Syndromes

Question 1

VHL

Answer 1

retinal and CNS haemangioblastomas (mostly affecting cerebellum/posterior fossa), endolymphatic sac tumours, renal cysts and tumours (renal
cell carcinoma), pancreatic cysts and tumours (serous cystadenoma, adenocarcinoma and
neuroendocrine tumours), pheochromocytomas, and epididymal cystadenomas.
Retinal haemangioblastomas are among the most frequently and earliest detected VHL
disease lesions.

Question 2

Tuberous Sclerosis

Answer 2

Major features include

facial angiofibromas
hypomelanotic macules
cortical tubers and subependymal nodules (frequent)
retinal hamartoma
LAM (lymphangioleiomyomatosis)
renal AML (angiomyolipoma)
cardiac rhabdomyomas (common)
shagreen patches, ungual fibroma and subependymal giant cell tumours (uncommon).

Minor features include
dental enamel pits and hamartomatous rectal polyps (frequent)
bone cysts, renal cysts, gingival fibromas and cerebral white matter radial migration lines (common);
and confetti skin lesions and retinal
achromatic patches (uncommon).

Definite diagnosis requires two major or one major and two minor criteria.

Question 3

Sturge weber

Answer 3

Question 4

NF - 1

Answer 4

Question 5

NF- 2

Answer 5

Question 6

Morquio

Answer 6

Morquio syndrome (MPS type IV)– Characterised by normal intelligence with multiple skeletal manifestation which manifest in infancy.

severe dwarfism (<4 foot)

Patients usually die in their 30-40s.

Anterior verteral beaking - middle third

Flared shape to the iliac crests (in contrast to achondroplasia where they are described as tombstone shaped)

Progressive narrowing of the interpedicular distance (similar to achondroplasia)

Atlantoaxial subluxation (often the cause of death)

Short and wide ribs - oar shaped

An increased AP thoracic diameter

Platyspondyly, loss of vertebral height, specially affecting lumbar vertebra by 2–3 years of age, is a typical feature of Morquio syndrome (cf. vertebral height is normal in Hurler’s syndrome).

Question 7

Klippel

Answer 7

**segmentation anomaly - Cervical fusion of two or more vertebral bodies. C2-3 **

Renal abnormalities (of which a third have unilateral renal agenesis) -

Scoliosis >20o -

Sprengel shoulder -

Deafness (sensorineural/conductive) -

Cervical ribs -

ASD/Coarctation

Question 8

Hurlers

Answer 8

Hurler syndrome (MPS type I)– is usually diagnosed in infancy with patients dying before the age of 10

Macrocephaly

Kyphosis +/- gibbus deformity

Small facial bones – gargoylism

Severe cardiac disease (often the cause of death)

Atlantoaxial subluxation

Posterior vertebral scalloping

Anterior vertebral beaking - inferior/lower third

Question 9

Hunters

Question 10

Hand-Schüller-Christian Disease

Answer 10

triad of destructive bony lesions, diabetes insipidus and exophthalmos is a type of histiocytosis

lungs are involved with cyst formation and spontaneous pneumothoraces possible.
Nodule formation, fibrosis and honeycombing are also seen

Question 11

Prune Belly Syndrome

Answer 11

This is a triad of:

1. Abdominal wall muscle deficiency
2. Distension of the distal ureters +/- hydronephrosis
3. Bilateral cryptorchidism

Question 12

Beckwith-Wiedemann syndrome

Answer 12

Exomphalos
Macroglossia
Gigantism

Question 13

Carney complex

Answer 13

Atrial myxoma
Facial / buccal pigmentation
Sertoli cell tumours of testes
Pituitary adenoma

Question 14

Carney Triad

Answer 14

Pulmonary chondromas
Extra-adrenal paraganglioma
GIST

Question 15

Wolmans disease

Answer 15

calcified enlarged adrenal glands

Primary familial xanthomatosis
lipid deposition in liver, spleen, lymph nodes, adrenal cortex and small bowel
-Hepatosplenomegaly.
-Enlarged retroperitoneal lymph nodes.
-diffuse fatty infiltration of the liver

poor prognosis - die by 6 months due to malabsorption

Question 16

Meckel - Gruber syndrome

Answer 16

Triad
- Bilateral enlarged kidneys
- Occipital encephalocele
- Polydactyly

Question 17

Gorlins syndrome

Answer 17

Nevoid basal cell carcinoma

Skin - BCC
Skeletal - jaw odontogenic keratocysts, bifid or fused ribs
**GU - Ovarian fibroma ** = low on T! and T2. Main cause for meigs syndrome
Caridac - cardiac fibroma
Neuro - Calcification of the falx

Question 18

Achondroplasia

Answer 18

Spinal stenosis from congenital short pedicles and reducing interpedicular distance

bullet-shaped vertebra/Anterior vertebral body beaking

trident hand

craniocervical stenosis from a small foramen magnum

posterior vertebral scalloping

Champagne glass pelvis - iliac blades are flattened,

Question 19

Turner syndrome

Answer 19

webbed neck and short stature.

Skeletal manifestations include **short fourth metacarpals **and Madelung’s deformity

coarctation of the aorta

Question 20

Erdheim-Chester disease

Answer 20

Triad of
1.osteosclerotic bone lesions =bilateral, symmetric metaphyseal and diaphyseal sclerosis

2. perirenal soft tissue = Hairy kidney sign
3. pleural &/or diffuse septal thickening = similar to Langerhans cell histiocytosis with predominantly cystic disease, septal thickening and preserved lung volume

Question 21

Marfans

Question 22

Homocystinuria

Answer 22

AR disorder

Lens dislocation is downwards and inwards

osteoporosis
bowing/fractures
pectus deformities
biconcave vertebra

Arachnodactyly (metacarpal index >8.4 or >9.4) = 1 in 3 people (cf. 100% Marfans)

propensity of thromboembolic phenomena due to increased stickiness of platelets. Death is often from occlusive vascular disease