Learning objectives
The purpose of this educational exhibit was to provide the relevant radiological semiotics that radiologists need to know in the interest of the management of spinal involvement in mucopolysaccharidoses (MPS).
Background
MPS represent a rare group of inheritable lysosomal storage diseases caused by genetic mutations of enzymes involved in catabolism of different long-chain complex carbohydrates known as mucopolysaccharides or glycosaminoglycans (GAGs) [1].
Enzyme deficiency or malfunction gives rise to abnormal development and maturation of cartilage and bone as well as partly degraded GAGs deposits in the meninges and supporting ligaments,
resulting in clinically heterogeneous multisystemic diseases.
MPS were originally described by Hunter in 1917 [2] and then many similar cases were described during the following years....
Findings and procedure details
Spinal Involvement
Vertebral abnormalities
In the spine,
dysostosis multiplex includes:
flattening and elongation of the vertebral bodies (platyspondyly);
wedge-shaped vertebral bodies with anterior beaking and posterior scalloping,
particularly at the thoracolumbar junction (Fig. 1);
thoracolumbar kyphosis,
which often results from the combination of an anterior beak and vertebral flattening at T12,
L1 or L2 level (Fig. 1).
The apex of the kyphosis is usually located at the L2 vertebra;
progressive lumbar gibbus deformity;
anomalies of the posterior vertebral elements such as hypoplasia of the superior...
Conclusion
Radiography is typically included in the initial imaging evaluation of suspected or diagnosed MPS.
Standard radiography allows the detection of gross anomalies of the spine whereas functional radiography is important for the diagnosis of intervertebral instability.
CT is more accurate than radiography and MR imaging for demonstrating vertebral abnormalities and,
therefore,
it is fundamental in pre-surgical planning.
Furthermore,
it may be preferred in patients with limited cooperation.
MR imaging is currently by far the most commonly used imaging modality for evaluating the complications of MPS,...
Personal information
A.
Semprini,
Instituteof Radiology,
Catholic University,
School of Medicine,
Largo A.
Gemelli 8,
00168,
Rome/Italy.
A.
Leone,
Instituteof Radiology,
Catholic University,
School of Medicine,
Largo A.
Gemelli 8,
00168,
Rome/Italy.
L.
Tonetti,
Instituteof Radiology,
Catholic University,
School of Medicine,
Largo A.
Gemelli 8,
00168,
Rome/Italy.
V.
Zecchi,
Instituteof Radiology,
Catholic University,
School of Medicine,
Largo A.
Gemelli 8,
00168,
Rome/Italy.
M.
Marino,
Instituteof Radiology,
Catholic University,
School of Medicine,
Largo A.
Gemelli 8,
00168,
Rome/Italy.
C.
Colosimo,
Instituteof Radiology,
Catholic University,
School of Medicine,
Largo...
References
[1] Leone A,
Rigante D,
Amato DZ et al.
Spinal involvement in mucopolysaccharidoses: a review.
Childs Nerv Syst 2015; 31:203-212.
[2] Hunter C.
A Rare Disease in Two Brothers.
Proc R sac Med 1917; 10 (Sect Study Dis Child):104-116.
[3] Neufeld EF and Muenzer J (2001).
The mucopolysaccharidoses.
in: Scriver CR,
Beaudet AL,
Sly WS and Valle D,
Childs B,
Kinzler KW,
Vogelstein B,
(eds) The metabolic and molecular bases of inherited disease,
8th edn.
McGraw-Hill Medical Publishing Division,
New York,
pp 3421-3452.
[4] Field...