伴钙化及囊变的脑白质病一例报道并文献复习

 目的 提高对罕见的神经系统疾病伴钙化及囊变的脑白质病的认识。方法 分析1例19岁男性患者的临床、影像及病理表现并回顾文献。结果 患者主要临床表现为肢体力弱、智能减退、头痛、视物模糊。头颅影像显示脑内广泛钙化、囊变及白质病变，白质病变区磁共振波谱未见显著异常，磁敏感加权成像(SWI)显示病变区有钙化和微岀血。脑活检病理可见囊壁小血管玻璃样变性及血管瘤样改变，伴钙化和血栓形成，脑组织胶质增生，散在多量Rosenthal纤维。结论 伴钙化及囊变的脑白质病临床表现多样，影像学钙化、囊变和脑白质病变三联征是诊断基础，小血管病变与其病理过程有密切关系，需重视SWI的应用。

Leukoencephalopathy with cerebral calcification and cysts: a case report and review of literature

Objective To improve the diagnostic ability of leukoencephalopathy with cerebral calcifications and cysts (LCC), a rare central nervous system disease.Methods The clinical manifestations, neuroimages and neuropathological features of a 19-year-old male patient were analyzed. A total of 20 cases from 14 literatures were reviewed.Results The patient was admitted with right limb weakness, cognitive decline，headache and blurred eyesight. Head CT scan showed multiple calcifications, cysts formation and leukoencephalopathy. Brain MRI showed several cysts in bilateral hemisphere, basal ganglia, thalamus and paraventricular areas. A mural nodule was noted inside one of the cyst, which was enhanced on the contrasted MRI. The wall of the cysts was partially enhanced, but not with the fluid inside the cysts. The corresponding CT calcifications foci showed on T1 and T2 with either both hyperintensity or both hypointensity, which was also partial enhanced. Extensive leukoencephalopathy was formed around the cysts and the ventricles. But neither Cho nor NAA changed a lot on MRS. Amplitude diagram of SWI series exhibited multiple round small dark signals all over the affected areas with mixed signals showed in the phase diagram, which indicated both calcifications and microbleedings at the lesions. Neuropathological examinations found no tumor cells in the operated cyst, and showed angiomatous small blood cells were dominant in the cyst wall. Hyaline degenerations, microcalcifications and hemosiderin deposition were observed. No obvious demyelination was discovered, while gliosis, numerous Rosenthal fibers and fibrinoid vascular necrosis were found around the lesions. The clinical, neuroimaging and pathological features of this patient were in accordance with the cases reported in the literatures.Conclusions Neuroimaging is the most important method for the diagnosis of LCC. As small vessel lesions are probably closely related to the pathophysiology of LCC, SWI could be recommended to further reveal the etiology of LCC.