Paediatrics Flashcards
2 year old female presents with stridor. Frontal radiograph of the airway shows symmetric subglottic narrowing and normal epiglottis.
What is the most likely diagnosis?
Croup (laryngotracheobronchitis)
Peak incidence 6 months-3 years. Self-limiting. Usually occurs following or during other symptoms of lower respiratory tract infections.
What is the most common soft tissue mass of the trachea?
Haemangioma
Others include papilloma and granuloma
Abdominal mass and haematuria in 1 month old baby?
Mesoblastic nephroma
What are the causes of leukocoria (white reflex)?
RETINOBLASTOMA
Persistent hyperplastic primary vitreous (PHPV)
Coat’s disease
Toxicaria endophthalimitis
What is the differential for cystic mass in the region of the kidney?
Not a cyst (hydronephrosis)
Cystic renal disease (MCDK, ARPKD)
Cystic mass (paediatric cystic nephroma)
Solid masses which can sometimes be cystic (Wilm’s, mesoblastic nephroma)
What is the differential for homogenous dark (on all images), big/bilateral kidney?
Nephroblastomatosis (most likely)
Lymphoma
Renal metastasis
What is the classical pattern of Alexander disease?
Frontal lobes
Subcortical white matter affected early
What is the common radiographic pattern of metachromatic leukodystrophy?
Perivascular sparing (tigroid pattern) and sparing of sub-cortical u-fibres
What is the classic appearance of adrenoleukodystrophy?
Symmetrical occipital/peritrigonal and splenium of corpus callosum
Peripheral contrast enhancement
What is the differential for a posterior fossa tumour in children?
Pilocytic astrocytoma
Medulloblastoma
Ependymoma
What are the common associations with coarctation of the aorta?
Bicuspid aortic valve (50%)
PDA (33%)
VSD (15%)
Turner syndrome (15%)
What structure is likely to be expanded by a juvenile angiofibroma?
Sphenopalatine foramen
Which artery supplies juvenile angiofibromas?
Internal maxillary artery
What is the congenital anomaly in which a single vessel supplies the pulmonary, systemic and coronary circulations?
Truncus arteriosus
Pulmonary circulation draining into right atrium, right-to-left shunt and “snowman” appearance refers to what congenital anomaly?
Total anomalous pulmonary venous return
What are the 4 features of tetralogy of Fallot?
Ventricular septal defect
Right ventricular outflow tract obstruction
Overriding aorta
Right ventricular hypertrophy
What are the causes of generalised increase in bone density in childhood?
Osteopetrosis
Pyknodysostosis
Craniodiaphyseal dysplasia
What features are associated with neurofibromatosis type II?
Multiple schwannomas, meningiomas and ependymomas
What are the 3 major findings in Prune Belly syndrome?
Anterior abdominal wall underdevelopment
Hydroureteronephrosis
Bilateral undescended testes (cryptorchidism)
Which renal malignancies are patients with horseshoe kidneys most likely to get?
Wilm’s
TCC
Renal carcinoid
What is unilateral renal agenesis associated with?
Unicornuate uterus and infertility
What are the common clinical features of Potter syndrome?
Pulmonary hypoplasia
Oligohydramnios
Twisted (wrinkly) skin
Twisted face (low-set ears, retrognathia, hypertelorism)
Extremity deformities (club hand/feet)
Renal agenesis, restricted growth
What is the Potter sequence caused by?
Constellation of findings as a consequence of severe, prolonged oligohydramnios in utero
In which conditions would you find renal angiomyolipomas?
*Tuberous sclerosis*
Von Hippel-Lindau syndrome
NFI
What is a Caroli’s associated with?
Medullary sponge kidney
Polycystic kidney disease
How do patients with Caroli disease/ syndrome present?
Recurrent cholelithiasis
Cholangitis, fever, jaundice
Portal hypertension (haematemesis and melaena secondary to varices)
What is the pulmonary appearances in Langerhan’s cell histiocytosis?
Bilateral symmetrical reticulonodular pattern in the mid/upper zones with sparing of costophrenic angles.
Progress to thin-walled cysts and honeycombing.
Lung volumes are preserved.
What are the findings in Sturge-Weber syndrome?
S : seizures
T : tram track gyriform calcification
U : unilateral weakness
R : retardation
G : glaucoma
F : facial haemangioma (CNV1)
P : pial angiomas
What does WAGR syndrome comprise of?
Wilm’s tumour
Aniridia
Genitourinary anomalies
Retardation
What are the features of von Hippel-Lindau disease?
