Term
genetics Neurofibromatosis-1
(Von Recklinghausen's disease) |
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Definition
1. autosomal dominant
2. 1/3000, 1/3 are new mutations
3. chromosome 17, encoding for protein "neurofibromin" |
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Term
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Definition
1. multiple nerve sheath tumors along peripheral nerves
2. plexiform neurofibroma
3. optic nerve glioma (bilateral) in 1st decade of life
4. brain parenchyma tumors
5. hyperpigmented patches over midline of back indicate underlying neurofibroma spinal cord or nerve roots
6. hydrocephalus |
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Term
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Definition
1. cafe-au-lait spot
2. axillary or inguinal freckles |
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Term
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Definition
pathognomonic of NF-1
prone to malignant progression
braiding of axons and nerve sheath, feels like bag of worms when palpated
grows within nerve, so entire nerve must be removed |
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Term
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Definition
NF-1
brown macular lesions usually distributed over the trunk that increase in number and size with age |
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Term
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Definition
NF-1
pigmented nodules on iris |
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Term
| associated non-CNS tumors in NF-1 |
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Definition
1. Wilm's tumor
2. pheochromocytoma
3. leukemia
4. fibromas of visceral peripheral nerves |
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Term
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Definition
1. autosomal dominant
2. chromosome 22
3. 1/50,000 |
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Term
| pathognomonic lesion of NF-2 |
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Definition
| bilateral acoustic schwannoma |
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Term
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Definition
*neoplastic and maldevelopmental lesions primarily seen in cranial cavity and vertebral canal
1. bilateral acoustic schwannoma
2. tumors of brain parenchyma cells
3. schwannomas
4. syringomyelia |
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Term
| genetics of tuberous sclerosis |
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Definition
1. autosomal dominant
2. 1/10,000-1/30,000, 1/2 cases new mutations
3. chromosome 9 (TSC1), encodes for hamartin
4. chromosome 16 (TSC2), encodes for tuberin |
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Term
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Definition
1. seizures
2. mental retardation
3. skin lesions |
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Term
| skin lesions of tuberous sclerosis |
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Definition
1. adenoma sebaceum: pathognomonic
2. depigmented nevi: earliest sign, "ash leaf spots"
3. shagreen patches
4. subungual fibromas |
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Term
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Definition
TS
angiofibroma - nodular, reddish brown rash on the face, particularly in the nasolabial folds |
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Term
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Definition
| irregularly shaped raised pale patches with the feel of untanned leather |
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Term
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Definition
| angiofibromas under the nails |
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Term
| CNS manifestations of tuberous sclerosis |
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Definition
1. classic "tuber"
2. subependymal nodules
3. intracranial calcifications: 60-70% of cases
4. subependymal giant-cell astrocytoma |
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Term
| tuber of tuberous sclerosis |
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Definition
grotesque enlarged gyrus on surface of brain
microscopically: loss of normal lamination, presence of enlarged bizarre cells that contain neural and glial markers |
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Term
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Definition
TSC
similar histologic features to tubers, appear as small lumps bulging into the ventricular system
referred to as "candle gutterings" |
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Term
| subependymal giant-cell astrocytoma |
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Definition
TSC
tumor-like proliferation of the same sort of bizarre cells that are seen in the tubers and teh subependymal nodules; not malignant but may obstruct CSF flow -> hydrocephalus |
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Term
| visceral manifestations of tuberous sclerosis |
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Definition
hamartomatous lesions involving more than one germ layer
most common are cardiac rhabdomyomas, then lungs, kidneys and GI |
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Term
| genetics of Von Hippel-Lindau disease |
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Definition
1. autosomal dominant
2. high penetrance
3. chromosome 3
4. 1/39,000 |
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Term
| clinical features of Von Hippel-Lindau disease |
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Definition
1. retinal hemagioblastomas >5yrs old
2. cerebellar hemangioblastomas >15yrs, may be associated with polycythemia
3. hemangiomas elsewhere in CNS
4. renal lesions, renal cell CA in 28%
5. cysts in GI tract
6. pheochromocytoma
7. adrenal adenoma |
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Term
| skin lesion of Sturge-Weber Syndrome |
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Definition
hemangioma of opthalmic division of V (port wine stain)
-unilateral, may involve mouth and throat |
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Term
| CNS lesion of Sturge-Weber syndrome |
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Definition
venous angioma of pia mater, ipsilateral to facial hemagioma
-occipital most common, underlying cortex has neuronal loss, gliosis and calcification |
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Term
| clinical features of Sturge-Weber syndrome |
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Definition
1. seizures starting in first months of life
2. homonymous hemianopsia (contralateral to port wine)
3. mental retardation
4. hemiplegia (contralateral to port wine)
5. glaucoma |
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