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Erdheim-Chester disease presenting as precipitous cognitive decline
  1. Sophie Dunkerton1,
  2. Ross Penninkilampi2,
  3. Heidi Beadnall2,3,
  4. Michael Fulham2,3,
  5. Andrew Colebatch2,
  6. Stacey Jankelowitz2,3,
  7. Rebekah Ahmed2,3,
  8. Zoe Thayer4,5,
  9. Michael Halmagyi2,3,
  10. Edward Abadir3,6
  1. 1Neurology, John Hunter Hospital, New Lambton Heights, New South Wales, Australia
  2. 2Neurology, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia
  3. 3The University of Sydney, Sydney, New South Wales, Australia
  4. 4Institute of Clinical Neurosciences, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia
  5. 5Macquarie University, Sydney, New South Wales, Australia
  6. 6Haematology, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia
  1. Correspondence to Dr Ross Penninkilampi, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia; ross.penninkilampi{at}health.nsw.gov.au

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A 71-year-old Caucasian woman had a 1-month history of imbalance, forgetfulness and disinhibition. She had been previously well and was a recently retired linguistics academic, but had recently neglected self-care and had become housebound. On examination, there was mild right upper limb dysmetria and sway on the Romberg’s test. Neuropsychological testing identified marked deficits in executive function, recall and tasks requiring new verbal and visual learning.

Laboratory investigations showed mild neutrophilic leucocytosis (white cell count 10.9×109/L), hypoalbuminaemia (30 g/L) and elevated serum gamma-glutamyl transferase (133 U/L). Chest X-ray was normal. Serum antineuronal antibodies were negative but serum anti-GABA-B antibodies were positive. Cerebrospinal fluid (CSF) white cell count was 8x109/µL (≤5) and red cell count was 19x1012/µL (0) (presumed traumatic tap), but with normal protein (0.43 g/L) and glucose (3.4 mmol/L). Oligoclonal bands were detected as was an IgG lambda paraprotein, too small to quantify. The serum free light chain kappa/lambda ratio was 1.23 (normal). …

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Footnotes

  • Contributors SD and RP contributed equally to this paper.Conception of report: SD, RP, HB and EA. Drafting of manuscript: SD, RP, HB and AC. Contribution of relevant expertise for inclusion in manuscript: HB, MF, SJ, RA, ZT, MH, EA and AC. Critical review of manuscript for intellectual content: SD, RP, HB, MF, MH and EA. All listed authors were involved in the care of the patient listed.

  • 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 Not commissioned. Externally peer reviewed by Johann Selvarajah, Glasgow, UK.

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