Hereditary diffuse leukoencephalopathy with spheroids mimicking primary progressive aphasia: report of a Greek case.

Panagiotis Stoiloudis, Dimitrios Parissis, Nikoletta Smyrni, Thomai Stardeli, Theodora Afrantou, Eleni Konstantinopoulou, Nikolaos Grigoriadis, Panagiotis Ioannidis

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 Aug

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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. © 2021. Fondazione Società Italiana di Neurologia.

Citation

Panagiotis Stoiloudis, Dimitrios Parissis, Nikoletta Smyrni, Thomai Stardeli, Theodora Afrantou, Eleni Konstantinopoulou, Nikolaos Grigoriadis, Panagiotis Ioannidis. Hereditary diffuse leukoencephalopathy with spheroids mimicking primary progressive aphasia: report of a Greek case. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2021 Aug;42(8):3431-3433