pathology IV Flashcards
Is sturge-weber syndrome hereditary?
No its a congenital non-hereditary syndrome
Pathophys (genetics) of sturge weber
Anomaly of neural crest derivatives. Somatic mosaicism of an activating mutation in one copy of the GNAQ gene.
Which gene is mutated in sturge-weber?
GNAQ
Presentation of sturge-weber
it affects capillary-sized blood vessels- port-wine stain in CNV1/V2 distribution
- ipsilateral leptomeningeal angioma -> seizures/epilepsy
- intellectual disability
- episcleral hemangioma -> increased intraocular pressure and glaucoma
What does SSTURGGE-Weber stand for?
Sporadic Stain (port wine) Tram track calcifications (in opposing gyri) Unilateral Retardation Glaucoma GNAQ mutation Epilepsy
genetics of tuberous sclerosis
Autosomal dominant with variable expression
TSC1 mutation on chromosome 9 or TSC2 mutation on chormosome 16
(tumour supressor gene)
How does tuberous sclerosis present? (Think HAMARTOMASS)
Hamartomas in CNS and skin Angiofibromas Mitral regurgitation Ash-leaf spots cardiac Rhabdomyoma (Tuberous sclerosis) Autosomal dOminant mental retardation Angiomyolipoma Shagreen patches
Neurofibromatosis I inheritance
AD
Neurofibromatosis I gene mutation
NF I tumour suppressor gene on chromosome 17 (encodes neurofibromin, a negative RAS regulator)
Neurofibromatosis I presentation
cafe-au-lait spots, intellectual disability, cutaneous neurofibromas, lisch nodules, optic gliomas, pheochromocytomas, seizures/focal neurologic signs, bone lesions.
penetrance of NFI
100%
Neurofibromatosis II inheritance
AD
Neurofibromatosis II mutation
NF2 tumour suppressor gene on chromosome 22
Neurofibromatosis II presentation
bilateral vestibular schwannomas, juvenile cataracts, meningiomas, ependymomas (eyes ears and parts of the brain)
von Hippel-Lindau disease genetics
AD
