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Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a paediatric autosomal dominant dysmyelinating disease.1 Rare adult onset cases manifest with personality change, cognitive decline and gait impairment.1–3 Diagnosis is often made following brain biopsy with the presence of giant neuroaxonal swellings known as spheroids.4
Characteristic brain MRI abnormalities of HDLS include decreased T1-weighted signal intensity of the frontoparietal white matter and corpus callosum.2 T2-weighted images reveal patchy increased signal intensity in the subcortical white matter with corticospinal tract involvement.1–4 To our knowledge, this is the first report of an abnormal apparent diffusion coefficient (ADC) map in HDLS.
A previously healthy 46-year-old man presented following a 1 year history of slurred speech and word finding difficulty that progressed until …
Competing interests None.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.