Mukopolysaccharidose Typ IV

Morbus

Morquio mucopolysaccharidosis IV X-ray showing typical articular changes

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

Morquio

syndrome • Morquio syndrome - hand - Ganzer Fall bei Radiopaedia

Niknejad M, Morquio syndrome - hand. Case study, Radiopaedia.org (Accessed on 20 Mar 2023) https://doi.org/10.53347/rID-20857 • CC by-nc-sa 3.0 (modified)

Morquio

syndrome • Morquio syndrome - Ganzer Fall bei Radiopaedia

Foladi N, Morquio syndrome. Case study, Radiopaedia.org (Accessed on 20 Mar 2023) https://doi.org/10.53347/rID-73495 • CC by-nc-sa 3.0 (modified)

Morquio

syndrome • Morquio Syndrome - Ganzer Fall bei Radiopaedia

Gunter D, Morquio Syndrome. Case study, Radiopaedia.org (Accessed on 20 Mar 2023) https://doi.org/10.53347/rID-68820 • CC by-nc-sa 3.0 (modified)

Mucopolysaccharidoses

• Mucopolysaccharidoses - Ganzer Fall bei Radiopaedia

Qaqish N, Mucopolysaccharidoses. Case study, Radiopaedia.org (Accessed on 26 Nov 2022) https://doi.org/10.53347/rID-84146 • CC by-nc-sa 3.0 (modified)

Morquio

syndrome • Morquio syndrome - Ganzer Fall bei Radiopaedia

Pringle M, Morquio syndrome. Case study, Radiopaedia.org (Accessed on 20 Mar 2023) https://doi.org/10.53347/rID-159546 • CC by-nc-sa 3.0 (modified)

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

Morquio

syndrome spinal findings. Diffuse thoracolumbar endplate irregularity with scattered thoracolumbar vertebral body height loss.

www.eurorad.org • CC by-nc-sa-4.0

Morquio

syndrome spinal findings. Dysmorphic pattern of lower thoracic and lumbar vertebra with anterior and posterior wedge deformities at upper lumbar segments and multilevel platyspondylia.

www.eurorad.org • CC by-nc-sa-4.0

Radiopaedia • CC-by-nc-sa 3.0 • de

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

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

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

late-onset aortic regurgitation

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.