Department of Neurosurgery, the Affiliated Hospital of Southwest Medical University, Luzhou, 646000, China.
Laboratory of Neurological Diseases and Brain Function, the Affiliated Hospital of Southwest Medical University, Luzhou, 646000, China.
BMC Neurol. 2023 Jan 23;23(1):33. doi: 10.1186/s12883-023-03072-2.
Primary familial brain calcification (PFBC), habitually called Fahr's disease, is characterized by bilateral calcification of the basal ganglia, accompanied by extensive calcification of the cerebellar dentate nucleus, brainstem cerebrum, and cerebellum at the grey-white matter junction. However, there are few reports about PFBC with aneurysmal subarachnoid hemorrhage (aSAH) and thalassemia.
We describe a patient admitted to the hospital with an acute deterioration in the level of consciousness with no history of neuropsychiatric features or movement disorders. After computed tomography (CT) and CT angiography (CTA), the patient was diagnosed with PFBC, accompanied by aneurysmal subarachnoid haemorrhage (aSAH), intracranial haemorrhage (ICH), and hemoglobin electrophoresis suggested beta-thalassemia. This patient underwent craniotomy aneurysm clipping and intracranial hematoma removal.
For patients with PFBC, we should pay attention to their blood pressure and intracranial vascular conditions. The CTA is necessary to clarify the cerebrovascular conditions of the patient, especially when combined with hypertension and persistent headache or other related prodromal symptoms of cerebrovascular disease.
原发性家族性脑钙化（PFBC），通常称为 Fahr 病，其特征是基底节双侧钙化，伴有小脑齿状核、脑干和灰白质交界处的大脑广泛钙化。然而，PFBC 合并颅内动脉瘤性蛛网膜下腔出血（aSAH）和地中海贫血的报道较少。
我们描述了一位因意识水平急性恶化而入院的患者，该患者无神经精神特征或运动障碍病史。经计算机断层扫描（CT）和 CT 血管造影（CTA）检查后，该患者被诊断为 PFBC，合并颅内动脉瘤性蛛网膜下腔出血（aSAH）、颅内出血（ICH）和血红蛋白电泳提示β地中海贫血。该患者接受了开颅动脉瘤夹闭术和颅内血肿清除术。
对于 PFBC 患者，我们应注意其血压和颅内血管状况。CTA 是明确患者脑血管状况的必要手段，尤其是当合并高血压和持续性头痛或其他相关脑血管病前驱症状时。
