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Teaching NeuroImages

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A 61-year-old man with progressive gait imbalance and skin lesions

Teaching NeuroImages

Neurology®

Resident & Fellow Section

© 2020 American Academy of Neurology

(2)

Vignette

Budhram et al.

• A 61-year-old man developed progressive gait imbalance and papular skin lesions over nine months

• Fatigue reported but no other constitutional symptoms

• Neurologic examination revealed gait ataxia

• Brain MRI demonstrated punctate enhancing foci supratentorially, and patchy pontine T2-hyperintensity without pituitary or orbital abnormality

• Skin biopsy: histiocytic neoplasm. CD1a,negative; S100,weakly positive; positive,CD163, Factor 13A, BRAF V600E

© 2020 American Academy of Neurology

(3)

Figure 1 Figure 2

Budhram et al.

© 2020 American Academy of Neurology

(4)

Brain and skin involvement in Erdheim-Chester disease

• Brain involvement occurs in up to half of patients with Erdheim- Chester disease

• Brain involvement may manifest radiographically as pontine or cerebellar T2-hyperintensity

• Multifocal punctate enhancement has also been reported

• Skin involvement is observed in ~25% of patients

• Xanthelasma-like lesions are most common, although cutaneous xanthoma-like lesions are also possible

Budhram et al.

© 2020 American Academy of Neurology

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