N E U R O D D x
POSTERIOR FOSSA MASS - CHILD
Cerebellum/IVth Ventricle
- Medulloblastoma - midline, vermian or roof - usually hyperdense on plain CT - often enhance homogeneously - Astrocytoma
- usually PILOCYTIC ASTROCYTOMA - 2/3 are cystic with mural nodule - cyst fluid denser than CSF due to protein
- Ependymoma - INTRA-ventricular - "cast" of lumen - 50% are calcified
Brainstem - Brainstem glioma - expands brainstem (infiltration w/o destruction) - hydrocephalus (may be late)
Extraaxial fluid collection
- Large cisterna magna ("Mega Cisterna Magna")
- Epidermoid inclusion cyst
- Arachnoid cyst (may bevel inner table of skull) - Dandy Walker cyst of 4th ventricle (look for vermian abnormalities)
- Vermian agenesis
- Chronic subdural hematoma
COMMENT: For a posterior fossa mass one should consider the direction of displacement of the 4th ventricle to assess from which compartment it arises
POSTERIOR FOSSA MASS - ADULT
Extraaxial:
- Vestibular Schwannoma (CPA)
- Meningioma
- Ependymoma
Intraaxial:
Metastasis - most common intraaxial neoplastic post fossa mass in adult
Hemangioblastoma - cystic or solid - angio shows hypervascularity & stain
Astrocytoma - usually not vascular on angio
Medulloblastoma - often more lateral in adults Lymphoma Abscess Infarct
CEREBELLAR ATROPHY
Drugs
- Alcohol (vermis)
- Dilantin (hemispheres)
- Chemotherapeutic agents
Vascular process (incl. infarction)
Trauma
Hyperthyroidism
Paraneoplastic - lung, breast, lymphoma, ovary
Olivopontocerebellar degeneration
COMMENT: Cerebellar sulci > 1 mm, enlarged 4th ventricle, enlarged cisterns
MASS IN CLIVUS
Chordoma - bone destruction
Meningioma - hyperostosis
Local invasion
- nasopharyngeal cancer
- pituitary tumor
Metastasis
Chondrosarcoma (more often paramedian)
COMMENT: A basilar artery aneurysm may appear to arise from the clivus - look for pulsationartifact in the phase encoding direction
BRAINSTEM LESION
Brainstem glioma
- present with cranial nerve palsies
- hydrocephalus less common
Infarction
Hemorrhage - often hypertensive
Pontine myelinolysis ("central", aka. "Osmotic Myelinolysis")
Multiple sclerosis
Metastasis
Basilar artery aneursym/dolichoectasia may displace brainstem
CEREBELLOPONTINE ANGLE TUMOR
Vestibular Schwannoma (aka. "Acoustic neuroma")
- enlarges IAC, rounded mass in cistern
- enhances with IV contrast and Gadolinium DTPA
- large (>2.5 cm) schwannomas heterogeneous
- bilateral lesions in NF-2
Meningioma
- does not enlarge IAC
- enhances homogeneously
Epidermoid
- hypodense
- enlarges cistern
- serpentine margin
- FLAIR sequence may distinguish from CSF (arachnoid cyst)
Exophytic brainstem glioma
- progressive cranial nerve palsies
Acquired Epidermoid ("Cholesteatoma")
-erupts from middle ear
- signs of mastoiditis, Hx of ear infection
Metastasis
Basilar artery aneurysm
Glomus jugulare
Trigeminal schwannoma (may "dumbell" into middle fossa)
Arachnoid cyst (homogeneous CSF density and signal)
CT PROGRESSION OF INTRACRANIAL HEMATOMA
(change from HYPER- to HYPO- dense over time)
Initially - 60 - 90 Hounsfield Units (HU)
2 days - 70 HU
3 weeks - 30 HU
>5 weeks - <30 HU
20% show enhancing rim at 2-6 weeks
MRI APPEARANCE OF INTRAPARENCHYMAL HEMATOMA
