CC-by-2.0
Mukopolysaccharidose
 
Wikipedia • CC BY-SA 4.0
Dolichocephalie
 
bmcmedgenet.biomedcentral.com • CC-by-2.0
atlantoaxiale
Subluxation
pediatricimaging.org • CC-by-nc-sa 4.0