Objective To investigate the clinical and molecular genetic features of idiopathic basal ganglia calcification ( IBGC) with acute cerebral infarction. Methods Clinical data of 1 patient with IBGC and his family were analyzed retrospectively. Results There were 9 patients in 3 generations family. The proband presented paralysis of left limbs, craniocerebral CT showed bilateral basal ganglia calcification and craniocerebral MRI discovered acute infarction of the right basal ganglia besides bilateral basal ganglia calcification. Until now, no obvious clinical symptom was found in the other patients except facial pigmentation. Bilateral basal ganglia calcification was found in all the patients. Karyotype analysis and electroencephalogram were normal. No mutation of SLC20A2 was found in the proband. Conclusions Besides typical the characters of craniocerebral imaging, IBGC can be accompanied with acute infarction and skin pigmentation. This family was not caused by SLC20A2 gene, which suggested genetic heterogeneity of IBGC.%目的 探讨伴有急性脑梗死的特发性基底节钙化(IBGC)的临床和分子遗传学特点.方法 对1例伴有急性脑梗死的IBGC及其家系的临床资料进行回顾性分析.结果 该家系共3代,患者9例.先证者主要表现为左侧肢体瘫痪,头颅CT提示双侧基底节钙化,头颅MRI提示右侧基底节急性脑梗死.目前为止,其余患者除面部色素沉着外无明显临床症状.所有患者均存在双侧基底节钙化.所有患者染色体核型分析及EEG正常.SLC20A2基因分析未发现致病性突变.结论 IBGC除了具有典型的头颅影像学特点,可伴有皮肤色素沉着、脑梗死.常见IBGC的致病基因SLC20A2基因可能不是该家系的致病基因.
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