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

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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.

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We take full responsibility for the data and interpretation and we have full access to all of the data.

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Authors and Affiliations

  1. 2nd Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Stilponos Kyriakidi Street 1, 54636, Thessaloniki, Greece

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

Authors
  1. Panagiotis Stoiloudis
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  2. Dimitrios Parissis
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  3. Nikoletta Smyrni
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  4. Thomai Stardeli
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  5. Theodora Afrantou
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  6. Eleni Konstantinopoulou
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  7. Nikolaos Grigoriadis
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  8. Panagiotis Ioannidis
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Contributions

All authors have contributed substantively to the conception, design, or analysis and interpretation of the data, have contributed substantively to the drafting of the manuscript or critical revision for important intellectual content, have given final approval of the version to be published, and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Corresponding author

Correspondence to Panagiotis Stoiloudis.

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Ethical approval

Approval was obtained from the ethics committee of Aristotle University of Thessaloniki. The procedures used in this study adhere to the tenets of the Declaration of Helsinki.

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Written informed consent was collected from the patient for the inclusion of de-identified clinical data in a scientific publication.

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The authors declare no conflict of interest.

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Stoiloudis, P., Parissis, D., Smyrni, N. et al. Hereditary diffuse leukoencephalopathy with spheroids mimicking primary progressive aphasia: report of a Greek case. Neurol Sci 42, 3431–3433 (2021). https://doi.org/10.1007/s10072-021-05257-4

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  • DOI: https://doi.org/10.1007/s10072-021-05257-4

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