(T1/T2: II, ID, BD, BB, DD (I-iso, D-dark, B-bright)
Hyperacute - minutes to hours (DD => II)
- T1WI - hematoma hypointense (deoxyHb) => isointense
- T2WI - hematoma hypointense (deoxyHb) => isointense
Acute - 0-2 days (ID => BD)
- deoxyhemoglobin in intact RBCs with surrounding edema
- T1WI - hematoma isointense, low signal intensity (SI) edema
- T2WI - hematoma decreased SI at center, high SI edema
Subacute - 2-14 days (BB)
- deoxyhemoglobin changes to methemoglobin from outer to inner
- T1WI - outer core shows increased SI
- T2WI - Outer core shows increased SI due to shortened T1, longer T2
Chronic - 14 days (BB => DD)
- hemosiderin laden macrophages at periphery
- T1WI - inner core now also increased SI, rim has low SI
- T2WI - inner core also has increased SI, rim has low SI
Chronic - months later (DD)
- hemosiderin laden macrophages at periphery
- T1WI - mostly iso-/decreased SI, rim has lower SI
- T2WI - markedly hypointense rim has low SI - "blooms" with greater T2-weighting
COMMENT: T1WI = T 1 weighted image T2WI = T 2 weighted image SI = signal intensity
CT PROGRESSION OF ISCHEMIC INFARCT
Initially - 30 HU
1 day - <30 HU
Enhance ~3 days till 6 weeks
Mass effect peaks at 3-5 days
- seen in 20 % of ischemic infarcts
- a significant mass effect is a poor prognostic sign
After 8th week - 50% have "negative mass effect" (atrophy)
CAUSES OF SUBARACHNOID HEMORRHAGE
Trauma (most common, but different clinical presentation)
* Ruptured aneurysm (classic "Worst HA of my life!")
* Arteriovenous malformation
Neoplasm
Hypertensive hemorrhage (after rupture through brain or ventricle)
COMMENT: CT identifies a subarachnoid hemorrhage in upto 80 - 95% of cases.
A negative CT does not rule out a small subarachnoid hemorrhage - therefore LP needed with classiscHx.
SAH => angiogram. If 1st angio negative (spasm, clot, etc) then follow-up angio in 2-4 wks.
After 2 normal angio => workup spine for source of blood (e.g. spinal AVM, spinal neoplasm (ependymoma)).
SUBDURAL vs. EPIDURAL
Subdural
- Crescentic shape
- Can layer along falx or tentorium
- Acute 1-7 d
- dense on CT
- MRI isointense on T1WI, decreased on T2W
- Subacute 7-21 d
- isodense on CT
- MRI increased on T1WI and T2WI
- Chronic >21 d
- hypodense on CT, may have enhancing rim
- MRI decreased intensity on T1WI, isointense on T2WI
Epidural
- Biconvex (lenticular)
- Does not cross cranial sutures (unless Fx crosses or previous surgery)
- OUTSIDE (external) to dural sinus
- middle fossa common (laceration of middle meningeal artery)
- may occur in posterior fossa after Fx lacerates transverse sinus
INTRAVENTRICULAR TUMOR
Colloid cyst
- often at foramen of Munro (3rd ventricle)
- hyperdense and enhancing
Choroid plexus papilloma
- usually in lateral ventricles in infants
- more often in 4th ventricle in adults
Meningioma
- uncommonly
Ependymoma
- 4th ventricle
Metastasis - to choroid plexus
Subependymal Giant Cell Astrocytoma (f. of Monro, attach to caudate, 90% have Tuberous Sclerosis)
Astrocytoma
Central Neurocytoma (usually attached to septum pellucidum)
COMMENT: Both CPP and Meningioma arise within choroid, and derive blood supply from choroid vessels.
