Eponymous terms FRCR 2a

Baastrup disease

Kissing spinous processes

Askin tumour

Ewing sarcoma within chest wall

Asherman syndrome

Uterine adhesions. Dark T1 bands, filling defects on HSG. Miscarriage risk

Apert syndrome

Craniosynostosis, brachycephaly, midface hypoplasia, syndactylyl

Andersson lesion

Late stage AS. Discovertebral lesion involving entire endplate & disc

Alport syndrome

Collagen disorder causing nephritis (cortical calcs), deafness

Alexander disease

Leukoencephalopathy. Frontal lobe / subcortical involvement, large head, enhancement, vomiting

Albright hereditary osteodystrophy

Pseudo hypoPTH. Brachydactyly, short/round face, subcutaneous ossification

Alagille syndrome

Mimics biliary atresia. No intrahepatic ducts. Associated CHD / skeletal / face anomalies

Achondroplasia

Rhizomelia, big head, bullet vertebra, post vert scalloping, narrow interpedicular distance, tombstone pelvis, trident hands

Balkan nephropathy

Chronic nephritis in Balkan population. Atrophic kidneys with urothelial Ca risk

Bardet Biedel

Retinitis pigmentosa, polydactyl, obesity, renal anomalies

Beckwith Wiedemann

Childhood cancers (Wilms, hepatoblastoma, neuroblastoma, rhabdomyosarcoma). Macrosomia, macroglossia, omphalocele. 3 monthly US

Behcet’s disease

Ulcers (oral, genital, GI), uveitis, vasculitis. Pulmonary artery aneurysm. CNS (brainstem, white matter, CVST)

Bezold abscess

Mastoiditis causing deep neck abscess

Bickerstaff brainstem encephalitis

Acute brainstem encephalitis (T2 bright), ophthalmoplegia, ataxia. Anti GQ1b

Binswanger

Vascular dementia due to small vessel ischaemia / HTN

Birt Hogg Dube

Lung cysts, chromophobe RCC, oncocytoma, fibrofolliculomas on skin

Blount’s disease

Tibia vara - progressive posteromedial proximal tibia bowing, asymmetrical, black kids

Brown Sequard

Spinal trauma causing motor loss on one side, sensory loss on other

Buerger’s disease

Distal limb ischaemia in smokers. ‘Corkscrew’ collaterals

CADASIL

AD. Migraine, strokes, dementia

Caffey disease

Infant with fever/high CRP and swelling around mandible, clavicles, scapula, skull etc. Self-limiting

Canavan disease

Leukoencephalopathy in Ashkenazi Jew population. Diffuse WM, U-fibres, GP, thalami. Large head

Caplan syndrome

Pneumoconiosis occurring in RA causing cavitating apical nodules

Carney triad

Pulmonary chondroma, GIST, paraganglioma

Carney complex

LA myxoma, blue naevi, adrenocortical Ca, Sertoli testicular tumour

Caroli disease

Type V choledochal cyst. Central dot sign. Polycystic kidneys, medullary sponge kidneys

Castleman disease

Large mediastinal or mesenteric nodes

Chagas disease

South American parasite. Achalasia, cardiomegaly, megacolon

Charcot Marie Tooth

Peripheral muscle wasting & pes cavus due to peripheral nerve wasting

CHARGE syndrome

Coloboma, Heart, Atresia of chonae, Retardation, GU anomalies, Ears

Churg Strauss

EGPA. pANCA. Asthma, vasculitis, eosinophilia. Transient GG peripheral consolidation

Citelli abscess

Mastoiditis causing digastric muscle abscess

CLIPPERS

Steroid responsive brainstem inflammation. Classic pepper appearance of brainstem on contrast imaging

CMMRD

Cavernomas, DVAs, high grade glioma, leukaemia, lymphoma, colorectal Ca (around 7y)

Coats disease

Unilateral retinal telangiectasia around 5y boys. Mimics retinoblastoma - small globe but no calcs

Cobb angle

Used for scoliosis measurement - over 10 degrees

Cogan syndrome

Rare large vessel vasculitis in kids. Eyes / ears involved

Conn’s syndrome

Hyperaldosteronism - adrenal adenoma or hyperplasia

Cornelia De Lange syndrome

Hitch-hiker thumb, small middle phalanx little finger

Cowden syndrome

GI hamartomas, mucocutaneous lesions. Breast, thyroid, endometrial, renal Ca risk. Lhermitte Duclos tumours

Cronkhite Canada syndrome

Boys with GI hamartomas, brown skin, alopecia, nail atrophy

Crouzon syndrome

Premature fusion of sutures. Craniosynostosis, midface hypoplasia, proptosis

Currarino triad

Anorectal, sacrococcygeal defect, presacral mass

Cushing’s syndrome

Excess cortisol

Dandy Walker

Small vermis, large 4th ventricle, high position of cerebellar hemispheres, high torcula

De Garengeot hernia

Femoral hernia with appendix in

De Quervain tenosynovitis

Inflamed APL / EPB (1st extensor) tendons

De Quervain thyroiditis

URTI followed by painful thyroidits. Hyper then hypothyroidism

Devic syndrome

Other term for NMO

Di George syndrome

Absent thymus, absent PTH (low Ca), cardiac anomalies (TOF, interrupted arch, truncus arteriosus)

