To describe the different clinical types of mucopolysaccharidoses based on the deficient enzymes and their clinical characteristics. To describe the skeletal manifestations of the disorder collectively called as dysostosis multiplex encountered in the axial and the appendicular skeleton. To evaluate the role of skeletal x rays and MRI in imaging and to make a possible diagnosis of mucopolysaccharidoses.
The mucopolysaccharidoses (MPSs) are a group of heterogeneous,
Inherited lysosomal disorders caused by mutation of genes coding for lysosomal enzymes needed to degrade glycosaminoglycans (1).
They are a group of progressive disorders characterised by multisystem involvement with multi organ failure and reduced life expectancy (2).
These diseases are characterized by an accumulation of partially degraded GAG within lysosomes and the elevation of GAG fragments in urine,
blood and cerebral...
Findings and procedure details
The most important radiological manifestations of mucoplysaccharidosis occurs in the skeletal system which includes both the axial and the appendicular skeleton which is collectively called as multiplex dysostosis (TABLE 2) (15). Dysostosis multiplex Skull Macrocephaly with dolicocephaly,
Vertical frontal crest,
Abnormal J-shaped sella turcica,
thickened cortical bone,
Lack of pneumatization of mastoid and paranasal sinuses,
Obtuse mandibular angle with prognathism,
widely spaced teeth Thorax...
X-ray and CT/MRI may show specific skeletal and neurologic features in MPS patients,
although it is not possible to accurately differentiate between MPS types based on radiological and neuroradiological characteristics. The evaluation of these imaging findings is useful for suggesting and supporting MPS as a possible diagnosis,
for monitoring the chronic and progressive course of the disease,
for surgical and medical planning and for assessing the impact of therapy.
Dr.I.Gurubharath MD.,Ph.D Author Professor and HOD Department of Radiodiagnosis, Shri Sathya Sai Medical College and Research Institute,
Tamil Nadu Email Id: firstname.lastname@example.org Dr.
Leena.B.K Co Author Post Graduate, Department of Radiodiagnosis, Shri Sathya Sai Medical College and Research Institute,
Tamil Nadu Email Id: email@example.com
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Intrathecal enzyme replacement therapy in a patient with...