3rd VENTRICULAR MASS
Anterior
- Colloid cyst
- Meningioma
- Ependymoma
- Choroid plexus papilloma (least common location)
- AVM (unusual)
- Basilar artery aneurysm (exotic)
Posterior
- Pineal region tumors (see below)
- Tectal glioma
- Epidermoid
- Meningioma
COMMENT: The 3rd ventricle is least common location for ependymoma and CPP.
PINEAL REGION TUMOR
Germ cell origin (about 60%)
- Germinoma
- 40 - 50% of ALL pineal region tumors
- 2/3 of all Germ-cell origin tumors
- tumor surrounds calcified gland
- Engulfed calcification
- homogeneous, dense on plain CT
- Teratoma
- heterogeneous
- may have fat/lipid
- Teratocarcinoma
- Embryonal cell/yolk sac/choriocarcinoma
Pineal parenchymal tumors
- exploded calcification
- radiosensitive
- Pineocytoma
- hyperdense
- Pineoblastoma
- very malignant, a type of PNET
Tectal glioma
Meningioma (falx, tentorium)
Metastasis
Vein of Galen Malformation (including aneurysmal dilatation of vein of Galen)
EXTRA-AXIAL TUMORS
Meningioma
- parasagittal > convexities > sphenoid ridge > subfrontal > juxtasellar > tentorial > posterior fossa > floor of middle cranial fossa
Epidermoid
- Dermoid
- Lipoma (midline, ALL fat, may have callosal agenesis)
Arachnoid cyst
Bony lesion
Meningeal infiltration by lymphoma or leukemia (may look epidural/subdural in shape) Carcinomatous meningitis
SUPRATENTORIAL TUMOR
Glioma (30-40%)
- Glioblastoma (astro grade IV)
- Astrocytoma
- Oligodendroglioma
- Ependymoma
Metastasis (20-30%)
Meningioma (16%)
Pineal gland tumors
Lymphoma
BASAL GANGLIA CALCIFICATIONS
Birth anoxia
Idiopathic (most common) bilateral and symmetrical
Radiation TX
Toxoplasmosis / CMV - usually not limited to basal ganglia
Hypoparathyroidism / pseudohypoparathyroidism
Infarct
COMMENT: * BIRTH *
SUPRASELLAR MASS
("SATCHMOE" - nickname for Louis Armstrong, deceased jazz musician extraordinaire)
Sellar/Parasellar neoplasm
- pituitary adenoma
Aneurysm - sharply marginated - densely enhancing on CT, "pulsation artifact" on MR
Germ Cell tumor ("ectopic pinealoma" - a misnomer)
Teratoma - heterogeneosu,iso-/lipid - small - solid
Craniopharyngioma - children>adults - calcified 75% - cystic 75%
Hypothalamic glioma - children /
Histiocytosis (Diabetes Insipidus)
Meningioma / metastasis
Optic glioma - erodes sphenoid - visual loss
Epidermoid/Dermoid inclusion cyst
COMMENT: For parasellar mass, add carotid-cavernous fistula and cavernous or other carotid aneurysm
SELLAR MASS
Pituitary adenoma
Craniopharyngioma
Meningioma
Metastasis
Epidermoid
Abscess
Aneurysm
Pituitary bleed - apoplexy (post-partum or into adenoma)
Pituitary sarcoid
Rathke cleft cyst (usually intrasellar, may extend out)
Germinoma
RING ENHANCING LESION (CT)
Primary brain tumor (glioblastoma) - irregular thick ring
Metastasis (especially if on ChemTx)
Abscess
- ring is more smooth and regular
- thinner on medial (WM) side
Multiple sclerosis - in white matter
Resolving hematoma - 10-21 days - usually has perilesional lucency
Tuberculoma - associated extracranial TB often found - irregular ring
Infarct
Radiation necrosis - 9 months-3 years after Rtx > 4000 rads
Postoperative change (at edges of resection)
