Neuro - Weird diseases Flashcards
Sturge Weber
Congenital noninherited somatic developmental anomaly of neural crest derivatives (mesoderm, ectoderm) due to activating mutation of GNAQ gene.
Affects small capillary sized vessels leading to port wine stain on the face.
Seizures and epilepsy.
Intellectual disability.
Remember STURGE-Weber Sporadic / Port wine STAIN Tram track Ca2+ Unilateral Retardation Glaucoma /GNAQ Epilepsy
Tuberous sclerosis
HAMARTOMAS Hamartomas in CNS and skin Angiofibromas Mitral regurgitation Ash-leaf spots Cardiac rhabdomyoma Tuberous sclerosis Autosomal dominant Mental retardation Renal angiomiolipoma Seizure Shagreen patches
Incidence subendymal astrocytoma and ungual fibroma
Remember nature theme: tubers, ash trees, rhubarb
Neurofibromatosis Type I
Von Recklinghausen Disease
Remember that there are 17 letters in Von Recklinghousen and this is on chromosome 17.
Cafe au lait spots. Lisch nodules / pigmented iris hamartomas. Neurofibromas in skin, optic gliomas, pheochromocytomas.
Mutated NF1 tumor suppresor gene / neurofibromin, a negative regulator of Ras
Skin tumors of NF1 are derived from neural crest cells.
Von Hippel Lindau disease
Cavernous hemangiomas in skin, mucosa, organs
Bilateral renal cell carcinomas
Hemangioblastoma - high vascularity with hyperchromatic nuclei - in retina, brain stem, cerebellum
Pheochromocytoma
Picture an agitated hippo with bleeding eyes eating kidney beans.
Autosomal dominant.
Mutated VH tumor suppressor gene on chromosome 3 (VHL has 3 words).
This results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors.