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Teaching NeuroImages

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A 34-year-old woman with cognitive dysfunction

Teaching NeuroImages

Neurology®

Resident & Fellow Section

© 2020 American Academy of Neurology

(2)

Vignette

Rudrabhatla et al.

• A 34-year-old woman with no pre-morbid diseases

• She presented with history of progressive apathy, executive dysfunction and memory impairment of 1 year duration

• Examination revealed moderate frontal dysfunction and bipyramidal signs

© 2020 American Academy of Neurology

(3)

Neuroimaging

Rudrabhatla et al.

© 2020 American Academy of Neurology

(4)

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

(ALSP)

• The presence of symmetric (or asymmetric) non-enhancing white matter lesions with persistent diffusion restriction and corpus

callosum thinning favors the diagnosis of ALSP over acquired demyelination

• Inheritance is autosomal dominant or sporadic

• Next generation sequencing showed a pathogenic heterozygous missense mutation in exon 18 of CSF1R gene (p.Ile794Thr)

confirming this diagnosis

Rudrabhatla et al.

© 2020 American Academy of Neurology

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