Hereditary diffuse leukoencephalopathy with spheroids (HDLS)

Case contributed by Dr Thomas Bloch


Increasing cognitive deficits over 2 years before the medical consultation, which have already led to the loss of the job. Increasing listlessness and depression. The patient is no longer able to cope with everyday life without the help of his parents.

Patient Data

Age: 45 years
Gender: Male

Confluent areas of periventricular white matter hyperintensities in T2 and FLAIR sequences with extensive diffusion restriction. Signs of atrophy with widening of the lateral ventricles.

Case Discussion

The age and clinical course, as well as the periventricular pattern of leukoencephalopathy, led to thinking in the direction of the final diagnosis, despite the rarity of the disease. To confirm the diagnosis, a genetic testing was added, which revealed a pathological mutation in the CSF1R gene.

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Case information

rID: 89257
Published: 4th May 2021
Last edited: 5th May 2021
Inclusion in quiz mode: Included
Institution: Radiologie am Rhein

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