EC Neurology

Research Article Volume 15 Issue 4 - 2023

MRI Features of Brain and Spine in Patients Series with Mucopolysaccharidosis

Khadija Laasri1*, Abderrazzak Ajertil2, Manal Jidal1, Siham El Haddad1, Nazik Allali1, Abdeljalil El Quassar2 and Latifa Chat1

1Pediatric Radiology Department, Children’s Hospital, Ibn Sina Hospital, Mohamed V University, Rabat, Morocco
2Radiology Department, Cheikh Zaid’s Hospital, International University Hospital, Rabat, Morocco

*Corresponding Author: Khadija Laasri, Pediatric Radiology Department, Children’s Hospital, Ibn Sina Hospital, Mohamed V University, Rabat, Morocco.
Received: March 09, 2023; Published: March 15, 2023



Background: Mucopolysaccharidosis represent a group of rare hereditary disorders characterized by multisystem involvement due to intralysosomal glycosaminoglycans accumulation. Central and peripheral nervous systems are both affected by almost all types of disease among various tissue. Therefore, brain and spinal MRI are valuable tools for assessing neurologic involvement, and there is evidence that they may be accurate indicators of disease severity and the efficacy of current treatment options in patients with MPS.

Aim: To describe the magnetic resonance imaging findings of the brain and spine in patients with mucopolysaccharidosis and correlate them with the type of MPS and clinical severity, and finally to compare these findings with those previously reported.

Materials and Methods: Retrospective evaluation was conducted of brain and spine MRI of 12 patients diagnosed with MPS from 2021 to this day, of these patients, 8 had type I (6 with Hurler syndrome and 2 with Hurler-Scheie syndrome), 2 had type II or Hunter syndrome (1 with the severe form and 1 with the mild form), 1 had type III or Sanfilippo syndrome and 1 had type VI or Maroteaux-Lamy syndrome.

Results: We enrolled 12 patients affected by MSP (07 females and 06 males, age range 5 - 14 years at the time of MRI). We observed a wide spectrum of MRI anomalies. In brain MRI: perivascular space enlargements (n = 08/12; 20%), white matter signal alterations (n = 06/12; 15%), ventriculomegaly/hydrocephalus (n = 05/12; 12%), Cortical and subcortical cerebral atrophy (n = 04/12; 10%), Posterior fossa abnormalities (n = 04/12; 10%), arachnoid cyst (n = 04/12; 10%), closed meningo-encephalocele (n = 02/12; 5%), bilateral optic nerve sheaths enlargement (n = 02/12; 5%), craniosynostosis (scaphocephaly: n = 04/12; 10%), morphological abnormality of sella turcica (n = 01/12; 3%). In spine MRI: periodontoid soft-tissue thickening (n = 07/12; 20%), spinal canal stenosis (n = 07/12; 20%), cord compression (n = 04/12; 11%), myelopathy (n = 02/12; 6%), syringomyelia (n = 02/12; 6%), Odontoid hypoplasia (n = 03/12; 8%), morphological abnormality of vertebral bodies (n = 07/12; 20%), kyphosis (n = 02/12; 6%), scoliosis (n = 01/12; 3%).

Conclusion: The spectrum of brain and spinal MRI abnormalities in MPS is extremely broad (Perivascular space enlargements, white matter signal alterations, ventriculomegaly/hydrocephalus, cerebral atrophy, periodontoid soft-tissue thickening, spinal canal stenosis; with/or without cord compression or myelopathy, vertebral/skull abnormalities). Therefore, given these abnormalities, we should be aware of this possible diagnosis, especially when typical signs and symptoms are present. However, we did not find a correlation between these findings and either any specific type of MPS or clinical severity.

Keywords: Mucopolysaccharidosis; Glycosaminoglycans; Magnetic Resonance Imaging; Brain; Spine

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Khadija Laasri., et al. “MRI Features of Brain and Spine in Patients Series with Mucopolysaccharidosis”. EC Neurology  15.4 (2023): 53-69.

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