2nd Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Stilponos Kyriakidi Street 1, 54636, Thessaloniki, Greece.
Neurol Sci. 2021 Aug;42(8):3431-3433. doi: 10.1007/s10072-021-05257-4. Epub 2021 Apr 18.
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult onset leukodystrophy, causally related to mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. We report the unique case of a Greek HDLS patient, demonstrating an unusual phenotype, reminiscent of primary progressive aphasia (PPA).
A 63-year-old woman was referred with a 2-year history of deteriorating language and memory deficits, apathy, and two generalized tonic-clonic seizures. Neurological and neuropsychological examination revealed prominent aphasia with a pattern consistent with nonfluent variant of PPA. However, brain MRI disclosed confluent T2 and FLAIR white matter hyperintensities with frontal emphasis, whereas genetic testing corroborated the diagnosis of HDLS.
PPA-like patterns may rarely develop in the context of HDLS. Prompt diagnosis of this leukoencephalopathy is essential, since preliminary data suggest that it could represent a potentially treatable disorder.
球形脑白质病伴弥漫性脑白质疏松（HDLS）是一种成人发病的脑白质营养不良，与集落刺激因子 1 受体（CSF1R）基因突变有关。我们报告了一例希腊 HDLS 患者的独特病例，表现出一种不寻常的表型，类似于原发性进行性失语症（PPA）。
一名 63 岁女性因进行性语言和记忆障碍、淡漠和两次全身强直阵挛性发作就诊。神经学和神经心理学检查显示明显的失语症，表现为非流利型 PPA 的模式。然而，脑 MRI 显示额部为主的弥漫性 T2 和 FLAIR 脑白质高信号，而基因检测证实了 HDLS 的诊断。
PPA 样表现模式在 HDLS 中可能很少见。这种脑白质病的及时诊断至关重要，因为初步数据表明，它可能是一种潜在可治疗的疾病。
