Adjunct Diagnostic Value of Radiological Findings in Mucopolysaccharidosis Type IVa-related Thoracic Spinal Abnormalities: a Pilot Study

Overview

Journal Orphanet J Rare Dis

Publisher Biomed Central

Specialty General Medicine

Date 2022 Jul 29

PMID 35906705

Authors

Ya-Ting Jan

Pei-Shan Tsai

Wen-Hui Huang

Shih-Chieh Huang

Yu-Peng Liu

She-Meng Cheng

Kun-Shuo Huang

Affiliations

Soon will be listed here.

Abstract

Background: In patients with mucopolysaccharidosis (MPS), systematic assessment and management of cervical instability, cervicomedullary and thoracolumbar junction spinal stenosis and spinal cord compression averts or arrests irreversible neurological damage, improving outcomes. However, few studies have assessed thoracic spinal involvement in MPS IVa patients. We aimed to evaluate thoracic spinal abnormalities in MPS IVa patients and identify associated image manifestations by CT and MRI study.

Results: Data of patients diagnosed and/or treated for MPS IVa at MacKay Memorial Hospital from January 2010 to December 2020 were extracted from medical records and evaluated retrospectively. Computed tomography (CT), plain radiography and magnetic resonance imaging (MRI) findings of MPS IVa-related spinal abnormalities were reviewed. Spine CT and plain radiography findings of 12 patients (6 males and 6 females with median age 7.5 years, range 1-28 years) revealed two subtypes of spinal abnormalities: thoracic kyphosis apex around T2 (subtype 1, n = 8) and thoracic kyphosis apex around T5 (subtype 2, n = 4). Spine CT and plain radiography clearly identified various degrees of thoracic kyphosis with apex around T2 or T5 in MPS IVa patients. Square-shaped to mild central beaking in middle thoracic vertebral bodies was observed in subtype 1 patients, while greater degrees of central beaking in middle thoracic vertebral bodies was observed in subtype 2 patients.

Conclusions: Spine CT findings clearly identify new radiological findings of thoracic kyphosis apex around T2 or T5 in MPS IVa patients. The degrees of central beaking at middle thoracic vertebral bodies may be a critical factor associated with different image presentations of thoracic kyphosis.

References

Leone A, Rigante D, Amato D, Casale R, Pedone L, Magarelli N . Spinal involvement in mucopolysaccharidoses: a review. Childs Nerv Syst. 2014; 31(2):203-12. DOI: 10.1007/s00381-014-2578-1. View

Cleary M, Wraith J . The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr. 1995; 84(3):337-9. DOI: 10.1111/j.1651-2227.1995.tb13640.x. View

Koele M, Lems W, Willems H . The Clinical Relevance of Hyperkyphosis: A Narrative Review. Front Endocrinol (Lausanne). 2020; 11:5. PMC: 6993454. DOI: 10.3389/fendo.2020.00005. View

Lehman T, Miller N, Norquist B, Underhill L, Keutzer J . Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford). 2012; 50 Suppl 5:v41-8. DOI: 10.1093/rheumatology/ker390. View

Rasalkar D, Chu W, Hui J, Chu C, Paunipagar B, Li C . Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine. Br J Radiol. 2011; 84(1001):469-77. PMC: 3473658. DOI: 10.1259/bjr/59197814. View

Hughes D, Chadderton R, Cowie R, Wraith J, Jenkins J . MRI of the brain and craniocervical junction in Morquio's disease. Neuroradiology. 1997; 39(5):381-5. DOI: 10.1007/s002340050429. View

Brands M, Gungor D, van den Hout J, Karstens F, Oussoren E, Plug I . Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey. J Inherit Metab Dis. 2014; 38(2):323-31. DOI: 10.1007/s10545-014-9737-0. View

Terai H, Nakamura H . Surgical Management of Spinal Disorders in People with Mucopolysaccharidoses. Int J Mol Sci. 2020; 21(3). PMC: 7037985. DOI: 10.3390/ijms21031171. View

Mackenzie W, Dhawale A, Demczko M, Ditro C, Rogers K, Bober M . Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective?. J Pediatr Orthop. 2012; 33(1):91-8. DOI: 10.1097/BPO.0b013e318279c51f. View

10.

Solanki G, Sun P, Martin K, Hendriksz C, Lampe C, Guffon N . Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP). Mol Genet Metab. 2016; 118(4):310-8. DOI: 10.1016/j.ymgme.2016.06.001. View

11.

Sawamoto K, Alvarez Gonzalez J, Piechnik M, Otero F, Couce M, Suzuki Y . Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. Int J Mol Sci. 2020; 21(4). PMC: 7073202. DOI: 10.3390/ijms21041517. View

12.

White K, Harmatz P . Orthopedic management of mucopolysaccharide disease. J Pediatr Rehabil Med. 2011; 3(1):47-56. DOI: 10.3233/PRM-2010-0102. View

13.

Northover H, Cowie R, Wraith J . Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis. 1996; 19(3):357-65. DOI: 10.1007/BF01799267. View

14.

Mollmann C, Lampe C, Muller-Forell W, Scarpa M, Harmatz P, Schwarz M . Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome). JIMD Rep. 2013; 11:65-72. PMC: 3755552. DOI: 10.1007/8904_2013_223. View

15.

BLAW M, LANGER L . Spinal cord compression in Morquio-Brailsford's disease. J Pediatr. 1969; 74(4):593-600. DOI: 10.1016/s0022-3476(69)80043-0. View

16.

Montano A, Tomatsu S, Gottesman G, Smith M, Orii T . International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. 2007; 30(2):165-74. DOI: 10.1007/s10545-007-0529-7. View

17.

Tomatsu S, Montano A, Oikawa H, Smith M, Barrera L, Chinen Y . Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol. 2011; 12(6):931-45. DOI: 10.2174/138920111795542615. View

18.

Lachman R, Martin K, Castro S, Basto M, Adams A, Leao Teles E . Radiologic and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2011; 3(2):109-18. DOI: 10.3233/PRM-2010-0115. View

19.

Roberts S, Tsirikos A . Thoracolumbar kyphoscoliosis with unilateral subluxation of the spine and postoperative lumbar spondylolisthesis in Hunter syndrome. J Neurosurg Spine. 2015; 24(3):402-6. DOI: 10.3171/2015.6.SPINE15268. View

20.

Simonaro C, DAngelo M, He X, Eliyahu E, Shtraizent N, Haskins M . Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am J Pathol. 2007; 172(1):112-22. PMC: 2189614. DOI: 10.2353/ajpath.2008.070564. View