Practise vivas

Question 1

Prune belly

Answer 1

Abdominal distension from urinary obstruction causes hypoplasia of musculature
Cryptorchidism -bladder impedes descent
Dilated ureters - from urinary obstruction -either urethral atresia or bladder functionally not emptying

Potter sequence in utero

Question 2

VUR grading

Answer 2

1 ureter
2 pelvis
3 mild dilatation
4 tortuous ureter with moderate dilatation, blunted fornices
5 tortuous, severe dilatation, loss of fornices and papillary impressions

Question 3

Posterior urtethral valves

Answer 3

3 types, type 1 most common, type 2 no longer considered a valve
1 two mucosal folds down from verumonatum (embrylogic vagina, at level of entrance of ejaculatory ducts, has a raised bit of urothelium) fuse lower down
2 from ureteric orifice superiorly to verumonatum
3 abnormal canalisation of urogenital membrane - a circular diaphragm with central opening

Associated with Downs, craniospinal defects, bowel atresia

Question 4

Potter sequence

Answer 4

Pulmonary hypoplasia
IUGR
Abnormal facies
Limb abnormalities - club feet and contractures

Question 5

Vascular rings

Answer 5

Pulmonary sling / aberrant L PA - only one between oesophagus and trachea - anterior indentation on oesophagus.
Aberrant right subclavian most common, usually asymptomatic, not a complete ring
Double arch most common symptomatic ring
Right arch with aberrant left SC and left ligamentum arteriosum

Question 6

L TGA

Answer 6

Meso or levocardia
Abnormally straight vascular pedicle

VSD in 70-80%
Pulmonary stenosis in 40-50%
If have both above, may be cyanosed

Associated with situs inversus

Question 7

VHL

Answer 7

Chromosome 3
HIPPEL
Clear cell RCCs
Bilateral endolymphatic sac tumours
RCCs and cerebellar haemangioblastomas most common cause of death

Question 8

Grisel syndrome

Answer 8

Torticollis
Subluxation of atlantoaxial joint
Inflammatory ligamentous laxity, usually retropharyngeal abscess

Question 9

Fanconi anaemia

Answer 9

Commonest inherited marrow failure
AR
Associated with horseshoe kidney
Higher incidence in Ashkenazi Jews, Afrikaners
Increased incidence of AML
Radial ray anomalies, including absent thumb

Question 10

Radial ray anomaly

Answer 10

Partial to complete aplasia of radius +/- thumb
Many associations:
Fanconi anaemia
Trisomy 18
Holt Oram (congenital heart defects and upper limb anomalies - ASD, coarctation, radial ray, clavicle hypoplasia)

Question 11

Wormian bones

Answer 11

PORK CHOPS
Pyknodysostosis
OI
Ricket
Kinky Hair
Cleidocranial dysostosis
Hypothyroid
Otopalatodigital
Primary acroosteolysis (Hajdu Cheney(
Syndrome of Downs

Remember Downs, OI, cleidocranial.

Question 12

Klippel feil

Answer 12

Cervical vertebral fusion
Female prediliction
Short neck, low hairline, restricted neck motion
Associated with sprengel deformity (congenital scapula elevation, associated with omovertebral bar)

Question 13

Sprengels

Answer 13

Congenital scapula elevation
Omovertebral bar often present
May be fibrous, cartilaginous, or osseous
Associated with Klippel Feil, spina bifida, underdevelopment of clavicle and humerus

Question 14

Calcified discs

Answer 14

Ochronosis - nucleus pulposis
Transient
Juvenile chronic arthritis
Ank spond
Pseudogout
Haemochromatosis

Question 15

SUFE

Answer 15

Posteomedial displacement of femoral head/epiphysis

Question 16

Paediatric elbow fractures

Answer 16

Supracondylar
Lateral condyle (6-10)
Medial epicondyle (older children, adolescents)
Radial head dislocation (infancy, childhood)
Radial neck fracture (8-11)

Question 17

OI

Answer 17

Osteoporosis and fragile bones that fracture easily, blue sclera, dental fragility, hearing loss

Collagen type 1 production disorder
No sex or ethnic link
3 main types
1 - mild
2 - perinatal lethal
3 - progressive deforming

Wormian bones
Pseudoarthroses at fracture sites
Gracile bones
Basilar invagination
Otosclerosis
Associated with congenital cataracts

Question 18

Kartageners

Answer 18

Primary ciliary dyskinesia
Situs inversus, chronic sinusitis, bronchiectasis, infertility in males
No gender prediliction

Question 19

Meconium plug

Answer 19

Higher in maternal diabetes
Transient, functional bowel obstruction
Normal rectal size, unlike Hirschsprungs
Calibre change around splenic flexure

Question 20

Proximal and distal bowel obstruction differentials

Answer 20

.

