High Yield Syndromes

Question 1

Lemierre syndrome:

Answer 1

Venous thrombophlebitis of tonsillar and peri tonsillar veins and spread into IJV.
Fusobacterium Necrophorum

Question 2

T21

Answer 2

Multiple abnormalities…

Question 3

CHARGE Syndrome:

Answer 3

Coloboma (Gap in iris or retina)
Heart defects
Atresia of choanae
Retardation of development
Genitourinary anomalies
Ear anomalies.

Question 4

Swyer James Syndrome:

Answer 4

Aquired abnormality of pulmonary development secondary to constrictive bronchiolitis.
Leads to unilateral hyper lucent lung with volume loss.
Adenovirus commonly associated.

Question 5

Holt Oram Syndrome:

Answer 5

ASD

Upper extremity bone deformities - absence / hypoplasia thumb

Question 6

PHACES Syndrome:

Answer 6

P: Posterior fossa - Dandy Walker
H: Haemangioma
A: Arterial anomalies
C: Coarctation / cardiac defects
E: eye anomalies
S: Sub glottic haemangiomas.

Question 7

Gardner Syndrome: “DOPE Gardner”

Answer 7

D: Desmoid tumours
O: osteomas
P: Papillary thyroid cancer
E: epidermoid cysts

Gardner - hyperplastic stomach polyps, adenomatous bowel polyps.

Question 8

Tucot syndrome:

Answer 8

Familial adenomatous polyposis - hyperplastic stomach polyps and adenomatous bowel polyps.

Gliomas and meduloblastomas

Question 9

Peutz Jeghers syndrome:

Answer 9

Polypsosis syndrome, with mucocutanous pigementation and increased risk for small and large bowel Ca, pancreatic Ca, and gynae ca.

Question 10

Cowden syndrome:

Answer 10

Harmatomas
Breast Ca, Thyroid Ca,
Lhermitte Duclos - see this check for breast and thyroid Ca.

Question 11

Cronkhite Canada:

Answer 11

Harmatomas
Stomach, small bowel, colon cancer risk
Not typical heriditary.

Question 12

Caroli Disease:

Answer 12

AR associated with polycystic kidney disease and medullary sponge kidney.
Intra hepatic ductal dilation, large and saccular.
Central dot sign.
NO extra hepatic involvement.
Complications: cholangiocarcinoma, cirrhosis, cholangitis, intraductal stones.

Question 13

Wolman disease:

Answer 13

Bilateral enlarged calcified adrenals in child

Question 14

MEN 1

Answer 14

PPP
P: Pituitary adenoma
P: Parathyroid hyperplasia
P: Pancreatic tumour - gastrinoma most common.

Question 15

MEN 2A:

Answer 15

PMP
P: Pheochromocytoma
M: Medullary thyroid carcinoma
P: Parathyroid hyperplasia

Question 16

MEN 2B:

Answer 16

MPM:
M: Medullary thyroid carcinoma
P: Pheochromocytoma
M: Mucosal neuromas
(Marfanoid body habitus)

Question 17

von Hippel Lindau disease features:

Answer 17

“HIPPEL”
Haemangioblastoma
Increased risk of RCC
Pheochromocytoma
Pancreatic lesions (cyst, cystadenoma, cystadenocarcinoma)
Eye dysfunction: retinal haemangioblastoma, endolymphatic sac tumour.
Liver / renal / pancreatic cysts.

Question 18

Plummer Vinson Syndrome:

Answer 18

Oesphageal Web
Iron defiency anaemia
dyspahgia
Thyroid issues
spoon shaped nails

Question 19

Carneys Triad: “Carneys Eat Garbage”

Answer 19

Chondroma - pulmonary
Extra adrenal Pheo
GIST

Question 20

Lemmel Syndrome

Answer 20

Lemmel syndrome is defined as obstructive jaundice caused by a periampullary duodenal diverticulum compressing the intrapancreatic common bile duct with resultant bile duct dilatation.

Question 21

Turner Syndrome:

Answer 21

Ante natal:
Cystic hygroma / increased nuchal translucency / fold.
aortic co arctation, bicuspid aortic valve
Horse shoe kidney

Musculoskeletal
scoliosis
short 4th metacarpal: positive metacarpal sign
narrowing scapholunate angle: positive carpal sign
abnormal medial femoral condyle
decreased carpal angle: Madelung deformity
short stature
webbed neck
valgus deformity of the elbow: increased carrying angle (cubitus valgus)

Pelvic ultrasound
streaky uterus
streak ovary

Gastrointestinal
pyloric stenosis

Question 22

Mayer Rokitansky Kuster Hauser syndrome:

Answer 22

Vaginal atresia
absent / rudimentry uterus - unicornuate / bicornuate
Normal ovaries
Renal agenesis / ectopia.

Question 23

NF 1:

Answer 23

Neurofibromatosis type 1 (NF1) 1.

These diagnostic criteria can be remembered with the mnemonic:

CAFE SPOT

C: café-au-lait spots (greater than six seen during one year)
A: axillary or inguinal freckling
F: fibromas (neurofibroma (two or more) or plexiform neurofibroma (one))
E: eye hamartomas (Lisch nodules)
S: skeletal abnormalities, e.g. sphenoid wing dysplasia, leg bowing
P: positive family history
OT: optic tumour (optic nerve glioma)

Question 24

Tuberous Sclerosis:

Answer 24

HAMARTOMAS

H: hamartomas (CNS and skin)
A: angiofibroma (facial); adenoma sebaceum
M: mitral regurgitation
A: ash-leaf spots
R: rhabdomyoma (cardiac)
T: tubers (cortical, subcortical)
O: autOsomal dominant (autosomal sounds like starting with letter “O” )
M: mental retardation
A: angiomyolipoma (renal)
S: seizures; Shagreen patches / SEGA / Sub ependymal nodules.

Pulmonary and abdominal LAM
RCC rates similar but occur at earlier age.

Question 25

Sturge Weber

Answer 25

STURGE CAPS

S: seizures, sporadic
T: tram track gyriform calcification; trigeminal territory port-wine stain
U: unilateral weakness (hemiparesis - contralateral to facial naevus)
R: retardation
G: glaucoma, GNAQ gene
E: epilepsy

C: calvarial thickening, choroid plexus enlargement
A: atrophy of ipsilateral cerebral hemisphere
P: pial angiomatosis
S: sinus (paranasal) enlargement