Aneurysm - due to intraluminal thrombus
LOW DENSITY MASS LESION (CT)
Lipoma - (-) CT # (- 60 -90 HU, not merely low, but very low)
Epidermoid - due to inclusion of ectoderm
- often lateral, occasional midline
Arachnoid cyst - CSF density/intensity
- most at temporal tip/ middle fossa P
orencephalic cyst (brain defect)
Infarct (acute from edema, chronic from encephalomalacia)
Pilocytic astrocytoma (cyst fluid)
Ventricle/cistern
Chronic subdural
HYPERDENSE LESION WITHOUT CONTRAST
Meningioma
- 20% also show hyperostosis
- 2/3 show peritumoral edema
Lymphoma (small round blue-cell tumor - densely cellular)
- primary is usually intraaxial
- secondary is often extraaxial
Metastasis - * MRCT * Melanoma/Renal cell Ca/Choriocarcinoma/Thyroid
Medulloblastoma (small round blue-cell tumor - densely cellular)
Glioblastoma
Ependymoma
Colloid cyst (inspissated mucus)
Hemorrhage (acute) / hemorrhagic infarct
Craniopharyngioma
Germinoma (pineal and suprasellar)
MULTIPLE ENHANCING LESIONS
Hematogenous:
Metastases
- 45 -55% of CNS mets multiple
- >2cm often cavitate
- usually near gray-white junction (peripheral > central)
Lymphoma
- usually deeper, periventricular, may be rings in
AIDS Disseminated infection (multiple abscesses)
Multifocal infarction
Inflammatory/Unknown Etiology:
Multiple Sclerosis (white matter lesions)
Vasculitis
Hypertensive Crisis/Ecclampsia
Inherited Mass Lesions/Neoplasms:
Hemangioblastoma (von Hippel-Lindau)
Arteriovenous malformations (cavernous hemangioma >> AVM) Meningiomas - 4% are multiple (some with NF-2, most without)
Multicentric gliomas - 5% of all gliomas
Tuberous sclerosis
Neurofibromatosis (both types - NF1 (von Recklinhausen) and NF2 (MISME)
GYRAL ENHANCEMENT:
* Ischemia/Infarction (incl. seizures, migraines, etc.)
* Cerebritis/Encephalitis (e.g. Herpes)
Meningeal carcinomatosis (carcinomatous meningitis)
Meningitis - chronic > acute
AVM
Cortical vein thrombosis
Lymphoma
Meningioangiomatosis (NF2)
COMMENT: Sturge-Weber will be dense without contrast due to tram track calcification in cortex underlying a meningeal venous angioma
CAUSES OF HYDROCEPHALUS (literally "water on the HEAD")
Communicating (decreased reabsorption)
- Normal pressure hydrocephalus
- prominent temporal horns
- s/p infection - meningitis
- s/p subarachnoid hemorrhage
- Dural vein thrombosis
Non-communicating (mechanical obstruction to flow)
- Aqueductal stenosis
- postinflammatory or congenital
- Tumors - especially colloid cyst
- Congenital anomalies
- Dandy-Walker cyst of 4th ventricle
- Arnold-Chiari malformation
Overproduction (increased production)
- Choroid plexus papilloma
COMMENT: Mimicked by atrophy - "hydrocephalus ex vacuo"
MIDLINE SHIFT
Intracranial mass
- Tumor
- Large infarct with edema
- Intracerebral bleed
Extracerebral collection
- Epidural hematoma
- Subdural hematoma
- Empyema
Unilateral atrophy
HYDROCEPHALUS vs. ATROPHY (CT)
Hydrocephalus (ventricles >> sulci)
- Ballooned and tight frontal horns - Dilated temporal horns
- Dilated 3rd (hourglass shape) with flow void on MR
- decreased mammillopontine measurement (expanded 3rd pushes mammillary bodies post./inf.