Doege Potter syndrome

Fibrous tumour of pleura producing insulin growth factor » hypoglycaemia

Drash syndrome

Increased Wilm’s risk, ambiguous genitalia

Down syndrome

T21. Hypotelorism, AA instability, short phalanges / 5th MC, delayed skeletal maturity, anterior VB scalloping, square VB, flat acetabulae

Dunbar syndrome

Median arcuate ligament syndrome » compresses coeliac artery. Pain on expiration

Dyke Davidoff Masson syndrome

In-utero stroke causing cerebral hemi-atrophy

Eagle syndrome

Elongated styloid process after tonsillectomy causing neurovascular irritation

Eagle Barrett syndrome

Prune belly syndrome. Boys, not genetic. Absent abdo muscles, crypto-orchidism, renal issues

Ebstein anomaly

Apically displaced tricuspid valve. Huge heart, massive RA, small RV. Cyanosis with reduced pulmonary flow

Edward’s syndrome

T18. Holoprosencephaly, CHD, horseshoe kidneys, small ribs/clavicles/sternum, clenched fists, overlapping fingers. Dead by 1y

Ehlers Danlos

Hypermobility syndrome (stretchy skin). Aortic aneurysms & fragility (avoid angiogram due to dissection risk)

Eisenmenger syndrome

Chronic left to right shunt causes pulmonary HTN. Shunt reverses, causing cyanosis

Ellis van Creveld syndrome

Rhizomelia dwarfism, polydactyly, thoracic dysplasia (short ribs), CHD

Engelmann syndrome

Bilateral cortical thickening & sclerosis in diaphysis in kids

Erdheim Chester syndrome

Osteosclerosis, orbital/dural inflammation, diabetes insipidus, hairy kidneys (similar to LCH)

Fabry disease

Mimic of HOCM. X-linked. Low T1 cardiac MRI

Fahr disease

Calcium deposition in basal ganglia & thalami

Fairbank disease

Epiphyseal dysplasia causing short limbs in teens

Fanconi anaemia

Kids with bone marrow failure. Hypoplastic thumb / radius, CHD, renal anomalies

FAP

Thousands of GI polyps, 100% cancer risk

Felty syndrome

RA, neutropenia, splenomegaly

Fitz Hugh Curtis disease

Pelvic inflammatory disease followed by RUQ pain. Enhancing liver capsule & adhesions

Foix Alajouanine

Syndrome caused by spinal dural AVF causing myelopathy. Long segment cord oedema & flow voids

Forestier disease

Alternative term for DISH

Friedreich’s ataxia

Kids, AR, associated with HOCM & scoliosis. Cervical cord atrophy. Cerebellum involved in late stages

Gardner syndrome

FAP with skull osteomas & desmoid tumours

Gaucher disease

AR lysosomal storage disorder. Hepatosplenomegaly, marrow infiltration, AVN of hip, obliterated sinuses, Erlenmeyer flask

Genant method

Used for calculating VB height loss in osteoporosis

Goodpasture disease

Alveolar haemorrhage (patchy GG consolidation) & rapid glomerulonephritis. Anti-GBM antibodies

Gorlin syndrome

Odontogenic keratocysts, BCCs, calcified falx, bifid ribs, cardiac fibroma. Risk of medulloblastoma increased

Gradenigo syndrome

Otitis media spreads to petrous apex & causes CN6 palsy

Grisel syndrome

AA subluxation due to H&N surgery or URTI

Guillian Barre syndrome

Ascending polyneuropathy following GI infection. Enhancing CE & nerve roots

Hajdu Cheney syndrome

AD skeletal dysplasia (face changes), open sutures / Wormian bones, acro-osteolysis

Hallervorden Spatz (PKAN)

Iron accumulation in brain causing dystonia / Parkinson’s symptoms in kids. Globus pallidus (eye-of-tiger, low T2 with central high T2)

Hampton’s line

Barium meal finding - occurs at base of benign gastric ulcer

Hand Schuller Christian

Under umbrella of LCH - severe form in kids affecting multiple systems

Hashimoto thyroidits

Most common hypothyroid. TPO antibodies. Goitre

Heerfordt syndrome

Sarcoid presenting with parotitis, uveitis & facial nerve palsy

Henoch Schonlein purpura

Pupura, abdo pain, renal impairment, arthralgia. Bowel thickening, target sign, intussusception

Heyde syndrome

Angiodysplasia associated with aortic stenosis

Hirschsprung disease

Short segment of bowel aganglionosis. Bowel obstruction in newborn

Holt Oram syndrome

Atrial septal defect, hand-thumb issues

Horner syndrome

Sympathetic disruption - ptosis, anhidrosis, miosis

Hughes Stovin syndrome

Thrombophlebitis with pulmonary artery aneurysm - similar to Behcet

Hunter syndrome

Form of MPS with inferior VB beaking & no corneal clouding (Hunter needs to see)

Hurler syndrome

Form of MPS with inferior VB beaking & corneal clouding

Huntington disease

Chorea, AD. Caudate atrophy / high T2, putamen high T2, large frontal horns

Hurst disease

Fulminant form of ADEM causing death