Mimaki T, Itoh N, Abe J, Tagawa T, Sato K, Yabuuchi H, Takebe H
Ann Neurol. 1986 Jul;20(1):70-5. doi: 10.1002/ana.410200112.
Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case, who were assessed for neurological complications. Of these patients, 17 had microcephaly, 13 short stature, and 21 mental retardation. In patients over 7 years of age, sensorineural deafness and spinocerebellar signs such as nystagmus, dysarthria, tremor, and ataxia were frequently observed; no patients below 7 years of age had such neurological complications. Electroencephalographic studies revealed abnormal slow and low voltage background activity. Two patients had focal abnormal discharges, one of whom developed versive seizures. Cranial computed tomographic scans revealed abnormalities, including ventricular dilatation, cerebral atrophy, cerebellar and brainstem atrophy, and cranial bone thickening. A patient with an atypical case of Group A xeroderma pigmentosum had less skin and neurological involvement, and higher levels of postultraviolet colony-forming ability and host cell reactivation than did a typical Group A case. It is possible that these less severe cytological findings are responsible for the less severe skin lesions and neurological complications noted clinically.
着色性干皮病是一种罕见的神经皮肤疾病。最近的研究通过体细胞杂交方法将着色性干皮病患者分为10组。在本报告中，我们描述了32例A组着色性干皮病患者，其中包括1例非典型病例，并对其神经并发症进行了评估。在这些患者中，17例有小头畸形，13例身材矮小，21例有智力障碍。在7岁以上的患者中，经常观察到感音神经性耳聋和脊髓小脑体征，如眼球震颤、构音障碍、震颤和共济失调；7岁以下的患者没有此类神经并发症。脑电图研究显示背景活动异常缓慢且电压低。2例患者有局灶性异常放电，其中1例出现旋转性癫痫发作。头颅计算机断层扫描显示有异常，包括脑室扩张、脑萎缩、小脑和脑干萎缩以及颅骨增厚。1例A组着色性干皮病非典型病例的皮肤和神经受累程度较轻，紫外线后集落形成能力和宿主细胞再激活水平高于典型A组病例。这些不太严重的细胞学发现可能是临床上观察到的较轻皮肤病变和神经并发症的原因。
