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Case Reports
. 2021 Aug;42(8):3431-3433.
doi: 10.1007/s10072-021-05257-4. Epub 2021 Apr 18.

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

Panagiotis Stoiloudis  1 , Dimitrios Parissis  2 , Nikoletta Smyrni  2 , Thomai Stardeli  2 , Theodora Afrantou  2 , Eleni Konstantinopoulou  2 , Nikolaos Grigoriadis  2 , Panagiotis Ioannidis  2
Affiliations
Case Reports

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

Panagiotis Stoiloudis et al. Neurol Sci. 2021 Aug.

Abstract

Introduction: 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).

Methods: 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.

Discussion: 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.

Keywords: Dementia; HDLS; Hereditary diffuse leukoencephalopathy with spheroids; PPA.

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