Familial Tumor Syndromes Dysgenetic Syndromes Flashcards
What are the different types of familial tumor syndromes?
Tuberous sclerosus Von Hippel-Lindau syndrome Sturge-Weber Syndrome Neurofibromatosis
What type of disorder is a Tuberous sclerosis?
autosomal dominate
Where is Tuberous sclerosis found?
Hamartomas in CNS Cysts in liver, kidneys, and pancreas
How does tuberous sclerosis present?
May present with seizures, autism, retardation Involve mutations encoding for hamartin
Tuberous sclerosis
What is the shape of tuberous sclerosis in the brain?
Wedge shaped
Upclose pic of gyrus with Tuberous sclerosis
Histological pic of Tuberous sclerosis
What type of inheritance is von Hippel-lindau
autosomal dominate
- Hemangioblastoma: CNS, optic n., retina
- Kidney: renal cysts and carcinoma
- Pheochromocytoma
- Cysts or cystadenomas in a variety of organs
- VHL tumor suppressor gene regulating:
–Endothelium, erythropoietin, other growth factors
•Usual clinical onset after age 30
Hemangioblastoma
What are the characteristics of Sturge-Weber Syndrome
•Hemangiomas of face and meninges
–Ophthalmic division of trigeminal nerve (encephalotrigeminal angiomatosis)
•Rare congenital disorder (all sporadic)
•Onset early childhood:
–Mental retardation, seizures, hemiplegia
•Cortical calcification may occur (radiopacities in the skull)
When does seizures happened in Sturge-Weber Syndrome?
in the first two years of life
What are the haracteristics of Neurofibromatosis 1 (NF1) Peripheral?
•Type 1 (autosomal dominant)
–tumor supp. gene at 17q11.2 (neurofibromin)
–neurofibromas, benign and malignant
–gliomas of optic nerve
–pigmented nodules in skin and retina
–asymptomatic, spinal deformities, disfiguring lesions, & compression of vital structures
