Poster from the revised article "Spinal involvement in Mucopolysaccharidoses" (A.Leone, Childs Nerv. Syst., 2015). Reviewd by Russell Oulette and Anna Hildenbrand Michelman I Karolinska Institutet.

1. CONCLUSION
The radiological findings at XR, CT and MRI in the patients
affected with Mucopolysaccharidoses (MPS) are important
to give a common clinical radiological knowledge base to
guide the screening, the diagnosis for the subsequent
surgical intervention and the follow-up whose abnormalities
are chronic, progressive and often debilitating. Since early
diagnosis is crucial to plan a timely treatment in a
multidisciplinary team according to the expertise and the
experience of clinicians; the correlation of the radiological
findings with the clinical signs and symptoms is necessary.
BACKGROUND
MPS are clinically heterogeneous multisystemic diseases,
often involving the spine. Bony abnormalities of the spine
included in the so-called dysostosis multiplex (fig.1) and
Glycosaminoglycans (GAGs) deposits in the dura mater and
supporting ligaments can result in spinal cord compression,
which can lead to compressive myelopathy.
Fig.1) MPS IVA in a 21-year-old man. a,b – Sagittal reformatted CT
images of the lumbar spine (a) and thoracolumbar junction (b) show
some typical thoracolumbar spine changes including platyspondyly,
anterior beaking within the midportion of the vertebral bodies (small
arrows in a and b) and posterior scalloping of the vertebral bodies
(arrows in a and b).
PURPOSE
The aim of this review article was to provide the required
clinical deep knowledge that radiologists need to know and
the relevant imaging knowledge that clinicians require in
diagnosing spinal involvement in MPS.
METHODS
Radiography (XR), computerized tomography (CT), and
magnetic resonance (MR) imaging of the spine were
performed for screening patients with MPS, optimizing the
time for surgical intervention and for assessing the impact of
treatment.
.
RESULTS
Mucopolysaccharidosis is a congenital set of inheritable
lysosomal storage pathologies caused by mutations in
the genes coding for enzymes involved in the catabolism
of different GAGs. Spinal involvement of MPS (Fig.2) is
the major cause of morbidity and mortality and requires
a common radiological basis for a multidisciplinary
approach because of the multiorgan nature of the
disease at the very early stages to prevent or arrest
neurological deterioration and the loss of function. Spinal
abnormalities which are the most prominent features
and the common denominator of many MPS types are
chronic, progressive, often debilitating, and one of the
major causes of mortality. They may be evaluated by
such imaging modalities as radiography, CT, and MR
imaging which are also useful tools for surgical planning
and follow-up. Early diagnosis and timely treatment of
spinal involvement are critical in preventing or arresting
neurological damage and improving patient outcomes.
the time for surgical intervention and for assessing the
impact of treatment.
Fig.2) MPS IVA in a 21-year-old man. Sagittal MR images obtained 7
days after suboccipital craniotomy and C1 laminectomy. a) T2-weighted
image of cervicothoracic spine showing significatn regression of spinal
cord edema, focal areas of edema (arrows) associated with mild spinal
cord thickening (small arrows) persist at C4-7 and mid-thoracic levels.
b) T2-weighted image of cervical spine shows partial regression of the
small area of intramedullary increased signal due to compressive
myelopathy (arrow).
The multi-glimpse teaching spectrum of Mucopolysaccharidoses
Daniele Amato, Nicola Magarelli, Antonio Leone
FUTURE PERSPECTIVES: The use of
Artificial Intelligence (AI) applied to the
diagnosis and the management of the
patients with MPS.
Daniele Amato, Radiology I Catholic University of the Sacred Heart – Universitetet i Bergen – Karolinska Institutet
daniele.amato@stud.ki.se +39 3935236763