Morquio Syndrome

Case contributed by Dane Gunter

Presentation

Presented with fall. Known history of chronic disease.

Patient Data

Age: 40 years
Gender: Female
X-ray

Cervical Spine

Platyspondyly of the cervical spine with anterior beaking of the vertebral bodies best shown at C5. The patient also has posterior cervical fusion of the upper cervical spine. 

MRI

Spine

Diffuse platyspondyly of the cervical, thoracic, and lumbar spine.

X-ray

Pelvis

Squaring of the iliac bones, left atrophic neuropathic hip, and coxa valga deformity of the right femur with acetabular hypoplasia.

X-ray

Right hand

Shortening of the metacarpals with hypoplasia of the carpal bones and distal radius/ulna.

Case Discussion

We present a case of Morquio syndrome, which is an autosomal recessive condition that is classified as a lysosomal storage disorder. The syndrome results from abnormal accumulation of mucopolysaccharides due to deficiency of the enzyme N-acetyl-galactosamine-9-sulphate sulphatase. The disorder primarily presents with skeletal abnormalities, some of which can be seen in the images provided. The disease also causes extreme short stature. 

Some common radiological findings of Morquio syndrome include platyspondyly of the cervical and thoracic vertebrae, anterior beaking of the cervical vertebral bodies, thoracolumbar kyphosis, odontoid process hypoplasia, and coxa valga of the hip joints. The disease is progressive and often results in death secondary to spinal cord involvement. Instability of the atlantoaxial joint is almost invariably found in patients with this condition and has the potential to result in spinal cord compression or sudden death if not detected and treated early. The C1-C2 joint is commonly fused surgically to prevent atlantoaxial dislocation as seen in this patient. The thoracolumbar spine is often severely kyphotic and can result in spinal cord compression and paraplegia.

Case contributed by Dr. N. Larocque.

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Case information

rID: 68820
Published: 23rd Jun 2019
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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