Spinal involvement in mucopolysaccharidoses: a review

Area of Science:

• Medical Genetics
• Radiology
• Neurology

Background:

• Mucopolysaccharidoses (MPS) are inherited lysosomal storage diseases due to enzyme deficiencies in glycosaminoglycan (GAG) catabolism.
• These multisystemic diseases frequently involve the spine, leading to dysostosis multiplex and GAG deposition.
• Spinal cord compression from GAG deposits and bony abnormalities can cause significant neurological deficits and mortality.

Purpose of the Study:

• To bridge the knowledge gap between radiologists and clinicians regarding spinal involvement in MPS.
• To provide radiologists with essential clinical insights into MPS.
• To equip clinicians with critical radiological information for diagnosing and managing spinal MPS.

Main Methods:

• Review article synthesizing clinical and radiological data on spinal MPS.
• Focus on radiological semiotics relevant to diagnosing spinal abnormalities in MPS.
• Emphasis on the multidisciplinary management approach for MPS.

Main Results:

• Spinal involvement is a major cause of morbidity and mortality in certain MPS types (e.g., MPS IVA, VI, I).
• Early and accurate radiological diagnosis is vital for preventing neurological deterioration.
• Understanding radiological findings aids in timely intervention and management.

Conclusions:

• Effective management of MPS, particularly spinal involvement, necessitates a multidisciplinary approach.
• Shared knowledge between radiologists and clinicians is essential for optimal patient care.
• This review aims to enhance collaboration by providing specialized knowledge to both groups.