Question 21

Hirschsprungs

Answer 21

Rectosigmoid ratio <1 (normal is >1)

Term neonates, especially boys (esp short segment disease)
75% present within first few weeks, 90% in first five years
Very small amount may present as adults
Full thickness rectal biopsy for diagnosis

Downs association (10%)
Also neuroblastoma

Question 22

Rickets

Answer 22

Rachitic rosary

Flayed, splayed metaphyses

Question 23

In utero bowel perforation / abdominal calcification / scrotal

Answer 23

Atresias
Ischaemia
Gastroschisis
Fetal volvulus
Meconium ileus
Maternal cocaine consumption a risk factor for in utero perforation

Liver calcs from infections in utero

Question 24

Duplex kidney

Answer 24

Upper pole has ectopic insertion (medial and inferior, often with a uretrocele)
Upper pole obstructs
Lower pole refluxes

Associated with fanconi anaemia (as is Horseshoe).

Question 25

Cephalohaematoma

Answer 25

Traumatic subperiosteal haematoma from birth injury Bound by suture lines Uni or bilateral Increased incidence with ventouse and forceps May become peripherally calcified Resolve spontaneously Cf caput succedaneum which is subcutaneous serosanguinous collection from birth trauma

Question 26

Right congential diaphragmatic hernia

Answer 26

13% Aneuploidy in up to 50% of hernias, either side Intrathoracic liver has poor prognosis DH associated with sequestrations

Question 27

Temperature probe on CXR

Answer 27

A midline device, in the oesophagus

Question 28

Ewing sarcoma involving sacrum

Answer 28

``` SPACE MONGREL (sacrum) Sarcoma(osteo/chondro)/SC teratoma Plasmacytoma ABC Chordoma Ependymoma Mets Osteomyelitis Neuroblastoma GCT Rectal Ewings (14% of Ewing is sacral) Lymhoma / leukaemia ```

Question 29

Horseshoe kidney associations

Answer 29

Stones, infection, PUJ obstruction Trauma susceptibility Wilms, TCC, carcinoid HTN Trisomy, Turners (20% of trisomy 18%) VACTERL

Question 30

Round pneumonia

Answer 30

Mean 5, 90% <12 Underdeveloped pores of Kohn and canals of Lambert in children, so infection cannot spread throughout lobe No specific bacteria. Strep pneumoniae most common. Most commonly superior segment of lower lobe, and solitary

Question 31

RDS

Answer 31

First few hours of life May be cyanosed Preterm, maternal diabetes Hazy opacity, often bilateral symmetrical, small lung volumes (may be large as ventilated) May be complicated by interstitial emphysema, other ventilation complications including subglottic stenosis, pulmonary haemorrhage, bronchopulmonary dysplasia / CLD CLD: oxygen toxicity and hypoxia Reticular markings and lucent areas in hyperexpanded lungs May have pulmonary HTN and cardiomegaly Mosaic attenuation and bronchial wall thickening on CT

Question 32

Kohlers

Answer 32

AVN of navicular

Question 33

ACL avulsion

Answer 33

Tibial eminence | More common in children

Question 34

IVH grading /germinal matrix haemorrhage

Answer 34

``` 1 - germinal matrix 2 - into non-dilated ventricles 3 - into dilated ventricles 4 - parenchymal extension 1 and 2 good prognosis, 4 poor ```

Question 35

UAC

Answer 35

Low position, L3-5 | High position, T6-10

Question 36

UVC

Answer 36

May cause intrahepatic haematoma if perforates a vessel wall. These may calcify. Thrombus can also calcify. Injecting hyperosmolar solutions into the portal vein contributes to fibrosis and thrombosis Should go umbilical vein, left portal vein, ductus venosus, left or middle hepatic vein, IVC, and sit at IVC-RA junction