- Dilated 4th ventricle
- Periventricular abnormal signal/density
Atrophy (sulci and ventricles dilate proportionately)
- Large cortical sulci
- Less 3rd ventricular dilatation (with parallel sides NOT hourglass shape)
- Increased with age
COMMENT: Normal pressure hydrocephalus evaluated by nuclear cisternogram. No migration of activity over convexities/persistent intraventricular activity ... 50% aided by shunt ("shunt responsive NPH")
APPROACH TO INTERPRETATION OF ANGIOGRAPHY
What view (lateral, frontal, oblique, submental-vertex, etc)?
What Vessel Was Injected?
What phase (arterial, capillary, venous) of injection?
Localize lesion (hypervascular/hypovascular, mass effect?, shift?)
Check vessels for displacement
- don't forget extracerebral lesions
AP - Anterior cerebral arteries, pericallosal
- Internal cerebral veins
- Sylvian point
LAT - Sylvian triangle
POSTERIOR CIRCULATION (verterbral injection)
- Precentral cerebellar vein
- PICA
Characterize vascularity - increased (Hyper) or decreased (Hypo)
BRANCHES OF INTERNAL CAROTID
Meningohypophyseal trunk (that "Italian artery" Bernasconi-Casanari)
Ophthalmic
Superior hypophyseal
Posterior communicating (infundibulum, connects to PCA)
Anterior choroidal (AChoA - marker for temporal lobe herniation)
Anterior cerebral (ACA)
- Frontopolar
- Callosomarginal
- Pericallosal
Middle cerebral (MCA)
- Lenticulostriate (perforators to basal ganglia)
Internal Carotid (ICA)
- Cervical-Petrous-Cavernous-Supraclinoidsegments
POSTERIOR CIRCULATION BRANCHES
Vertebral
- Muscular (occipital) branches
- Meningeal branch
- PICA Basilar
- AICA
- Superior cerebellar (SCA)
- Posterior cerebral (PCA)
- Posterior communicating
- Posterior choroidal (medial/ and lateral branches)
- Parietoccipital
- Posterior temporal
- Calcarine
EXTERNAL CAROTID BRANCHES
Superior thyroid
Lingual
Facial
Ascending pharyngeal
Occipital
Posterior auricular
Superficial temporal
Internal maxillary
- Middle meningeal (f. spinosum)
DEEP VENOUS DRAINAGE
Anterior septal
Thalamostriate
Internal cerebral veins (paired)
Basal vein(s) of Rosenthal (medial temporal lobe)
Great vein of Galen
Inferior sagittal sinus (free edge of Falx)
Straight sinus
Superior sagittal sinus (don't forget the "Torcular Herophilus")
Transverse sinus
Sigmoid sinus
Internal jugular
COMMENT: Superficial drainage is superficial middle cerebral vein, vein of Trolard and vein of Labbe to superior sagittal sinus
CAUSES OF EARLY DRAINING VEIN - (rapid or short "transit time")
* Neoplasms - primary or secondary
* AVM Inflammatory lesion
Trauma (hyperemia)
Ischemia
Epileptic focus
Toxic encephalopathy
COMMENT: Definition is vein seen < 3 sec after beginning of intracerebral contrast - usually veins drain into Sup Sinus from anterior to posterior
CRANIAL FORAMINA AND CONTENTS
Cribiform plate - CNN-I - Olfactory nerve twigs to nasal vault
Optic canal - CNN-II - Optic nerve and ophthalmic artery
Superior orbital fissure
- III - Oculomotor, IV - Trochlear, V1 - Ophthalmic , VI - Abducens, superior ophthalmic vein
f. Rotundum - V2 Maxillary
f. Ovale - V3 Mandibular and accessory meningeal artery
f. Spinosum - Middle meningeal artery
f. Internal auditory canal - VII (Facial), VIII (Vestibulo-Cochlear)
f. Jugular - Jugular vein, IX -- Glossopharyngeal, X - Vagus, XI- Accessory
f. Hypoglossal - XII Hypoglossal
f. Magnum - Spinal cord, XI Accessory, vertebral arteries, spinal arteries
APPROACH TO INTERPRETATION OF MYELOGRAPHY
Check plain films - for bone destruction, previous surgery, trauma, dysraphism
Contrast used - water-soluble, oily
Filling defects, displacement of sac, cord ?
