Hereditary diffuse leukoencephalopathy with spheroids (HDLS)
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.
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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.
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.