Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)
Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)
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DOI：
10.1007/s00415-014-7509-2
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发表时间：
2014-12-01
影响因子：
6
通讯作者：
Karle, Kathrin N.
中科院分区：
文献类型：
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作者：
Bender, Benjamin;Klose, Uwe;Karle, Kathrin N.
伴有轴突球样变的遗传性弥漫性白质脑病（HDLS）是一种由集落刺激因子1受体（CSF1R）基因突变引起的罕见常染色体显性疾病。虽然有少量关于常规磁共振成像（MRI）影像学表现的报道，但弥散加权成像（DWI）和波谱分析的报道很少，且仅限于未经基因验证的病例报告。我们对6例HDLS患者和2例无症状突变携带者进行了包括DWI和磁共振波谱分析在内的MRI评估。共评估了13次MRI，并计算了白质病变（WML）负荷评分。对4例患者的MRI异常情况进行了6 - 19个月的随访，对1例携带者随访了95个月。MRI显示广泛的斑片状或融合状白质病变，尤其在额叶和枕叶。在所有有症状的患者中，常规T2加权像上锥体束受影响程度比周围组织轻。4例有DWI的病例中有3例在WML内显示小点状弥散受限。波谱分析显示肌醇（mIns）、胆碱（Cho）和乳酸水平升高，而N - 乙酰天门冬氨酸（NAA）降低。无症状突变携带者在其相应年龄出现异常明显的非特异性WML。在无症状突变携带者中未检测到弥散受限或代谢物水平改变。任何患者均未发现微出血。弥散受限似乎是HDLS疾病进展活跃患者的一种典型影像学表现。波谱分析结果以及无微出血的情况与伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）和皮质下动脉硬化性脑病的报道结果明显不同。虽然无症状病例中WML的分布和特征仍不具特异性，但它们可能是HDLS的亚临床标志物。
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disease caused by mutations within the colony stimulating factor 1 receptor (CSF1R) gene. While a small number of reports on imaging findings in routine MRI exist, reported imaging findings in DWI and spectroscopy are scarce, and limited to not genetically proven case reports. We assessed MRI including DWI and MR spectroscopy in six patients with HDLS and two asymptomatic mutation carriers. A total of 13 MRIs were evaluated and a score of the white-matter lesion (WML) load was calculated. The course of MR abnormalities was followed for 6-19 months in four patients and 95 months in one carrier. MRI revealed widespread white-matter lesions of patchy or confluent pattern especially in the frontal and occipital lobe. The pyramidal tract was less affected than the surrounding tissue in all symptomatic patients on conventional T2WI. Three of four cases with DWI showed small dots of diffusion restriction within WML. Spectroscopy showed increased levels of mIns, Cho and lactate while NAA was decreased. Asymptomatic mutation carriers had, for the age of the patients, unusually pronounced unspecific WMLs. No diffusion restriction or alterations in metabolite levels could be detected in asymptomatic mutation carriers. Microbleeds were not found in any patient. Diffusion restriction seems to be a typical imaging pattern visible in patients with active disease progression in HDLS. Spectroscopic findings and the absence of microbleeds differ clearly from reported findings in CADASIL and subcortical arteriosclerotic encephalopathy. While the distribution and character of WMLs in asymptomatic cases remain unspecific they are likely to represent subclinical markers of HDLS.