Smith Paul, Ng Kalun, Krishnan Kailash
Nottingham University Hospitals NHS Trust, Nottingham, UK
Nottingham University Hospitals NHS Trust, Nottingham, UK.
BMJ Case Rep. 2021 Jun 29;14(6):e242837. doi: 10.1136/bcr-2021-242837.
A 51-year-old man presented with vertigo, slurred speech and left facial droop. He had been previously diagnosed with transient ischaemic attack (TIA) and had a prior lacunar infarct. Imaging showed heavy symmetrical calcification in the globus pallidus, frontal white matter and cerebellar dentate nuclei/deep white matter. The imaging was pathognomonic for Fahr's disease and diagnosis was confirmed when other secondary causes of hypercalcemia were excluded. Fahr's disease is a rare, autosomal dominant, neurological condition characterised by primary brain calcification. Patients present with progressive neurological and psychiatric symptoms; commonly, Parkinsonian movement disorders, seizures, headaches, dysarthria, cognitive decline, psychosis and personality changes. There is an association with intracerebral ischaemic events. This case supports a growing body of anecdotal evidence of this association and is the first in which crescendo TIA may be the initial presentation of Fahr's disease. Referral for genetic counselling and symptomatic relief for neurological symptoms are the main management strategies.
一名51岁男性出现眩晕、言语不清和左侧面部下垂。他之前被诊断为短暂性脑缺血发作（TIA），并有过腔隙性梗死。影像学检查显示苍白球、额叶白质和小脑齿状核/深部白质有重度对称性钙化。该影像学表现为 Fahr 病的特征性表现，在排除其他高钙血症的继发原因后确诊。Fahr 病是一种罕见的常染色体显性神经疾病，其特征为原发性脑钙化。患者会出现进行性神经和精神症状；常见的有帕金森氏运动障碍、癫痫发作、头痛、构音障碍、认知衰退、精神病和人格改变。它与脑缺血事件有关。该病例支持了越来越多关于这种关联的轶事证据，并且是第一例以渐强性TIA作为 Fahr 病首发表现的病例。遗传咨询转诊和神经症状的对症缓解是主要的治疗策略。
