Mukopolysaccharidose

Morbus
Morquio mucopolysaccharidosis IV X-ray showing typical articular changes
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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 short stature. Sagittal CT without contrast of the cervical spine (left) and thoracolumbar spine (right) shows the vertebral bodies to be hypoplastic and oval in appearance and to be beaked anteriorly. There is a gibbus deformity at the thoracolumbar junction. Overall there is diffuse platyspondyly of the spine.The diagnosis was mucopolysaccharidoses type VI.
pediatricimaging.org • CC-by-nc-sa 4.0
Mitral valve
regurgitation • Acute pulmonary edema, mitral regurgitation and mucopolysaccharidosis - Ganzer Fall bei Radiopaedia
Hacking, C. Acute pulmonary edema, mitral regurgitation and mucopolysaccharidosis. Case study, Radiopaedia.org. (accessed on 24 Oct 2022) https://doi.org/10.53347/rID-56239 • CC by-nc-sa 3.0 (modified)
Radiopaedia • CC-by-nc-sa 3.0 • de

Mucopolysaccharidoses (MPS) constitute a group of hereditary disorders, one of a number of lysosomal storage disorders, having in common an excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes (lysosomal hydrolases) responsible for degradation of mucopolysaccharides (also known as glycosaminoglycans) .

Several distinctive types of mucopolysaccharidoses have been described, each with distinctive clinical and radiologic features. Hurler (MPS-IH) and Morquio syndrome (MPS-IV) are perhaps most well known radiographically.

Epidemiology

Mucopolysaccharidoses are rare with an overall estimated incidence of 1:25,000 . Most are inherited as autosomal recessive traits, similar to most other enzyme deficiencies (MPS type II is the exception, inherited as an X-linked mutation) .

Diagnosis

The specific diagnosis of any of these conditions is made on the basis of the patient's age at onset, the level of neurologic stunting, the amount of corneal clouding, and other clinical features. With the exception of Morquio syndrome, all the mucopolysaccharidoses are marked by excessive urinary excretion of glycosaminoglycans; dermatan sulfate, keratan sulfate, chondroitin sulfate, hyaluronan and heparan sulfate .

Subtypes

See also

Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Mukopolysaccharidose:
Makrozephalie
 
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Maroteaux-Lamy-Syndrom
 
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Mukopolysaccharidose
Typ I-H
pediatricimaging.org • CC-by-nc-sa 4.0
Mukopolysaccharidose
Typ IV
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