背景:Fahr综合征是一种罕见的,以脑室周围区域双侧特发性钙化为特征的退行性神经系统疾病,尤其是基底神经节.这种情况经常被误诊为其他神经或精神疾病,由于其罕见和重叠的症状。
方法:一名34岁的男子已经经历了几年的癫痫发作和认知功能障碍,语言不清和运动困难作为急性条件进一步加剧了这种情况。
方法:经过调查,严重的低钙血症,和甲状旁腺功能减退被检测到,他的脑计算机断层扫描显示基底神经节广泛的双侧钙化,丘脑,齿状核,皮质下白质的某些部分,提示Fahr综合征。虽然,由于缺乏信息和这种疾病的罕见性,患者最初被误诊。
方法:患者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,替代卡马西平.
结果:他的症状,包括含糊不清的演讲,肌肉疼痛,刚度提高,血清钙正常化,他因记忆力减退和抑郁症而出院。
结论:此案例强调了提高医生意识的重要性,特别是在医疗资源有限的地区,关于及时诊断和适当对症治疗对提高患者预后和生活质量的意义。
BACKGROUND: 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.
METHODS: 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.
METHODS: 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.
METHODS: The patient was treated with intravenous calcium gluconate, vitamin D3, l-ornithine l-aspartate syrup, and levetiracetam, replacing carbamazepine.
RESULTS: His symptoms, including slurred speech, muscle pain, and stiffness improved, serum calcium normalized, and he was discharged with medications for memory deficit and depression.
CONCLUSIONS: 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.