Department of Radiology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey
Department of Pediatric Radiology, Dr. Sami Ulus Maternity and Children’s Research and Education Hospital, Ankara, Turkey
Turk J Med Sci. 2020 Jun 23;50(4):1048-1061. doi: 10.3906/sag-1908-70.
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.
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.
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%).
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.
背景/目的：黏多糖贮积症（MPS）是一组遗传性代谢疾病。本研究的目的是分享一组此前未报道的颅骨缝内部肥大（IHOMS）的发现，并结合该患者系列中的一些其他众所周知的颅 MRI 发现。
回顾性评估了 2008 年至 2019 年在我们中心诊断和随访的 MPS 患者的 80 例颅 MRI。这些患者中，11 例为 Hurler 型，14 例为 Hunter 型，24 例为 Sanfilippo 型，15 例为 Morquio 型，14 例为 Maroteaux–Lamy 型，2 例为 Sly 病。颅 MRI 主要分为两组进行评估，即脑实质颅内 MRI 表现和硬膜外颅骨表现。
最常见的脑实质颅内 MRI 表现是白质信号改变（n = 51，63%）和血管周围间隙扩大（n = 39，48%）。最常见的硬膜外颅骨表现是 J 形蝶鞍（n = 45，56%）和鼓膜积气（n = 44，55%）。尽管 IHOMS 在相对较少的患者中被定义（n = 12，15%），但在 MPS 型 I 中患病率较高（n = 6，54%）。
MPS 患者的异常颅 MRI 表现，包括新发现的 IHOMS，可能为疾病的影像学诊断提供线索。
