Patil Chandrashekar, Kadam Bhagwat, Dawale Sachin D, Shelke Saiprasad P, Ramitha L
Radiology, Malla Reddy Medical College for Women, Hyderabad, IND.
Radiodiagnosis, Malla Reddy Medical College for Women, Hyderabad, IND.
Cureus. 2024 Nov 18;16(11):e73904. doi: 10.7759/cureus.73904. eCollection 2024 Nov.
Lipoid proteinosis is a rare genetic disorder affecting the skin, mucous membranes, and central nervous system. Here, we present the case of a 35-year-old female who presented with two episodes of seizures followed by loss of consciousness and injury to the nose. A CT scan and MRI of the brain revealed small symmetrical calcifications in the bilateral medial temporal lobes, a finding highly suggestive of lipoid proteinosis. This case highlights the neurological manifestations of lipoid proteinosis, an extremely rare autosomal recessive disorder, and emphasizes the importance of neuroimaging in its diagnosis.
类脂蛋白沉积症是一种罕见的遗传性疾病,会影响皮肤、黏膜和中枢神经系统。在此,我们报告一例35岁女性病例,该患者出现两次癫痫发作,随后意识丧失并导致鼻部受伤。脑部CT扫描和MRI显示双侧内侧颞叶有小的对称性钙化,这一发现高度提示类脂蛋白沉积症。该病例突出了类脂蛋白沉积症这种极其罕见的常染色体隐性疾病的神经学表现,并强调了神经影像学在其诊断中的重要性。