Onder Halil, Oguz Kader Karli, Soylemezoglu Figen, Varli Kubilay
Department of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ann Indian Acad Neurol. 2020 May-Jun;23(3):280-288. doi: 10.4103/aian.AIAN_474_19. Epub 2020 Jun 10.
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.
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.
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.
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.
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.
遗传性弥漫性白质脑病伴球状体（HDLS）于1984年首次被描述，是一种罕见的疾病。一般来说，它在成年期出现，表现为痴呆、运动障碍、锥体外系异常和癫痫。通过脑活检进行明确诊断。神经影像学研究显示，在传统磁共振成像上，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存在弥散受限；此外，更罕见的报告强调持续的弥散受限灶作为诊断性影像学标志物。
在此，我们旨在展示首个经活检证实的土耳其HDLS家系，该家系由3代18人组成，其中有4名患者。
使用1.5特斯拉（T）扫描仪，对HDLS家系中的4名个体[2名患者（患者III-1和患者III-2）和2名未受影响个体（患者II-4和患者III-5）]进行传统MRI和弥散加权成像（DWI）检查。通过神经检查和简易精神状态检查对所有4名个体进行评估。对患者III-2进行脑活检研究。最后，对涉及HDLS患者病理检查和神经影像学研究的大量文献进行了综述。
两名受调查患者的DWI显示深部白质病变伴有持续的弥散受限。计算机断层扫描成像显示病变中有点状矿化。患者III-2的活检标本显示有HDLS典型的轴突球状体。
通过展示我们的家系并进行文献综述，我们建议将HDSL作为未确诊的成年起病型家族性白质脑病患者的一线鉴别诊断，特别是那些具有额叶白质和半卵圆中心MRI病变且伴有弥散受限灶和矿化的患者。最后，我们认为深部白质病变中弥散受限的持续存在应作为HDLS的一个关键神经影像学征象加以牢记。
