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Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study. 2010

Farrah J Mateen, and B Mark Keegan, and Karl Krecke, and Joseph E Parisi, and Max R Trenerry, and Sean J Pittock
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

Leucodystrophy with neuroaxonal spheroids (LNS) is rare. There have been fewer than 10 sporadic cases reported, all occurring in the fourth to sixth decades of life. Previously unreported diffusion weighted imaging (DWI) changes on brain imaging in LNS are described as well as the first neurocognitive profile of this disorder in a 24-year-old woman. Neuropsychological testing demonstrated a global cognitive decline, with deficits most representative of a frontal-subcortical dementia. Bright DWI and corresponding dark apparent diffusion coefficient changes were initially mistaken for acute cerebral infarction but then persisted for 19 weeks. Biopsy of a bright DWI lesion showed no evidence of vascular disease and confirmed this rare diagnosis. Given the number of patients with the diagnosis of cerebrovascular disease, supported by DWI findings, we propose other milder cases of LNS may be overlooked.

UI MeSH Term Description Entries
D009483 Neuropsychological Tests Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury. Aphasia Tests,Cognitive Test,Cognitive Testing,Cognitive Tests,Memory for Designs Test,Neuropsychological Testing,AX-CPT,Behavioral Assessment of Dysexecutive Syndrome,CANTAB,Cambridge Neuropsychological Test Automated Battery,Clock Test,Cognitive Function Scanner,Continuous Performance Task,Controlled Oral Word Association Test,Delis-Kaplan Executive Function System,Developmental Neuropsychological Assessment,Hooper Visual Organization Test,NEPSY,Neuropsychologic Tests,Neuropsychological Test,Paced Auditory Serial Addition Test,Repeatable Battery for the Assessment of Neuropsychological Status,Rey-Osterrieth Complex Figure,Symbol Digit Modalities Test,Test of Everyday Attention,Test, Neuropsychological,Tests, Neuropsychological,Tower of London Test,Neuropsychologic Test,Test, Cognitive,Testing, Cognitive,Testing, Neuropsychological,Tests, Cognitive
D001921 Brain The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. Encephalon
D003072 Cognition Disorders Disorders characterized by disturbances in mental processes related to learning, thinking, reasoning, and judgment. Overinclusion,Disorder, Cognition,Disorders, Cognition
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001369 Axons Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body. Axon
D012720 Severity of Illness Index Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder. Illness Index Severities,Illness Index Severity
D055815 Young Adult A person between 19 and 24 years of age. Adult, Young,Adults, Young,Young Adults
D019150 Neuroaxonal Dystrophies A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927) Neuroaxonal Dystrophy, Juvenile,Seitelberger's Disease,Adult Neuroaxonal Dystrophy,Infantile Neuroaxonal Dystrophy,Juvenile Neuroaxonal Dystrophy,Late Infantile Neuroaxonal Dystrophy,NBIA, PLA2G6-Related,NBIA2A,Neuroaxonal Dystrophy, Adult,Neuroaxonal Dystrophy, Infantile,Neuroaxonal Dystrophy, Late Infantile,Neurodegeneration With Brain Iron Accumulation 2A,Neurodegeneration, PLA2G6-Associated,Seitelberger Disease,Disease, Seitelberger,Disease, Seitelberger's,Dystrophy, Adult Neuroaxonal,Dystrophy, Infantile Neuroaxonal,Dystrophy, Juvenile Neuroaxonal,Dystrophy, Neuroaxonal,NBIA, PLA2G6 Related,Neuroaxonal Dystrophy,Neurodegeneration, PLA2G6 Associated,PLA2G6-Associated Neurodegeneration,PLA2G6-Related NBIA,Seitelbergers Disease
D038524 Diffusion Magnetic Resonance Imaging A diagnostic technique that incorporates the measurement of molecular diffusion (such as water or metabolites) for tissue assessment by MRI. The degree of molecular movement can be measured by changes of apparent diffusion coefficient (ADC) with time, as reflected by tissue microstructure. Diffusion MRI has been used to study BRAIN ISCHEMIA and tumor response to treatment. Magnetic Resonance Imaging, Diffusion,Diffusion MRI,Diffusion Weighted MRI,Diffusion MRIs,MRI, Diffusion Weighted

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