Bone lesions |
Clinical |
Histiocytosis; Erdheim Chester disease |
Lung involvement |
Clinical |
Sarcoidosis; Lymphomatoid granulomatosis |
Multiple cranial neuropathies or pol-yradiculopathy |
Clinical |
Chronic meningitis, including sarcoidosis and tuberculosis; Lyme disease |
Peripheral neuropathy |
Clinical |
B12 deficiency; adrenoleukodystrophy; metachromatic leukodystrophy, Lyme disease |
Tendon xanthomas |
Clinical |
Cerebrotendinous xanthomatosis |
Cerebral venous sinus thrombosis |
MRI |
Behçet’s disease; vasculitis; chronic meningitis, antiphospholipid or anticardiolipin antibody syndromes |
Cardiac disease |
Clinical |
Multiple cerebral infarcts; brain abscesses with endocarditis or right to left cardiac shunting |
Myopathy |
Clinical |
Mitochondrial encephalomyopathy (e.g.,MELAS); Sjögren’s syndrome |
Cortical infarcts |
MRI |
Embolic disease; thrombotic thrombocytopenic purpura; vasculitis |
Hemorrhages/ microhemorrhages |
MRI |
Amyloid angiopathy; Moya Moya disease; CADASIL; vasculitis |
Meningeal enhancemen |
MRI |
Chronic meningitis; sarcoidosis; lymphomatosis; CNS vasculitis |
Extrapyramidal features |
Clinical |
Whipple’s disease; multisystem atrophy; Wilson’s disease |
Livedo reticularis |
Clinical |
Antiphospholipid antibody syndrome; systemic lupus erythematosus; Sneddon’s syndrome |
Retinopathy |
Clinical |
Mitochondrial encephalomyopathy; Susac, and other vasculitides (retinal infarction); neuronal ceroid lipofuscinosis |
Calcifications on CT scans |
MRI |
Cysticercosis; toxoplasmosis, mitochondrial disorders |
Diabetes insipidus |
Clinical |
Sarcoidosis; histiocytosis |
Increase serum lactate level |
Clinical |
Mitochondrial disease |
Selective involvement of the anterior temporal and inferior frontal lobe |
MRI |
CADASIL |
Hematological manifestations |
Clinical |
Thrombotic thrombocytopenic purpura; vitamin B12 deficiency; Wilson’s disease (hemolytic anemia); copper deficiency |
Lacunar infarcts |
MRI |
Hypertensive ischemic disease; CADASIL; Susac syndrome |
Persistent Gd-enhancement and continued enlargement of lesions |
MRI |
Lymphoma; glioma; vasculitis; sarcoidosis |
Mucosal ulcers |
Clinical |
Behçet’s disease |
Myorhythmia |
Clinical |
Whipple’s disease |
Hypothalamic disturbance |
Clinical |
Sarcoidosis; neuromyelitis optica; histiocytosis |
Recurrent spontaneous abortion or thrombotic events |
Clinical |
Antiphospholipid antibody syndrome; thrombotic thrombocytopenic purpura; metastatic cancer with hypercoagulable state |
Simultaneous enhancement of all lesions |
MRI |
Vasculitis; lymphoma; sarcoidosis |
Rash |
Clinical |
Systemic lupus erythematosus; T-cell lymphoma; Lyme disease, Fabry disease |
T2-hyperintensity in the dentate nuclei |
MRI |
Cerebrotendinous xanthomatosis |
Arthritis, polyarthalgias, myalgias |
Clinical |
Systemic lupus erythematosus; Lyme disease; fibromyalgia |
Amyotrophy |
Clinical |
Amyotrophic lateral sclerosis; syringomyelia; polyradiculpathy |
Headache or meningismus |
Clinical |
Venous sinus thrombosis; chronic meningitis; lymphoma or glioma, vasculitis, systemic lupus erythematosus |
T1-hyperintensity of the pulvinar |
MRI |
Fabry disease; hepatic encephalopathy; manganese toxicity |
Persistently monofocal manifestations |
Clinical |
Structural lesion (e.g., Chiari malformation); cerebal neoplasm |
Large and infiltrating brainstem lesions |
MRI |
Behçet’s disease; pontine glioma |
Predominance of lesions at the cortical/subcortical junction |
MRI |
Embolic infarction; vasculitis; progressive multifocal leukoencephalopathy |