title: Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions.
abstract: Adult onset leukodystrophy with neuroaxonal spheroids is an uncommon cause of dementia. Both hereditary (autosomal dominant) and sporadic cases have been described. A 41-year-old African woman presented with inappropriate behavior and personality change consistent with frontal lobe dysfunction. MRI demonstrated diffuse frontoparietal white matter signal abnormality and volume loss, as well as focal enhancing white matter lesions, while CT scan showed white matter calcifications. She had been gradually deteriorating over the last 5 years, diagnosed as having progressive demyelinating illness. She died of recurrent chest infections. There was no familial history. The brain showed prominent symmetrical white matter changes with greyish discolorization mainly affecting the frontal and parietal lobes, with less involvement of the temporal lobe and only mildly affecting the occipital white matter. Histology revealed deep white matter atrophy with many neuroaxonal spheroids labelled by neurofilament and β-amyloid precursor protein. In addition, scattered inactive demyelinating plaque-like lesions were found in the periventricular areas, brainstem and the cervical spinal cord. This case had typical features of an adult onset leukodystrophy with neuroaxonal spheroids. However, we also demonstrated demyelinating plaque-like lesions, which has not been previously described. The possibility of a demyelinating origin contributing to the changes may be considered in the pathogenesis of this condition.
authors: Department of Clinical Neuropathology, King's College Hospital, NHS Foundation Trust, London, UK.
authors: Elena
authors: E
authors: Martinez-Saez
authors: Sachit
authors: S
authors: Shah
authors: Carme
authors: C
authors: Costa
authors: Simon
authors: S
authors: Fleminger
authors: Stephen
authors: S
authors: Connor
authors: Istvan
authors: I
authors: Bodi
mesh_terms: D000328:Adult; D016564:Amyloid beta-Protein Precursor / Q000378:metabolism; D001284:Atrophy; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000473:pathology* / Q000523:psychology; D001933:Brain Stem / Q000473:pathology; D003704:Dementia / Q000209:etiology / Q000523:psychology; D003711:Demyelinating Diseases / Q000473:pathology*; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D016900:Neurofilament Proteins / Q000378:metabolism; D009483:Neuropsychological Tests; D010296:Parietal Lobe / Q000473:pathology; D010551:Personality; D018874:Spheroids, Cellular / Q000473:pathology*; D013116:Spinal Cord / Q000473:pathology; D013702:Temporal Lobe / Q000473:pathology; D014057:Tomography, X-Ray Computed
chemical_list: D016564:Amyloid beta-Protein Precursor; D016900:Neurofilament Proteins