Cranial Tumors Flashcards
Describe astrocytoma
Present in the posterior fossa
Mostly affects the cerebellum
Most common brain tumour in children
Diagnosis of astrocytoma
GFAP+
Hpe- Rosenthal crystals seen
Describe medulloblastoma
Most common cause of malignant brain tumour in children
Causes non communicating hydrocephalus
Can affect the vermis causing truncal ataxia
Diagnosis of medulloblastoma
HPE- Homer wright rosettes
Synaptophysin +
Describe craniopharyngyoma
Calcifications and cholesterol crystals present
Due to remnants of rathke pouch
Genetics of Struve Weber
Somatic mosaicism in one of the copy of GNAQ
Presentation of Struve Weber
Port wine stain in V1 V2 distribution
I/l leptomeningeal calcifications
Episcleral hemangioma causing glaucoma
Genetics of tuberous sclerosis
AD
Mutation in tumor suppressor gene
TSC1 - chromosome 9
TSC2 - chromosome 16
Features of tuberous sclerosis
Hamartomas in CNS skin
Angifibromas in skin
Shagreen patches
Renal angiolipomas
Cardiac rhabdomyomas
Mitral regurgitation
Increased incidence of what in tuberous sclerosis
Subeoendymal giant cell astrocytoma
Ungual fibromas
Genetics of NF1
Ad
Mutation of tumor suppressor gene NF1 on chromosome 17
Features of NF1
Cafe au lait spots
Intellectual disabilities
Cutaneous neurofibromas
Lisch nodules
Optic glioma
Pheochromocytoma
Seizures
Genetics of Von Hipple lindau
Ad
Deletion of VHL gene in chromosome 3
Features of VHL
Hemangioblastomas
Angiomatosis
Bilateral renal cell carcinoma
Pheochromocytoma