Compartment involved:
CLASSIC:
Intramedullary (cord lesion)
Extramedullary/Intradural (subarachnoid space)
Extradural (outside the thecal sac)
Conus (How low?)
Roots (Thickend, clumped, displaced?)
Thecal sac (Narrowed? Stenosis?)
INTRAMEDULLARY LESION
Tumors
- Ependymoma (most common, esp in adults)
- Astrocytoma (more common in children/Cx location)
- Medulloblastoma (CSF seeding)
- Lipoma/Dermoid/Epidermoid - especially in dysraphism
- Hemangioblastoma (Von Hippel-Lindau syndrome)
- Metastasis - breast/lung/melanoma
- Syringomyelia/Hydromyelia
- Hematoma Inflammation - myelitis
- AVM-Angioma
Cervical - usually glioma or syrinx
Thoracic - consider teratoma, dermoid, astrocytoma?
EXTRAMEDULLARY/INTRADURAL LESION
Meningioma (most thoracic)
Schwannoma (more common than neurofibroma)
Neurofibroma (erodes bone while extending through neural foramen, usually NF-1)
Drop metastasis - medulloblastoma/ependymoma/pineal dysgerminoma/glioma
Dermoid-Epidermoid (associated with dysraphism ?)
Lipoma - most common location is caudal (also "fatty filum")
COMMENT: Most tumors in this location are benign
EXTRADURAL LESION
Herniated disc (90% at L4-5 and L5-S1)
Osteophyte
Metastasis (Breast-Lung)
Lymphoma
Meningioma
Primary Bone tumor:
- Chordoma
- Osteosarcoma/blastoma
- Myeloma
- Aneurysmal bone cyst
- Giant cell tumor
Neurofibroma (often w/intradural component)
Dermoid-Epidermoid/Lipoma
SACRAL EXPANSILE LESION
Sacrococcygeal Teratoma (often presents in newborn)
Epidermoid cyst
Chordoma (bulky, lobulated mass with bone destruction)
Dural ectasia - meningocele
Dermoid
Lipoma
Giant cell tumor
Aneurysmal bone cyst
OPTIC NERVE THICKENING
Optic nerve glioma (usually pilocytic, often with NF1)
Optic nerve sheath meningioma (tram track lesion outlines normal size nerve)
Papilledema (dilations of SAS that surrounds nerve)
Optic neuritis (MS-Sarcoid)
Orbital pseudotumor
- near globe
- responds to steroid therapy
- thickens muscles AND tendons
Graves' disease
- thickens extraocular muscles
- no tendon involvement
Vascular malformations
- cavernous hemangioma > AVM
- carotid-cavernous fistula
Orbital cellulitis - may be 2nd to ethmoid sinusitis Leukemia Perineuritis Optic nerve hemorrhage
COMMENT: Check optic chiasm for intracranial extension
OCULAR MASS
Child
- Retinoblastoma
- 2/3 "heritable", 1/3 w/Family Hx
- multiple/bilateral if "heritable"
- 90% Ca++
- staging (vitreous, choroidal, scleral, extension?)
