Zhang Xiaoyu, Ma Gaoting, Zhao Zhangning, Zhu Meijia
Department of Neurology, Qianfoshan Hospital, Shandong University, Jinan, 250014, China.
BMC Neurol. 2018 Jan 19;18(1):11. doi: 10.1186/s12883-018-1012-9.
Primary familial brain calcification (PFBC) is a rare disorder characterized by distinctive bilateral brain calcification and variable clinical presentations. However, cerebrovascular attack was rarely reported in PFBC patients. We here reported a SLC20A2 mutation patient presenting with acute ischemic stroke.
A 56 years old man was transferred to our hospital because of 6 days of melena and 3 days of somnolence, agitation and mood changes. Computed tomography (CT) scan showed symmetrical calcifications in bilateral basal ganglia, caudate nucleus, thalami, subcortical white matter and cerebellum, which is consistent with PFBC. Brain magnetic resonance imaging (MRI) revealed acute ischemic stroke in bilateral basal ganglia and periventricular regions. Mutational analysis identified a SLC20A2 gene mutation c.344C > T (p.Thr115Met) in exon 3. One of his daughters had also suffered from brain calcification. MR perfusion imaging revealed hypoperfusion in bilateral basal ganglia, prefrontal and temporal lobe. After treatment, he discharged with a favorable functional outcome but cognitive impairment.
Ischemic stroke can occur in PFBC patients, which may be associated with hypoperfusion and calcification of arteries. And hypoperfusion in frontotemporal lobar may be related with their cognitive impairment.
原发性家族性脑钙化（PFBC）是一种罕见疾病，其特征为双侧脑内有独特的钙化以及多样的临床表现。然而，PFBC患者中很少有脑血管意外的报道。我们在此报告一例携带SLC20A2突变且表现为急性缺血性卒中的患者。
一名56岁男性因6天的黑便以及3天的嗜睡、烦躁和情绪改变被转诊至我院。计算机断层扫描（CT）显示双侧基底节、尾状核、丘脑、皮质下白质和小脑有对称性钙化，这与PFBC相符。脑磁共振成像（MRI）显示双侧基底节和脑室周围区域有急性缺血性卒中。突变分析在外显子3中鉴定出SLC20A2基因突变c.344C＞T（p.Thr115Met）。他的一个女儿也患有脑钙化。磁共振灌注成像显示双侧基底节、前额叶和颞叶灌注不足。治疗后，他出院时功能恢复良好，但仍有认知障碍。
PFBC患者可发生缺血性卒中，这可能与动脉灌注不足和钙化有关。额颞叶灌注不足可能与其认知障碍有关。
