Szpak G M, Lewandowska E, Schmidt-Sidor B, Popow J, Kozłowski P, Lechowicz W, Kulczycki J, Zaremba J, Dymecki J
Department of Neuropathology, Institute of Psychiatry and Neurology, Warszawa.
Folia Neuropathol. 1996;34(4):184-92.
A 35-year-old man died after 30 months following the onset of the disease. There was a history of changes in his mental condition, including disturbances of behavior as well as the evidence of progressing dementia. The patient revealed gait disturbances and finally became bed ridden. Bizarre behavior and changes of mood with concurrent growing irritability which predominated during the course of disease, may explain the initial diagnosis of schizophrenia. Then cerebellar and spastic movement disorders leading to paraparesis and sphincters disturbances developed. Clinical symptoms of adrenal failure were not found apart from episodes of arterial pressure fall. After two years a magnetic resonance imaging (MRI) revealed an extensive diffuse demyelinative process in white matter of cerebral and cerebellar hemispheres. Activity of lysosomal enzymes was normal. A general autopsy revealed atrophy of adrenal cortex and the presence of ballooned cells with striated cytoplasm in the reticular and fasciculate zones. Neuropathological examination revealed an extensive demyelination of white matter in cerebral and cerebellar hemispheres and of the long paths of the brain stem, corresponding to changes in MRI examination. Within demyelination areas damage of axons and diffuse cellular and fibrous gliosis were found as well as perivascular lymphocytic infiltrations with the presence of strong PAS (+) and Sudan (+) macrophages. Immunocytochemical reactions with HAM-56 and RCA1 in macrophages were positive. Electron microscopy examination revealed lamellar inclusions in cytoplasm of macrophages. Similar structures were present in the lysosomes of astrocytes. Morphological examination of adrenal glands as well as morphological and ultrastructural study of the brain allowed us to diagnose the cerebral form of adrenoleukodystrophy (ALD). Topography and character of the brain changes seems to be in keeping with a rare schizophrenic-like variant of ALD with progressive dementia. Abnormal plasma profile and increased VLCFA concentration in the patient's 13-year-old daughter confirm the ALD diagnosis.
一名35岁男性在疾病发作30个月后死亡。他有精神状态改变的病史，包括行为紊乱以及进行性痴呆的证据。患者出现步态障碍，最终卧床不起。怪异行为和情绪变化，同时伴有疾病过程中占主导地位的易怒情绪，可能解释了最初的精神分裂症诊断。随后出现小脑和痉挛性运动障碍，导致双下肢轻瘫和括约肌功能障碍。除了动脉压下降发作外，未发现肾上腺功能衰竭的临床症状。两年后，磁共振成像（MRI）显示大脑和小脑半球白质广泛弥漫性脱髓鞘过程。溶酶体酶活性正常。全身尸检显示肾上腺皮质萎缩，在网状带和束状带存在细胞质有条纹的气球样细胞。神经病理学检查显示大脑和小脑半球白质以及脑干长径广泛脱髓鞘，与MRI检查结果相符。在脱髓鞘区域发现轴突损伤、弥漫性细胞和纤维性胶质增生，以及血管周围淋巴细胞浸润，伴有强PAS（+）和苏丹（+）巨噬细胞。巨噬细胞与HAM - 56和RCA1的免疫细胞化学反应呈阳性。电子显微镜检查显示巨噬细胞胞质内有层状包涵体。星形胶质细胞的溶酶体中也有类似结构。肾上腺的形态学检查以及大脑的形态学和超微结构研究使我们能够诊断为脑型肾上腺脑白质营养不良（ALD）。大脑病变的部位和特征似乎与罕见的具有进行性痴呆的精神分裂症样ALD变体相符。患者13岁女儿异常的血浆谱和极长链脂肪酸（VLCFA）浓度升高证实了ALD的诊断。
