Phakomatoses

Question 1

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

Answer 1

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

Question 2

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

Answer 2

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

Question 3

What is Neurofibromatosis type 1 or von Recklinghausen disease? Neoplasms

Answer 3

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

Question 4

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

Answer 4

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

Classic - bilateral vestibular schwannomas

Question 5

What is the difference between NF 1 and NF 2?

Answer 5

THESE ARE NOT RELATED

There are no neurofibromas in NF2 - it is a misnomer

Question 6

What are the genetics of NF2?

Answer 6

Long arm of chromosome 22

Autosomal dominant

Question 7

What is the clinical presentation of tuberous sclerosis?

Answer 7

Vogt triad:seizures, mental retardation, adenoma sebaceum

Question 8

What are the genetics of tuberous sclerosis?

Answer 8

Most are sporadic mutations with some autosomal dominant

Question 9

What are the neurological manifestations of tuberous sclerosis?

Answer 9

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