Neuropsychiatry Department, Ariana Medical Complex, Kabul, Afghanistan.
Department of cognitive neuroscience, Neuroscience Research Center, Kavosh Nonprofit Educational-Research Institute, Kabul, Afghanistan.
Medicine (Baltimore). 2024 Jun 21;103(25):e38542. doi: 10.1097/MD.0000000000038542.
Fahr syndrome is a rare, degenerative neurological condition characterized by bilateral idiopathic calcification of the periventricular region, especially the basal ganglia. This condition is often misdiagnosed as other neurological or psychiatric disorders due to its rarity and overlapping symptoms.
A 34-year-old man had been experiencing seizures and cognitive dysfunction for few years, which were further compounded by slurred speech and motor difficulties as acute conditions.
After investigations, severe hypocalcemia, and hypoparathyroidism were detected and his brain computed tomography showed extensive bilateral calcifications in basal ganglia, thalamus, dentate nuclei, and some parts of subcortical white matter, suggestive of Fahr syndrome. Although, the patient was initially misdiagnosed due to a lack of information and the rarity of this disease.
The patient was treated with intravenous calcium gluconate, vitamin D3, l-ornithine l-aspartate syrup, and levetiracetam, replacing carbamazepine.
His symptoms, including slurred speech, muscle pain, and stiffness improved, serum calcium normalized, and he was discharged with medications for memory deficit and depression.
This case underscores the importance of raising awareness among physicians, especially in areas with limited medical resources, about the significance of prompt diagnosis and appropriate symptomatic treatment in enhancing patient prognosis and quality of life.
Fahr 综合征是一种罕见的退行性神经疾病,其特征为双侧特发性侧脑室周围区域钙化,特别是基底节。由于其罕见性和重叠症状,该病症常被误诊为其他神经或精神障碍。
一名 34 岁男性,几年来一直患有癫痫和认知功能障碍,近期因言语含糊和运动困难急性发作。
经过检查,发现患者严重低钙血症和甲状旁腺功能减退症,头颅 CT 显示双侧基底节、丘脑、齿状核和部分皮质下白质广泛钙化,提示 Fahr 综合征。尽管如此,由于缺乏信息和该疾病的罕见性,患者最初被误诊。
患者接受了静脉注射葡萄糖酸钙、维生素 D3、L-鸟氨酸 L-天冬氨酸糖浆和左乙拉西坦治疗,停用了卡马西平。
他的症状,包括言语含糊、肌肉疼痛和僵硬改善,血清钙正常,出院时开了治疗记忆缺陷和抑郁的药物。
该病例强调了提高医生,特别是在医疗资源有限地区的医生的意识的重要性,即及时诊断和适当的对症治疗对改善患者预后和生活质量的重要性。