Adult
- Choroidal melanoma
- older patient, enhance
- Metastasis - breast, lung, extra-ocular melanoma
- Intraocular lymphoma
- Choroidal hemangioma
RETRO-OCULAR MASS (Intraconal)
Hemangioma
- enhance - phleboliths seen in 10%
Optic nerve glioma
Optic nerve meningioma
Angioma
Lymphangioma
AVM
CONAL MASS
Rhabdomyosarcoma
- bone destruction
- calcification
Thyrotoxic ophthalmopathy
- 88% bilateral
- 80 % medial, inferior rectus muscles
Myositic pseudotumor
EXTRACONAL MASS
Dermoid Mucocele
- occurrence frontal > ethmoid > maxillary > sphenoid
* FEMS
* Lymphoma
Pseudotumor
LACRIMAL GLAND MASS
Unilateral
- Pleomorphic adenoma (histo similar to minor salivary gland tumors)
- benign
- Malignant epithelial cell tumors
- Adenoid cystic carcinoma
- bone destruction
- Pseudotumor - Dacroadenitis
Bilateral (systemic diseases)
- Lymphoma
- Sarcoid
- Collagen vascular disease
RADIOLUCENT SKULL LESION
Metastasis
Normal variant
Epidermoid (intradiploic)
Eosinophilic granuloma ("beveled" margins)
Plasmacytoma
Paget's (widened diploic space)
Burr hole
Fibrous dysplasia (widened diploic space)
Hemangioma (widened diploic space, radial or starburst trabeculae)
Brown tumor of hyperparathyroidism
Osteomyelitis
Erosion from intracranial tumor (usu slow-growing, e.g. meningioma, oligodendroglioma)
OPAQUE PARANASAL SINUS
Acute sinusitis - FLUID
Fracture (blood)
Chronic sinusitis - MUCOSAL THICKENING
Mucocele (obstructed sinus ostium => expanded sinus)
Retention cyst (obstructed mucus gland => round mass)
Polyp
Normal hypoplastic
- OTHER
Cystic fibrosis
Inverting papilloma (bone destruction)
Malignant tumor
EXPANSILE LESION OF SINUS
Fibrous dysplasia
Mucocele
Ossifying fibroma
Extensive polyposis (allergic history?)
PHAKOMATOSES
Tuberous sclerosis
- Autosomal dominant
- Adenoma sebaceum, seizures, mental retardation
- Hamartomas involving many organs, angiomyolipomas of kidneys
- Brain - periventricular subependymal nodules
- Cortical tubers
- 15% develop subependymal giant cell astrocytoma
Sturge-Weber (Encephalotrigeminal angiomatosis )
- No inheritance pattern, congenital malformation
- Port wine nevus of face
- V1 distribution
- Seizures, mental retardation, glaucoma
- CT - gyral calcification and cerebral atrophy
- MR - gyriform enhancement - mass-like choroid plexus
- calvarial/facial thickening
- hemiatrophy and hemiparesis
Von Hippel-Lindau
- Hemangioblastomas - cerebellum, retina, medulla, spinal cord
- Pheochromocytoma (NIH Type 2a or 2b)
- Renal cysts 60%
- Renal cell carcinoma 45%
- Pancreatic cysts, Islet cell tumors, serous adenomas
Von Recklinghausen (Neurofibromatosis Type 1, NF1)
- Autosomal dominant
- Cafe-au-lait spots 6 or more, 15mmm in adult
- fibroma molluscum (multiple cutaneous neurofibromas) - Sphenoid dysplasia - Acute kyphotic scoliosis
- Lateral thoracic meningocele
Type I - chromosome 17 - "peripheral" type (misnomer)
- Peripheral neurofibromas - Other CNS tumors - glioma, optic glioma
Wishart Neurofibromatosis (Bilateral Vestibular Schwannomas) Type II
- chromosome 22 - "central" type (misnomer)
(aka MISME Syndrome: Multiple Inherited Schwannomas, Meningiomas, and Ependymomas)
- Bilateral vestibular schwannomas in "all" patients
- Other CNS tumors - meningioma, spinal cord ependymoma, other cranial and spinal schwannomas
COMMENT: The gliomas of NF-2 are ependymoma, those in NF-1 are astrocytoma (both pilocytic and glioblastoma)