SPASTIC PARAPLEGIA ASSOCIATED WITH ADDISONS-DISEASE - ADULT VARIANT OF ADRENO-LEUKODYSTROPHY
SPASTIC PARAPLEGIA ASSOCIATED WITH ADDISONS-DISEASE - ADULT VARIANT OF ADRENO-LEUKODYSTROPHY
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DOI：
10.1007/bf00312873
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发表时间：
1976-01-01
影响因子：
6
通讯作者：
HEISS, WD
中科院分区：
文献类型：
--
作者：
BUDKA, H;SLUGA, E;HEISS, WD
提出了临床和病理特征。一名患有艾迪生氏病 (AD) 临床和实验室症状的男性在 22 岁时出现缓慢进展的截瘫，双腿和膀胱有轻微感觉缺陷，并且括约肌功能障碍； 24 岁时，他在 AD 危机中去世。尸检显示淋巴组织增生，包括中枢神经系统在内的各个器官有淋巴细胞浸润，肾上腺皮质萎缩，并伴有突出的大气球状、有时奇怪的、偶尔有横纹的皮质细胞。中枢神经系统病变包括脑干和脊髓长束的不完全脱髓鞘，并在锥体束中加重：在这些区域，上皮样组织细胞的血管周围套囊含有强高碘酸席夫阳性非苏丹细胞物质。电镜显示，血管周围组织细胞中大量储存小叶结构，与之前描述的 ALD（肾上腺脑白质营养不良）特有的层状结构相同。一些小叶被发现与星形胶质细胞内的致密层状阵列和电子致密指纹材料紧密接触。在这种情况下，先前在一些临床观察中描述的痉挛性截瘫-AD 综合征可以在神经病理学上归类为 ALD 的成人变体。强调了年轻男孩中发生的经典 ALD 的几个差异：内分泌紊乱的主导地位可能是中枢神经系统内一些血管周围淋巴细胞浸润的原因；没有弥漫性脑受累的临床和病理体征，中枢神经系统病变的特殊局部模式，以及神经系统体征的非常缓慢的演变，同时没有活动性嗜苏丹性脱髓鞘病变。讨论了脱髓鞘的可能机制以及 ALD 中代谢缺陷的性质。超微结构突出的小叶结构可能源自髓磷脂残留物，因此将 ALD 与髓磷脂降解产物的病理储存联系起来。
Clinical and pathological features are presented. A male with clinical and laboratory signs of Addison''s disease (AD) developed at age 22 a slowly progressing paraplegia with slight sensory deficits in both legs and bladder and sphincter dysfunctions; he died at age 24 in an AD crisis. Autopsy revealed hyperplasia of lymphatic tissues, lymphocytic infiltrates in various organs including the CNS and adrenocortical atrophy with prominence of large ballooned, sometimes bizarre and occasionally striated cortical cells. CNS lesions consisted in incomplete demyelination of long tracts of brain stem and spinal cord with accentuation in the pyramical tracts: in these areas, perivascular cuffs of epitheloid histiocytic cells contained a strongly periodic acid Schiff positive non-sudanophilic material. EM demonstrated massive storage of leaflet structures in perivascular histiocytes identical to the lamellar profiles previously described as specific for ALD [adrenal leukodystrophy]. Some leaflets were found in close contact with compact lamellar arrays and with an electron-dense fingerprint material within astrocytes. In this case, the spastic paraplegia-AD syndrome which was described previously in several clinical observations could be neuropathologically classified as an adult variant of ALD. Several differences of classical ALD occurring in young boys are stressed: the predominance of the endocrine disorder probably accounting for some of the perivascular lymphocytic infiltrates within the CNS; the absence of both clinical and pathological signs of diffuse cerebral involvement and the peculiar topistic pattern of CNS lesions and the very slow evolution of neurological signs paralleled by the absence of active sudanophilic demyelinating lesions. The possible mechanism of demyelination and the nature of the suggested metabolic defect in ALD are discussed. The ultrastructurally prominent leaflet structures may originate from myelin remnants, thus relating ALD to pathological storage of a myelin degradation product.