Table 1 Thirteen CNS biopsy or autopsy-proven cases
Case no/age (years)/sexInitial neurological presentationLater neurological featuresPrior/associated systemic featuresKveim testGallium scanChest x rayMRI brain/spineSerum angiotensin-converting enzymeCSF proteinCSF oligoclonal bandsCSF white-cell countOutcome
Case 1 53/FDiplopia, vomiting, somnolenceMemory impairment, ataxia, INO sensory, seizureNoneNot doneNot doneNormalHydrocephalusNot doneNot doneNot doneNot doneDeath within 3 years
Meningeal enhancement
Case 2 25/MHeadache, ataxia, visual failure, nerve 6, diplopia optic atrophyHemiparesis, emotional lability, personality changeNonePositiveNot doneNormalHydrocephalus, pituitary massNormalNot doneNot doneNot doneDeath within 13 years
Meningeal enhancement
Case 3 44/FAtaxia, vertigo, vomitingNoneCough, dyspnoeaPositiveNot doneParenchymal changesHydrocephalusNormalNot doneNot doneNot doneModerate disability
Meningeal enhancement
Case 4 50/FAtaxia, Jacksonian seizure, generalised seizureHeadache, fatigue, memory impairmentNonePositiveNot doneParenchymal changesWhite-matter lesionsNormalNot doneNot doneNot doneMinor disability
Case 5 41/MHeadache, visual failure, vomiting, ataxia, sensory, papilloedema, confusionFatigueNoneNegativeNot donePleural effusionHydrocephalusElevated*11.1 g/lNegative*50, (50% L)Moderate disability
Case 6 37/MNausea, vomiting, ataxia, depression, impotenceHeadache, bradykinesia, visual failure, anterior uveitis, optic atrophyAdenopathyNegativeNot doneBihilar adenopathyHydrocephalus, atrophy, white-matter lesionsNot done4.3 g/lNot done23 L†Death within 21 years
Spine normal
Case 7 39/MVisual failureNoneNoneNegativeNot doneNormalWhite-matter lesions, mass lesion, meningeal enhancementNormalNot doneNot doneNot doneMinor disability
Somnolence, fatigue, optic atrophy
Case 8 31/MHemiparesisVisual failureNoneNot doneNot doneNormalWhite-matter lesions, mass lesion, meningeal enhancementNot doneNormalNegativeNormalModerate disability
Case 9 54/MHemianopiaMemory impairment, ataxia, dysarthria, dysphasia, somnolence, optic atrophy, intention tremorNoneNot doneNot donePositiveAtrophy, white-matter lesions, meningeal enhancementNormal2.36 g/lNegativeNormalSevere disability
Case 10 32/FHeadache, hypopituitarism, diplopiaNoneNonePositiveNot doneBihilar adenopathyPituitary massNot doneNot doneNot doneNot doneMinor disability
Case 11 41/FNausea, vomitingHeadache, fatigue, ataxia, eye movement disorder, cognitive impairmentCoughPositiveNot doneParenchymal changesHydrocephalus, enhancing lesion 4th ventricleNot doneNot doneNot doneNot doneModerate disability
Case 12 26/MSensory, headachesMonoparesisSkin changesNot doneNot doneParenchymal changesHydrocephalusNot doneNot doneNot doneNot doneModerate disability
Case 13 37/MLower-limb weakness and paraesthesiaUrinary frequency and incomplete bladder emptyingNoneNot doneNot doneNormalSpine initially normal; repeat with gadolinium—enhancement of conusNot done3.2 g/lNegative59 LSevere disability
  • *Significantly elevated CSF protein and pleocytosis related to shunt infection.

  • †Actual cause of death was carcinoma of the colon.

  • CSF, cerebrospinal fluid; INO, internuclear ophthalmoplegia; L, lymphocytes.