51. Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features
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Betül Emine Derinkuyu, Mehmet Öztürk, Murat Ucar, Fatih Süheyl Ezgü, Cigdem Oztunali, Ahmet Sigirci, Muazzez Asburçe Bike Olgaç Kiliçkaya, Leyla Tümer, Cagri Damar, Alp Özgün Börcek, Oznur Boyunaga, and Ayse Gul Alimli
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Male ,medicine.medical_specialty ,Adolescent ,Posterior fossa ,030204 cardiovascular system & hematology ,Article ,Muscle hypertrophy ,White matter ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Lysosomal storage diseases ,Sly disease ,Humans ,Medicine ,Perivascular space ,Child ,Radiological imaging ,Retrospective Studies ,0303 health sciences ,030306 microbiology ,business.industry ,Infant ,mucopolysaccharidosis ,Cranial Sutures ,Hypertrophy ,General Medicine ,Mucopolysaccharidoses ,Magnetic Resonance Imaging ,Lysosomal storage diseases,glycosaminoglycans,mucopolysaccharidosis,magnetic resonance imaging,internal hypertrophy of the occipitomastoid sutures ,medicine.anatomical_structure ,glycosaminoglycans ,Effusion ,Child, Preschool ,Female ,Radiology ,business ,internal hypertrophy of the occipitomastoid sutures ,Mri findings - 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.