Tsochatzis Athanasios, Arkoudis Nikolaos-Achilleas, Pantoleon Varvara, Toulas Panagiotis, Filippiadis Dimitrios, Velonakis Georgios
Department of CT and MRI, Diagnostic and Therapeutic Centre 'Hygeia', Athens, Greece.
Research Unit of Radiology and Medical Imaging, Second Department of Radiology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Radiol Case Rep. 2025 Jul 19;20(10):5020-5025. doi: 10.1016/j.radcr.2025.06.085. eCollection 2025 Oct.
We present neuroimaging and skin findings of Urbach-Wiethe disease (lipoid proteinosis) in 2 adult patients. Lipoid proteinosis is a rare, autosomal recessive disease that primarily affects the skin, the upper respiratory tract, and the central nervous system (CNS). The first patient (a 37-year-old female) was referred due to the new onset of bilateral temporal lobe epilepsy. She had a family history and typical skin manifestations of the disease. She had been diagnosed with the disease in childhood. The second patient (a 42-year-old male) was referred for an MRI due to episodes of migraine and panic attacks without a previous diagnosis of the disease. Bilateral mesial temporal lobe calcifications, especially in the amygdalae, were found on MRI and CT in both patients. Patients may be referred for imaging due to a variety of neurological symptoms, even without prior knowledge of the disease; thus, radiologists should be aware of the imaging manifestations of lipoid proteinosis.
我们展示了2例成年患者的乌-维氏病（类脂蛋白沉积症）的神经影像学和皮肤表现。类脂蛋白沉积症是一种罕见的常染色体隐性疾病，主要影响皮肤、上呼吸道和中枢神经系统（CNS）。首例患者（一名37岁女性）因双侧颞叶癫痫新发而前来就诊。她有该疾病的家族史和典型的皮肤表现。她在童年时就被诊断出患有此病。第二例患者（一名42岁男性）因偏头痛和惊恐发作前来接受磁共振成像（MRI）检查，此前未被诊断出患有该疾病。在两名患者的MRI和计算机断层扫描（CT）上均发现双侧内侧颞叶钙化，尤其是在杏仁核。即使患者之前不了解该疾病，也可能因各种神经系统症状而接受影像学检查；因此，放射科医生应了解类脂蛋白沉积症的影像学表现。
