Syndromes Flashcards
VACTERL
Vertebral
Anal atresia
Cardiac anomalies, cleft lip
Trachea - esophageal fistula
Renal anomalies, radial ray anomalies
Limb anomalies: poly or oligodactyly
Sporadic or recessive, no known genetic defect
Von hippel lindau syndrome
3 letters:
3x cns: cerebellar (cyst with nodule and flow void, or just solid nodules) and spinal cord haemangioblastoma (95% associated syrinx), endolymphatic sac tumours
3x pancreas: pancreatic cysts, serous cystadenoma, islet cell tumours
3x abdo: phaeochromocytoma, renal cysts, clear cell RCC
Also ocular angiomas -> retinal detachment, vitreous haemorrhage, epididymal cysts (60% bilateral)
AD. VHL gene. Over-expression VEGF.
Subtype 1: low risk phaeochromocytoma, 2: high
Young adults typically 20s
Multiple endocrine neoplasia syndromes
MEN1: PPP - pancreatic islet cell tumour (gastronoma), pituitary adenoma, parathyroid hyperplasia/adenoma
MEN2a: PPM - medullary thyroid cancer, parathyroid hyperplasia, phaeochromocytoma
MEN2b: PMM - medullary thyroid, phaeochromocytoma, mucosal neuroma/ganglioneuroma
Tuberous sclerosis
Sporadic (75%) or AD phakomatosis characterised by multiple hamartomas. TSC1 and TSC2 tumour suppressor gene mutation.
Classic triad - adenoma sebacum, seizures, retardation
CNS: cortical and subcritical tubers, subependymal nodules, SEGA, radial bands
Abdominal: angiomyolipomas, renal cysts, RCC (same incidence but younger onset)
Thoracic: rhabdomyoma, LAM
Cutaneous: sdenoma sebacum, ash leaf spots
Birt-Hogg-Dube
AD
Basal and subpleural thin walled ovoid pulmonary cysts, ->pneumothorax
Oncocytomas and chromophobe RCC
Cutaneous fibrofolliculomas, skin tags, BCC, SCC
NF1
Cafe au lait spots Axillary or inguinal freckling Fibromas -neurofibromas, plexiform neurofibromas Eye hamartoma (Lisch nodules) Sphenoid wing dysplasia Positive FH OT -optic tumour (optic nerve glioma)
FASI- basal ganglia, thalamus, brainstem, cerebellum
Lateral thoracic meningocoele
AD. 50% spontaneous.
Multiple tumours: phaeochromocytoma, MPNST, Wilms, rhabdomyosarcoma, angiomyolipoma, gliomas (JPA, spinal astrocytoma, diffuse brainstem, optic nerve), carcinoid, leiomyoma, ganglion lions, leukaemia
NF2
Multiple inherited Schwannomas, meningiomas and ependymomas
AD. 50% sporadic. Presents approx age 20
NF2 gene for Merlin protein
Digeorge
Conotruncal abn (tof most common) Abnormal facies Thymus hypoplasia Cleft palate Hypoparathyroid 22q11 deletion