Background: Hereditary diffuse leukoencephalopathy with spheroids (HDLS), first described in 1984 is a rare disorder. Generally, it presents at adulthood with dementia, motor impairment, extrapyramidal abnormalities, and epilepsy. Definitive diagnosis is made by brain biopsy. Neuroimaging studies have revealed confluent white matter lesions predominantly in the frontal lobes, corpus callosum, and corticospinal tracts on conventional magnetic resonance imaging. Only a few reports showed diffusion restriction in the cerebral white matter; furthermore, rarer reports emphasized persistent foci of diffusion restriction as a diagnostic imaging marker. Objective: Herein, we have aimed to illustrate the first biopsy-proven Turkish HDLS pedigree consisting of 18 persons in 3 generations which contained 4 affected individuals. Materials and Methods: Four individuals in the pedigree of HDLS [two affected patients (patient III-1 and patient III-2) and two unaffected individuals (patient II-4 and patient III-5)] were investigated with conventional MRI and Diffusion-weighted imaging (DWI) using 1.5 Tesla (T) scanner. All four individuals were evaluated via neurological examinations and Mini-Mental State Examination. Brain biopsy study was performed on patient III-2. Finally, an extensive literature review involving pathology investigations and neuroimaging studies of HDLS patients was conducted. Results: DWIs of two investigated patients showed deep white matter lesions with persistent diffusion restriction. Computed tomography imaging showed punctate mineralization in the lesions. Biopsy specimens of patient III-2 demonstrated axonal spheroids which were typical for HDLS. Conclusions: Via the presentation of our pedigree and literature review, we suggest HDSL as a first-line differential diagnosis in patients with undiagnosed adult-onset familial leukoencephalopathy, in particular, those with MRI lesions of frontal white matter and centrum semiovale associated with foci of diffusion restriction and mineralization. Finally, we think that the persistence of the diffusion restriction in deep white matter lesions should be kept in mind as a crucial neuroimaging sign for HDLS.


中文翻译：

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以 MRI 持续弥散限制为诊断线索的深部白质病变：一个土耳其家族的球状遗传性弥漫性白质脑病的神经影像学和文献回顾。


背景：遗传性弥漫性球状白质脑病（HDLS）于 1984 年首次描述，是一种罕见的疾病。通常，它在成年期出现痴呆、运动障碍、锥体外系异常和癫痫。明确的诊断是通过脑活检做出的。神经影像学研究显示，在常规磁共振成像中，融合性白质病变主要位于额叶、胼胝体和皮质脊髓束。只有少数报告显示脑白质弥散受限；此外，很少有报道强调弥散限制的持续病灶作为诊断成像标志物。客观的：在此，我们旨在说明第一个经活检证实的土耳其 HDLS 谱系，该谱系由 3 代 18 人组成，其中包含 4 名受影响的个体。材料和方法： HDLS 谱系中的 4 个个体 [2 名受影响的患者（患者 III-1 和患者 III-2）和 2 名未受影响的个体（患者 II-4 和患者 III-5）] 使用常规 MRI 和 Diffusion-使用 1.5 特斯拉 (T) 扫描仪的加权成像 (DWI)。所有四个人都通过神经系统检查和简易精神状态检查进行了评估。对患者 III-2 进行脑活检研究。最后，对HDLS患者的病理学调查和神经影像学研究进行了广泛的文献回顾。结果：两名被调查患者的 DWI 显示深部白质病变伴持续弥散受限。计算机断层扫描成像显示病变中的点状矿化。患者 III-2 的活检标本显示轴突球体，这是 HDLS 的典型特征。结论：通过我们的家系介绍和文献回顾，我们建议将 HDSL 作为未确诊的成人家族性家族性白质脑病患者的一线鉴别诊断，特别是额叶白质和半卵圆中心 MRI 病变与脑白质病灶相关的患者。扩散限制和矿化。最后，我们认为深部白质病变中弥散限制的持续存在应被视为 HDLS 的关键神经影像学标志。