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 wellknown 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 Hu… Show more
“…Other cranial deformities were also noticed. Having analysed a complex group of MPS patients, they concluded that cranial pathologies might help in differentiating MPS types [ 33 ]. Similarly to Damar, IHOMS of varying expression degree were detected in all five of our children.…”
Section: Discussionmentioning
confidence: 99%
“…Enlarged PVS are isointense to cerebrospinal fluid (CSF) and were reported within the white matter (WM), corpus callosum (CC), basal ganglia and brainstem. Among these, the involvement of CC appears to be the most distinctive upon comparison of MPS 1 patients and healthy controls [ 33 ]. A reduced CC volume had been reported among Hurler syndrome patients, standing out from attenuated phenotypes, and even more markedly from the healthy control group [ 34 ].…”
Mucopolysaccharidosis 1 (MPS 1) is a group of rare lysosomal genetic disorders resulting from the accumulation of undegraded glycosaminoglycans (GAGs) leading to multiorgan damage. Neurological symptoms vary from mild to severe. Neuroimaging—mainly magnetic resonance (MRI)—plays a crucial role in disease diagnosis and monitoring. Early diagnosis is of the utmost importance due to the necessity of an early therapy implementation. New imaging tools like MR spectroscopy (MRS), semiquantitative MRI analysis and applying scoring systems help substantially in MPS 1 surveillance. The presented analysis of neuroimaging manifestations is based on 5 children with MPS 1 and a literature review. The vigilance of the radiologist based on knowledge of neuroradiological patterns is highlighted.
“…Other cranial deformities were also noticed. Having analysed a complex group of MPS patients, they concluded that cranial pathologies might help in differentiating MPS types [ 33 ]. Similarly to Damar, IHOMS of varying expression degree were detected in all five of our children.…”
Section: Discussionmentioning
confidence: 99%
“…Enlarged PVS are isointense to cerebrospinal fluid (CSF) and were reported within the white matter (WM), corpus callosum (CC), basal ganglia and brainstem. Among these, the involvement of CC appears to be the most distinctive upon comparison of MPS 1 patients and healthy controls [ 33 ]. A reduced CC volume had been reported among Hurler syndrome patients, standing out from attenuated phenotypes, and even more markedly from the healthy control group [ 34 ].…”
Mucopolysaccharidosis 1 (MPS 1) is a group of rare lysosomal genetic disorders resulting from the accumulation of undegraded glycosaminoglycans (GAGs) leading to multiorgan damage. Neurological symptoms vary from mild to severe. Neuroimaging—mainly magnetic resonance (MRI)—plays a crucial role in disease diagnosis and monitoring. Early diagnosis is of the utmost importance due to the necessity of an early therapy implementation. New imaging tools like MR spectroscopy (MRS), semiquantitative MRI analysis and applying scoring systems help substantially in MPS 1 surveillance. The presented analysis of neuroimaging manifestations is based on 5 children with MPS 1 and a literature review. The vigilance of the radiologist based on knowledge of neuroradiological patterns is highlighted.
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