-To know the different types of mucopolysaccharidosis (MPS),
as well as its broad manifestations in cerebral and spine MRI.
-To know the evolution of the image findings with the passage of time,
as well as to know the effectiveness of the current treatments that condition a greater or lesser radiological progression of the disease.
Mucopolysaccharidoses are chronic diseases of lysosomal deposit,
progressive and multisystemic,
caused by deficiency of enzymes that degrade mucopolysaccharides,
which causes a deposit in multiple tissues,
including brain tissue,
as well as causes alterations in the spine.
Through a review of cases of children with MPS from our hospital,
typical images are described,
mainly from the MPS type I (Hurler).
Findings and procedure details
Mucopolysaccharidoses (MPS) are chronic,
progressive and multisystemic disorders whose pathological basis is an alteration in the lysosomal deposit due to deficiency of the enzymes that degrade the mucopolysaccharides,
which causes an accumulation of them at the visceral level,
musculoskeletal alterations and a abnormal urine elimination of these substances.
Clinical suspicion is essential to make the diagnosis,
and radiological imaging methods and the determination of mucopolysaccharides in urine will establish a solid diagnosis,
although the definitive diagnosis requires specific molecular and enzymatic studies.
MPS present a wide range of radiological manifestations in neuro-MRI,
some of them typical (enlarged perivascular spaces,
delay in myelination,
cerebral atrophy and stenosis od the cervical spinal canal by soft tissue material around the atlo-axoid joint,
with or without compressión of the spinal cord).
Radiology plays a fundamental role in the diagnosis and the follow-up of the disease (possible complications such as worsening stenosis of the craniocervical hinge,
hydrocephalus or compression of the cord and can be treated quickly to avoid permanent...
de Souza CF,
Vedolin LM. Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know.
Mucopolysaccharidoses: overview of neuroimaging manifestations.
Epub 2018 May 11.
Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis.Pediatr Radiol.
Epub 2017 Jul 21.