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Flashcards in Phakomatoses Deck (9)
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1

What is Neurofibromatosis type 1 or von Recklinghausen disease? Clinically?

Clinical diagnosis (2 or more):
>6 cafe au last spots
two or more neurofibromas
optic nerve glioma
sphenoid wing dysplasia
two or more iris hamartoma
axillary or inguinal freckling
primary relative with NF 1 criteria

Chromosome 17

2

What is Neurofibromatosis type 1 or von Recklinghausen disease? (Pathologically)

Breast : Neurofibromatosis of the breast
Central nervous system:
FASI - focal areas of signal intensity
Optic nerve glioma
Progressive sphenoid dysplasia
Lamboid suture defects
Dural calcification
Moya moya
Buphthalmos

Cutaneous: benign peripheral nerve sheath tumors

Skeletal : kyphoscoliosis
Posterior vertebral body scalloping
Hypoplastic posterior elements
Enlarged neuroforamina
Rib notching
Dural ectasia
Limb hemihypertrophy

Thoracic:
Mediastinal masses
Lung parenchymal disease

Vascular:
Aneurysms
Renal artery stenosis
Coarctation

3

What is Neurofibromatosis type 1 or von Recklinghausen disease? Neoplasms

Pheochromocytoma
Malignant peripheral nerve sheath tumor
Wilms tumor
Rhabdomyosarcoma
Renal angiomyolipoma
Glioma: Juvenile pilocytic astrocytoma, optic nerve glioma, diffuse brainstem glioma, spinal astrocytoma and spinal pilocytic astrocytoma
Carcinoid tumors
Leiomyoma
Leiomyosarcoma
Ganglioma
Leukemia

4

What are the features of Neurofibromatosis type 2? (mnemonic)

M - multiple
I - inherited
S - schwannomas
M - meningiomas
E - ependymomas

Classic - bilateral vestibular schwannomas

5

What is the difference between NF 1 and NF 2?

THESE ARE NOT RELATED

There are no neurofibromas in NF2 - it is a misnomer

6

What are the genetics of NF2?

Long arm of chromosome 22
Autosomal dominant

7

What is the clinical presentation of tuberous sclerosis?

Vogt triad:seizures, mental retardation, adenoma sebaceum

8

What are the genetics of tuberous sclerosis?

Most are sporadic mutations with some autosomal dominant

9

What are the neurological manifestations of tuberous sclerosis?

Cortical/subcortical tubers
Subependymal hamartomas
Subependymal giant cell astrocytomas (SGCA)
White matter abnormalities
Retinal phakomas
RARE: cerebellar atrophy, infarcts, cerebral anerysms, dysgenesis of corpus callosum, chiari malformations, microcephaly, arachnoid cysts, chordoma