Flint J, Goldstein L H
Neuropsychiatry Unit, Maudsley Hospital, London.
Psychol Med. 1992 Aug;22(3):581-95. doi: 10.1017/s0033291700038046.
Although calcification of the basal ganglia is a relatively common and asymptomatic finding on cranial computed tomography, familial idiopathic calcification of the basal ganglia (ICBG) is a rare disorder with neurological and behavioral manifestations. Attention has recently been drawn to the frequency with which cases are diagnosed as schizophrenic (Cummings et al. 1983; Lowenthal, 1986; Davison, 1987). We report a family in which a mother and son have ICBG, but while the son has a paranoid schizophrenia and intellectual deterioration, the mother shows no psychiatric illness. A review of the relevant literature suggests that psychosis is not as common as usually supposed, and may only be coincidentally associated with familial ICBG. Moreover, we find little convincing evidence that familial ICBG is an independent entity; instead, and in agreement with earlier authorities (Bruyn et al. 1964), we argue that published accounts and our own cases provide evidence that the condition is related to pseudo-hypoparathyroidism (PHP) and, therefore, may be due to a defect in a guanine nucleotide binding protein.
尽管基底节钙化在头颅计算机断层扫描中是相对常见且无症状的表现，但家族性特发性基底节钙化（ICBG）是一种罕见的疾病，具有神经和行为表现。最近，人们开始关注将病例诊断为精神分裂症的频率（卡明斯等人，1983年；洛温塔尔，1986年；戴维森，1987年）。我们报告了一个家庭，其中母亲和儿子患有ICBG，但儿子患有偏执型精神分裂症并伴有智力衰退，而母亲没有精神疾病。对相关文献的回顾表明，精神病并不像通常认为的那么常见，可能只是与家族性ICBG偶然相关。此外，我们几乎没有找到令人信服的证据表明家族性ICBG是一个独立的实体；相反，与早期权威观点一致（布鲁因等人，1964年），我们认为已发表的病例报道和我们自己的病例提供了证据，表明该疾病与假性甲状旁腺功能减退症（PHP）有关，因此可能是由于鸟嘌呤核苷酸结合蛋白的缺陷所致。
