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A 55-year-old woman developed diabetes insipidus and slowly progressive psychiatric symptoms, dating to her first pregnancy when aged 30 years. On examination, she had exophthalmos, visual misperception, multidirectional nystagmus, ataxic-spastic gait, bilateral finger dystonia, reduced left-sided sensation and brisk reflexes in all limbs. MR scan of the brain showed multiple tumourous/granulomatous infratentorial lesions (figures 1 and 2), with progressive involvement of the hypothalamic–pituitary axis (figure 3). Cerebrospinal fluid showed histiocytic proliferation with non-specific morphological analysis. Despite responding initially to corticosteroids, she rapidly worsened, and died from hepatorenal impairment before we had histologically confirmed histiocytosis.
MR scan of the spinal cord (turbo spin echo sagittal (A) and axial (B) sequences) showing multiple tumorous/granulomatous lesions throughout the cord (red arrows). MR scan of the brain (FLAIR sequences) showing multiple tumorous/granulomatous lesions involving (C) cerebellum, middle cerebellar peduncles …
Footnotes
Contributors F Giammello: Drafting/revision of the manuscript for content, including medical writing for content; major role in the acquisition of data; study concept or design; analysis or interpretation of data. F Grillo: Drafting/revision of the manuscript for content, including medical writing for content. F Granata: Major role in the acquisition of data; analysis or interpretation of data. K Galletta: Analysis or interpretation of data. PL: Drafting/revision of the manuscript for content, including medical writing for content. AT: Drafting/revision of the manuscript for content, including medical writing for content. RFM: Drafting/revision of the manuscript for content, including medical writing for content; major role in the acquisition of data; study concept or design.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Provenance and peer review. Not commissioned. Externally peer reviewed by Emma Tallantyre, Cardiff, UK.
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