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Radiology.Academy.Sk

Phakomatoses

NF1: Neurofibromatosis type 1
- AD, Chromosome 17, 1:5.000
- Cafe Au Lait Spots
- Neurofibromas
- Optic Nerve Gliomas
- Hamartomas, gliosis
- Bone dysplasias
- Vascular dysplasias

NF2: Neurofibromatosis type 2 MISME
- MISME: Multiple Inherited Schwannomas, Meningiomas, Ependymomas
- 1:40.000, AD, Chromosome 22
- few skin manifestations
- Bilateral Acustic Schwannomas
- Meningiomas
- Ependymomas

Tuberous Sclerosis
- 1:12.000, AD, Chromosome 9
- Seizures, Mental Retardation, Adenoma Sebaceum, Ash leaf spots
- SEGA: Subependymal Giant Cell Astrocytoma
- AML: AngioMyoLipomas of the kidney
- LAM: Lymphangiomyomatosis
- Cortical tubers, subependymal nodules (hamartomas)
- Gray matter heterotopias
- Cardiac Rhabdomyoma
- Adenoma of the liver
- Skeletal cysts

Sturge Weber
- a.k.a Encephalotrigeminal Angiomatosis, 1:50.000, no clear pattern of inheritance
- Facial port wine stain
- Paraplegia, hemiatrophy
- Seizures, Mental retardation, Visual field defects
- Retinal Telenagiectasias (hemorrhage and glaucoma)
- Leptomeningeal venous angiomas lead to cortical calcifications
- Possible Dyke-Davidoff-Mason
- Visceral angiomas

Von-Hippel Lindau
- 1:36.000, Chromosome 3
- CNS Hemangioblastomas
- Retinal Hemangioblastomas and angiomas
- Pheochromocytoma
- Renal cell carcinoma 50%
- Cysts in any visceral organs