Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features

Conclusion: The abnormal cranial MRI findings of the MPS patients, including the newly identified IHOMS, may provide diagnostic clues to differentiate the type of the disease in radiological imaging.

📌 3 Key Takeaways

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Objective & Hypothesis:Background/aim: Mucopolysaccharidoses MPS are a group of hereditary metabolic diseases.

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Key Findings & Data:Materials and methods: A retrospective evaluation was conducted of 80 cranial MRIs of patients who had been diagnosed and followed up with MPS from 2008 to 2019 in our center.

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Conclusion & Impact:Conclusion: The abnormal cranial MRI findings of the MPS patients, including the newly identified IHOMS, may provide diagnostic clues to differentiate the type of the disease in radiological imaging.

🔬Design:Research Article

📍Scope:2008 Verileri

⚙️Variables:Lysosomal storage diseases · glycosaminoglycans · mucopolysaccharidosis

Abstract

Background/aim: Mucopolysaccharidoses MPS are a group of hereditary metabolic diseases. The aim of this study was to share the previously unreported calvarial finding of internal hypertrophy of the occipitomastoid sutures IHOMS together with some other well- known cranial MRI findings in this patient series. Materials and methods: A retrospective evaluation was conducted of 80 cranial MRIs of patients who had been diagnosed and followed up with MPS from 2008 to 2019 in our center. Of these patients, 11 had Hurler, 14 had Hunter, 24 had Sanfilippo, 15 had Morquio, 14 had Maroteaux-Lamy, and 2 had Sly disease. The cranial MRIs were assessed in two main groups as parenchymal intradural cranial MRI findings and extradural calvarial findings. Results: The most common parenchymal intradural cranial MRI findings were white matter signal alterations n = 51, 63% and perivascular space enlargements n = 39, 48% . The most common extradural calvarial findings were J-shaped sella n = 45, 56% and tympanic effusion n = 44, 55% . Although IHOMS was defined in a relatively small number of the patients n = 12, 15% , the prevalence rate was high in MPS type I n = 6, 54% . Conclusion: The abnormal cranial MRI findings of the MPS patients, including the newly identified IHOMS, may provide diagnostic clues to differentiate the type of the disease in radiological imaging.

Keywords

Lysosomal storage diseases glycosaminoglycans mucopolysaccharidosis magnetic resonance imaging internal hypertrophy of the occipitomastoid sutures

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Cite This Article

DAMAR, Ç., DERİNKUYU, B. E., KILIÇKAYA, M. A. B. O., ÖZTÜRK, M., ÖZTUNALI, Ç., ALIMLI, A. G., BOYUNAGA, Ö. L., UÇAR, M., EZGÜ, F. S., TÜMER, L., BÖRCEK, A. Ö., SIĞIRCI, A. (2020). Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features. Turkish Journal of Medical Sciences, Cilt: 50 - Sayı: 4, 1048–1061. https://ajindex.com/articles/113198

References (2)

Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, ed. The Metabolic and Molecular Bases of Inherited Disease. New York, NY, USA: McGraw-Hill; 2001. pp. 3421-3452
Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011; 50 (Suppl 5): v4-12. doi: 10.1093/rheumatology/ker394 3. Coutinho MF, Lacerda L, Alves S. Glycosaminoglycan storage disorders: a review. Biochemistry Research International 2012; 2012. doi: 10.1155/2012/471325 4. Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology (Oxford) 2011; 50 (Suppl 5): v19-25. doi: 10.1093/rheumatology/ker397 5. Clarke LA. Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator. Rheumatology (Oxford) 2011; 50 (Suppl 5): v13-18. doi: 10.1093/rheumatology/ker395 6. Quiney FRE, Amirfeyz R, Smithson S, Gargan M, Monsell F. The mucopolysaccaridoses. Orthopaedics and Trauma 2012; 26 (1): 60-63. doi: 10.1016/j.mporth.2012.01.001 7. Palmucci S, Attinà G, Lanza ML, Belfiore G, Cappello G et al. Imaging findings of mucopolysaccharidoses: a pictorial review. Insights into Imaging 2013; 4 (4): 443-459. doi: 10.1007/ s13244-013-0246-8 8. Clarke LA, Hollak CE. The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. Best Practice & Research Clinical Endocrinology & Metabolism 2015; 29 (2): 219-235. doi: 10.1016/j. beem.2014.08.010 9. Rasalkar D, Chu W, Hui J, Chu C, Paunipagar B et al. Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine. The British Journal of Radiology 2011; 84 (1001): 469-477. doi: 10.1259/bjr/59197814 10. Coppa GV. Why should rheumatologists be aware of the mucopolysaccharidoses? Rheumatology (Oxford) 2011; 50 (Suppl 5): v1-3. doi: 10.1093/rheumatology/ker391 11. Summers CG, Ashworth JL. Ocular manifestations as key features for diagnosing mucopolysaccharidoses. Rheumatology (Oxford) 2011; 50 (Suppl 5): v34-40. doi: 10.1093/rheumatology/ker392 12. Giugliani R, Federhen A, Muñoz Rojas MV, Vieira T, Artigalás O et al. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genetics and Molecular Biology 2010; 33 (4): 589-604. doi: 10.1590/S1415-47572010005000093 13. Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. American Journal of Neuroradiology 2013; 34 (1): 5-13. doi: 10.3174/ajnr.A2832 14.