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Patient demographics and imaging findings

No.Age (yr)/SexSymptomsAreas of InvolvementBiopsy SitesCNS Imaging Findings
137/FDiffuse bone pain,extremity numbness,gait instability,diabetes insipidusPituitary/hypothalamus,brain stem, calvarium/skull base, spine, appendicular skeleton, lungsBrain stem lesion, lung, left clavicleEnlarged pituitary stalk, FLAIR hyperintensity hypothalamus, FLAIR hyperintensity/enhancement pons, lytic calvarial and mandibular lesions, spinal and sacral lesions (Fig 5)
269/MHydro-nephrosisNo CNS disease demonstrated, retroperitoneum, interstitial lung diseaseRetroperitoneum, lungNA
347/MHydro-nephrosis, diabetes insipidusPituitary, mediastinum, lung, retroperitoneum, appendicular skeletonRenalEnlarged pituitary stalk
466/MDiabetes insipidusBrain stem, sinuses, orbit, appendicular skeleton, retroperitoneum, renalSphenoid sinus, orbit, retroperitoneum, renalT2 hyperintensity pons, sphenoid sinus mass, intraconal orbital mass, enlarged pituitary stalk
569/MDiabetes insipidusNo CNS disease demonstrated, appendicular skeleton, retroperitoneum, chestFemur, lungNA
662/MNumbness head and neck, gait instabilityBrain stem, appendicular skeleton, perinephric infiltrationTibiaFLAIR hyperintensity/enhancement pons and cerebellum (Fig 3)
761/FLeg painNo CNS disease demonstrated, appendicular skeleton, skinExtremity soft tissues, tibiaNA
849/MFatigue, diabetes insipidusOrbits, sella/cavernous sinuses, appendicular skeleton, retroperitoneumOrbitIntra-/extraonal orbital mass (Fig 4), sellar/cavernous sinus mass (Fig 4), enlarged pituitary stalk
960/MAscitesCalvarium/skull base, mesentery, retroperitoneumBone marrowEnhancing calvarial foci
1048/FFatigue, mental status changeIntracranial extra-axial, cerebellum, orbit, skull baseNAIC extra-axial lesions (Fig 1), dentate nucleus hyperintensity, intraconal retrobulbar exophthalmos, sclerotic focus skull base
1164/MAbdominal pain, diabetes insipidus, extremity weaknessIntracranial, intra-axial, brain stem, cerebellum, orbit, mediastinum, retroperitoneum, appendicular skeletonPararenalEpendymal enhancement to lentiform nucleus (Fig 2), FLAIR hyperintensity/enhancement, pons and cerebellum, intraconal orbital mass
  • Note:—NA indicates not applicable; IC, intracranial.