Question 37

Coxa valga

Answer 37

Often associated with shallow acetabular angles and femoral head subluxation Bilateral, neuromuscular disorders e.g. cerebral palsy, or skeletal dysplasias e.g. Turners, MPS Unilateral from trauma with growth arrest VDRO = varus derotation osteotomy

Question 38

Shunts

Answer 38

ASD - right atrial, right ventricle enlargement VSD - left atrial, may have left and right ventricular PDA - left atrial and left ventricular

Question 39

Neuroblastoma v Wilms

Answer 39

Calcification common in neuro Neuro younger Neuro poorly marginated v wilms well circumscribed Neuro encases vasculature, Wilms invades IVC / renal vein Neuro extends into chest, elevates the aorta, and crosses midline behind aorta Neuroblastomas along sympathetic chain, differential also of ganglioneuroma and ganglioneuroblastoma

Question 40

Cloverleaf skull

Answer 40

``` Trilobate shape Severe craniosynostosis (multiple sutures at once) Thanotophoric dyplasia (type 2), severe Aperts or Crouzons ```

Question 41

Thanatophoric dysplasia

Answer 41

.

Question 42

Canavan disease

Answer 42

``` A leukodystrophy Death before 5, often before 18 months Ashkenazi Jews Autosomal recessive Acumulation of NAA CaNAAvan Megalencephaly Diffuse white matter disease Involves subcortical U fibres No enhancement ```

Question 43

Leukodystrophies

Answer 43

dysmyelinating diseases which affect children Lysome storage (MPS - Hurlers, Morquio, Neimann Pick, metachromatic leukodystrophy, Fabry disease) Mitochondrial dysfunction (MELAS, Leighs, other) Peroxisomal (Zellweger - cerebrohepatorenal syndrome, adrenoleukodystrophies - X-linked, involes splenium, and testes and adrenals) Amino acid metabolism - Canavan MLC, Alexander disease

Question 44

Metachromatic leukodystrophy

Answer 44

The most common leukodystrophy (dysmyelination) A lysosome storage disorder Reduced NAA, increased lactate Tigroid sparing of venules Subcortical U fibre sparing - butterfly pattern Autosomal recessive Infantile, juvenile and adult forms Motor, sensory, or psychiatric

Question 45

MLC

Answer 45

Megalenchephalic leukoencephalopathy (with subcortical cysts) Van der Knaap disease AR White matter cystic degeneration and megalencephagly T2 increased white matter with sparing of basal ganglia Subcortical cysts of CSF intensity anterotemporal and frontoparietal Antiepileptics to manage epilepsy Mild motor delay, mild mental deterioration

Question 46

Alexander disease

Answer 46

``` Fibrinoid leukodystrophy Sporadic Anterior dominant, extends posteriorly Basal ganglia become involved Normal NAA Fatal Infantil, juvenile, and adult forms. Enhancement may be seen ```

Question 47

Megalencephaly and white matter disease

Answer 47

MLC, Alexander, Canavan (Adrenoleukodystrophy and metachromic lyuekodystrophy both spare subcortical U fibres) Megalencephaly means large brain cf macrocephaly. In general associated with syndromes.

Question 48

18q dilation

Answer 48

.

Question 49

Luckneschadel

Answer 49

Craniolucunae, lacunar skull Associated with Chiari 2 - seen in 80% of such cases Pits of non-ossified fibrous bone in the inner table Differential of copper beaten skull - prominent gyral indentations in the skull in raised intracranial pressure - hydrocephalus, craniosynostosis, masses,

Question 50

Pyloric stenosis measurements

Answer 50

``` Pi 3.1415 Muscle thickness >3mm Transverse diameter >14mm Length >15mm ```

Question 51

Adrenoleukodystrophy

Answer 51

Lack of oxidation of very long chain fatty acids Accumulate in CNS myelin, adrenal cortex, leydig cells of testes X-linked Posterior predominant demyelination, involves splenium Usually symmetric Leading edge enhancement - associated with disease progression

Question 52

Ewing sarcoma

Answer 52

Slight male prediliction