Syndromes

Question 1

VACTERL

Answer 1

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

Question 2

Von hippel lindau syndrome

Answer 2

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

Question 3

Multiple endocrine neoplasia syndromes

Answer 3

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

Question 4

Tuberous sclerosis

Answer 4

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

Question 5

Birt-Hogg-Dube

Answer 5

AD

Basal and subpleural thin walled ovoid pulmonary cysts, ->pneumothorax

Oncocytomas and chromophobe RCC

Cutaneous fibrofolliculomas, skin tags, BCC, SCC

Question 6

NF1

Answer 6

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

Question 7

NF2

Answer 7

Multiple inherited Schwannomas, meningiomas and ependymomas

AD. 50% sporadic. Presents approx age 20

NF2 gene for Merlin protein

Question 8

Digeorge

Answer 8

Conotruncal abn (tof most common)
Abnormal facies
Thymus hypoplasia
Cleft palate 
Hypoparathyroid
22q11 deletion