Cramer H, Niederdellmann H
Arch Psychiatr Nervenkr (1970). 1983;233(2):111-24. doi: 10.1007/BF00343432.
We report 9 subjects from 2 families with the syndrome of cerebral gigantism, seven of the patients also had jaw cyst basal cell naevoid syndrome. Neurological, radiological, somatic and biochemical features of this hitherto unreported association are described. Neurological symptoms included mild hydrocephalus, ventricular malformation, cerebellar syndrome, intracranial calcification, oculomotor disturbances, EEG abnormalities and rarely, mild peripheral nervous disorders. A disturbance of calcium metabolism appears to be a prominent feature of the genetically determined nonprogressive syndrome.
我们报告了来自2个家庭的9名患有脑性巨人症综合征的患者，其中7名患者还患有颌骨囊肿基底细胞痣样综合征。本文描述了这种此前未报告的综合征的神经学、放射学、躯体和生化特征。神经学症状包括轻度脑积水、脑室畸形、小脑综合征、颅内钙化、动眼神经功能障碍、脑电图异常，少数情况下还伴有轻度周围神经疾病。钙代谢紊乱似乎是这种遗传性非进行性综合征的一个突出特征。
