Syndromes Flashcards
VHL
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.
Tuberous Sclerosis
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.
Sturge weber
NF - 1
NF- 2
Morquio
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).
Klippel
**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
Hurlers
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
Hunters
Hand-Schüller-Christian Disease
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
Prune Belly Syndrome
This is a triad of:
- Abdominal wall muscle deficiency
- Distension of the distal ureters +/- hydronephrosis
- Bilateral cryptorchidism
Beckwith-Wiedemann syndrome
Exomphalos
Macroglossia
Gigantism
Carney complex
Atrial myxoma
Facial / buccal pigmentation
Sertoli cell tumours of testes
Pituitary adenoma
Carney Triad
Pulmonary chondromas
Extra-adrenal paraganglioma
GIST
Wolmans disease
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
Meckel - Gruber syndrome
Triad
- Bilateral enlarged kidneys
- Occipital encephalocele
- Polydactyly
Gorlins syndrome
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
Achondroplasia
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,
Turner syndrome
webbed neck and short stature.
Skeletal manifestations include **short fourth metacarpals **and Madelung’s deformity
coarctation of the aorta
Erdheim-Chester disease
Triad of
1.osteosclerotic bone lesions =bilateral, symmetric metaphyseal and diaphyseal sclerosis
- perirenal soft tissue = Hairy kidney sign
- pleural &/or diffuse septal thickening = similar to Langerhans cell histiocytosis with predominantly cystic disease, septal thickening and preserved lung volume
Marfans
Homocystinuria
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
