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Primary CNS infiltrative parenchymal histiocytosis
  1. Fabrizio Giammello1,2,
  2. Francesco Grillo2,
  3. Francesca Granata3,
  4. Karol Galletta3,
  5. Paolino La Spina2,
  6. Antonio Toscano4,
  7. Rosa Fortunata Musolino2
  1. 1 International PhD Translational Molecular Medicine and Surgery - Department of Biomedical, Dental Science and Morphological and Functional Images, University of Messina, Messina, Sicilia, Italy
  2. 2 Stroke Unit - Department of Clinical and Experimental Medicine, University of Messina, Messina, Sicilia, Italy
  3. 3 Neuroradiology Unit - Department of Biomedical, Dental Science and Morphological and Functional Images, University of Messina, Messina, Sicilia, Italy
  4. 4 Unit of Neurology and Neuromuscular Disorders - Department of Clinical and Experimental Medicine, University of Messina, Messina, Sicilia, Italy
  1. Correspondence to Dr Fabrizio Giammello, International PhD Translational Molecular Medicine and Surgery - Department of Biomedical, Dental Science and Morphological and Functional Images, University of Messina, Messina, Sicilia, Italy; fabrizio.giammello{at}gmail.com

http://dx.doi.org/10.1136/practneurol-2022-003403

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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.

    Figure 1

    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 …

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    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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