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Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: novel imaging findings
  1. Lysa Boissé1,
  2. Omar Islam2,
  3. John Woulfe3,
  4. Samuel K Ludwin4,
  5. Donald G Brunet1
  1. 1Division of Neurology, Kingston General Hospital, Queen's University, Kingston, Ontario, Canada
  2. 2Division of Radiology, Kingston General Hospital, Queen's University, Kingston, Ontario, Canada
  3. 3Department of Pathology and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada
  4. 4Division of Pathology, Kingston General Hospital, Queen's University, Kingston, Ontario, Canada
  1. Correspondence to Dr L Boissé, Division of Neurology, Queen's University, 76 Stuart Street, Kingston, ON K7L 2V7, Canada; lboisse{at}gmail.com

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Introduction

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.

Case report

A previously healthy 46-year-old man presented following a 1 year history of slurred speech and word finding difficulty that progressed until …

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