TY - JOUR T1 - Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: novel imaging findings JF - Journal of Neurology, Neurosurgery & Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 313 LP - 314 DO - 10.1136/jnnp.2009.180224 VL - 81 IS - 3 AU - Lysa Boissé AU - Omar Islam AU - John Woulfe AU - Samuel K Ludwin AU - Donald G Brunet Y1 - 2010/03/01 UR - http://jnnp.bmj.com/content/81/3/313.abstract N2 - 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.4Characteristic 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 … ER -