Crome L, Kanjilal G C
J Neurol Neurosurg Psychiatry. 1971 Apr;34(2):171-8. doi: 10.1136/jnnp.34.2.171.
The clinical features in a new non-familial case of Cockayne's syndrome comprised the usual components: dwarfism with microcephaly, severe mental subnormality, progeria-like appearance of the face, pigmented retinopathy, and severe perceptive deafness. The patient also suffered from grand mal epilepsy and died in status epilepticus at the age of 22 years. The neuropathological findings were severe microencephaly, widespread calcifying vasopathy with some secondary degenerative changes in the contiguous tissue, and granular ependymitis.
侏儒症伴小头畸形、严重智力低下、面部早衰样外观、色素性视网膜病变和严重的感音神经性耳聋。该患者还患有大发作癫痫,并在22岁时死于癫痫持续状态。神经病理学检查结果为严重小头畸形、广泛的钙化性血管病,相邻组织有一些继发性退行性改变,以及颗粒性室管膜炎。