Pontocerebellar inflammation and pancytopenia

Dudley, Alex; O'Shea, Derville; Fanning, Noel; Bermingham, Niamh; Sweeney, Brian; Cronin, Simon

Pontocerebellar inflammation and pancytopenia

Files

Dudleyetal-HLHmanuscript-PractNeurol-RevisionGFP_SCFinal_ForCORA.pdf(975.71 KB)

Accepted Version

Date

2025-01-07

Authors

Dudley, Alex

O'Shea, Derville

Fanning, Noel

Bermingham, Niamh

Sweeney, Brian

Cronin, Simon

Publisher

BMJ Group

Published Version

https://doi.org/10.1136/pn-2024-004405

Abstract

Case presentation A 19-year-old woman had a 1-week history of gradual onset headache, vomiting, double vision and unsteadiness. She had been previously well. She had no sick contacts and her last foreign travel had been to Nepal over 5 years before. She was febrile at 38.4°C but systemic examination was otherwise normal. She had an ataxic gait, left sixth and seventh cranial nerve palsies, brisk lower limb reflexes and right ankle clonus. Cerebrospinal fluid (CSF) showed lymphocytic pleocytosis with 24 cells/µL (≤5), protein was raised to 1.01 g/L (0.15–0.45) and glucose was 3.0 mmol/L (plasma 5.1). Viral and bacterial tests, including TB stains and culture, were negative. There were no oligoclonal bands. Routine bloods, inflammatory markers, infective serology, vasculitis screen and serum angiotensin-converting enzyme (ACE) were normal. MR scan of brain showed extensive leptomeningeal enhancement; as well as patchy white matter signal abnormality and curvilinear enhancement mainly affecting the pons and cerebellum but also in the right frontal lobe (figure 1). MR scan of spine showed a short segment of right-sided T2 high signal and patchy enhancement in the thoracic cord.

Keywords

Haemophagocytic lymphohistiocytosis (HLH) , CNS neuroinflammatory syndrome , Familial HLH , Neurosarcoidosis , CLIPPERS

Citation

Dudley, A., O'Shea, D., Fanning, N., Bermingham, N., Sweeney, B. and Cronin, S. (2025) 'Pontocerebellar inflammation and pancytopenia', Practical Neurology. https://doi.org/10.1136/pn-2024-004405