An adult case of leukoencephalopathy with intracranial calcifications and cysts
An adult case of leukoencephalopathy with intracranial calcifications and cysts
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DOI：
10.1212/01.wnl.0000244470.06748.18
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发表时间：
2006-11-28
期刊：
影响因子：
9.9
通讯作者：
Kleinschmidt-DeMasters, B. K.
中科院分区：
文献类型：
--
作者：
Corboy, John R.;Gault, Judith;Kleinschmidt-DeMasters, B. K.
白质脑病通常是体积损失的过程，尽管一些变异，如Alexander病和Canavan病，可能导致巨脑畸形。产生严重水肿的白质脑病是大量产生的，而模拟肿瘤是罕见的。1996年，3名无关系的儿童在婴儿期早期至青春期发病，表现为认知能力减慢、癫痫发作、锥体外系、小脑和锥体体征。(1)神经影像学研究显示了一个惊人的三联征：基底神经节、小脑核和深部白质进行性钙化；MRI白质弥漫性异常信号；以及巨大的，占据空间的脑实质囊肿产生肿块效应。1 .对一名患者手术切除的材料进行神经病理学检查，发现“微血管出现血管瘤样重排……”，“提示存在结构性弥漫性脑微血管病变……”(1)假性血管瘤血管周围可见大量罗森塔尔纤维。该疾病不符合任何先前已知的肉瘤病或发育不良综合征的描述。人们给这种新综合征起了一个描述性的名字，最初认为是一种脑白质营养不良。随后又报道了三名患者，他们都是在9至14岁的儿童时期发病的。(2)更广泛的神经影像学研究表明，白质异常是由于“含水量增加而不是脱髓鞘过程”，与白质脑病一致，而不是白质营养不良。我们现在提出一个成年患者的临床和病理发现几乎相同的这六个以前报道的儿童。由于这种疾病似乎与成人发病的亚历山大病有些相似，并且与明显的微血管病变有关，我们还研究了胶质纤维酸性蛋白（GFAP）和脑海绵状畸形（CCM）基因的多态性。
Leukoencephalopathies are generally volume-losing processes, although several variants, such as Alexander disease and Canavan disease, may cause megalencephaly. Leukoencephalopathies that generate severe edema, are mass producing, and mimic neoplasms are rare.In 1996, a new cerebral disorder was described in three unrelated children who had onset in early infancy to adolescence of slowed cognitive performance, seizures, and extrapyramidal, cerebellar, and pyramidal signs.(1) Neuroimaging studies demonstrated a striking triad of findings: progressive calcifications in the basal ganglia, cerebellar nuclei, and deep white matter; diffuse abnormal signal on MRI in the white matter; and large, space-occupying parenchymal brain cysts generating mass effect. 1 Neuropathologic examination of surgically resected material from one patient revealed "angiomatous-like rearrangements of the microvessels..." that "suggest a constitutional, diffuse cerebral microangiopathy..."(1) Profuse numbers of Rosenthal fibers were identified around the "pseudoangiomatous" blood vessels. The disease did not fit descriptions for any previously known phakomatosis or dysgenetic syndrome. A descriptive name was given to this new syndrome, which was initially thought to be a leukodystrophy.Three more patients were subsequently reported, all of whom also had onset in childhood between the ages 9 and 14 years.(2) More extensive neuroimaging studies suggested that the white matter abnormalities were due to "increased water content rather than a demyelinating process," consistent with a leukoencephalopathy, rather than a leukodystrophy. We now present an adult patient with clinical and pathologic findings nearly identical to these six previously reported children. Because this disorder seemed somewhat similar to adult-onset Alexander disease and was associated with apparent microangiopathy, we also searched for polymorphisms in glial fibrillary acidic protein (GFAP) and cerebral cavernous malformation (CCM) genes.