H : haemangioblastoma (CNS)
I : increased risk of RCC, angiomyolipomas
P : phaeochromocytoma
P : pancreatic lesions (cyst/pNET/cystadenoma adenocarcinoma)
E : endolymphatic sac tumour, eye dysfunction (retinal haemangioma)
L : liver + renal cysts
What are the findings of tuberous sclerosis?
H : hamartomas
A : angiofibroma (facial)
M : mitral regurgitation
A : ash leaf spots
R : rhabdomyoma (cardiac)
T : tubers (cortical, subcortical)
O : autOsomal dominant
M : mental retardation
A : angiomyolipoma
S : seizures, Shagreen patches
What anomaly would give you indentation of posterior oesophagus (and a normal trachea)?
Aberrant right subclavian artery
or
Right aortic arch with aberrant left subclavian artery
What does VACTERL stand for?
V : vertebral anomalies (hemi vertebrae, scoliosis, spina bifida)
A : anorectal anomalies (anorectal atresia)
C : cardiac anomalies/ cleft lip
TE : tracheo-oesophageal fistula +/- oesophageal atresia
R : renal anomalies/radial ray anomalies
L : limb anomalies
Prolonged partial asphyxia will cause what pattern of hypoxic-ischaemic encephalopathy?
Periventricular leukomalacia
Acute profound asphyxia will result in what pattern of hypoxic ischaemic encephalopathy?
Deep grey matter, hippocampus and dorsal brain stem lesions.
Disease characterised by osteochondromas arising from the epiphyses
Dysplasia epiphysealis hemimelica
AKA Trevor disease
What are the imaging features of pulmonary stenosis?
Calcification of the pulmonary arterial wall
Dilatation (post stenotic) of the pulmonary trunk and left pulmonary artery
Gallbladder hydrops i.e. marked distension of the gallbladder due to obstruction of cystic duct is caused by what?
Impacted stone
Tumours/polyps
Kawasaki disease (children < 4)
Parasites (ascariasis)
What is the VQ scan pattern in pulmonary hypoplasia?
Matched marked reduction in ventilations and perfusion
What are the causes of increased pre-dental space in children?
( > 5mm)
Trauma
Down’s syndrome
Rheumatoid arthritis
NF
Osteogenesis imperfecta
Heterogenous testicular mass in 1 year old with elevated AFP. What is the likely diagnosis?
Yolk Sac Tumour
What are the ultrasound features of testicular torsion?
Absent of asymmetrically decrease flow
Asymmetric enlargement
Slight ↓ echogenicity of involved testicle
10 year old with acute scrotal pain with blue dot sign of exam. What is the likely diagnosis?
Torsion of testicular appendage
Opsomyoclonus (dancing eyes, dancing feet) is a paraneoplastic syndrome associated with what malignancy?
Neuroblastoma
How do you distinguish neuroblastoma from a Wilm’s tumour?
Neuroblastoma
outwith kidney
younger patients
calcifies
encases vessels
metastasis to bones
Wilm’s
within kidney
older (around age 4)
rarely calcifies
invades/pushes vessels
doesn’t usually metastasise to bones
Neuroblastoma stage 4S features?
Less than 1 year
Mets confined to skin, liver, bone marrow
Good prognosis
Which investigation is used to look for bone mets in neuroblastoma?
MIBG
What syndromes are associated with neuroblastoma?
Hirschsprungs
DiGeorge
Beckwith Wiedemann
NF1
What are the main findings in the overgrowth syndrome Beckwith-Weidemann?
Macroglossia
Wilm’s
Hepatoblastoma
Omphalocele
Hemihypertrophy
What is the Weigert-Meyer law?
Upper pole Obstructs + inserts Inferomedially
Lower pole Refluxes + inserts Normally
What features are included in the diagnostic criteria for NF1?
2 or more of the following:
SC: more than six cafe-au-late spots
O: optic nerve glioma, osseous lesions (sphenoid wing dysplasia)
R: 1st degree relative
N: neurofibroma (2 or more or single plexiform neurofibroma)
F: freckling (axillary/ inguinal)
L: lisch nodules (2 or more)
13 year old with liver mass and normal AFP. The mass appears solid on US and cystic on CT/MRI. What is the likely diagnosis?
Undifferentiated embryonal sarcoma
What are the 3 main differentials for a liver mass in children over 5 years of age?
HCC (AFP ↑)
Fibrolamellar HCC (AFP normal)
Undifferentiated embryonal sarcoma (AFP normal)
Describe the imaging findings of fibrolamellar HCC.
Heterogenous liver mass with fibrous central scar which is T2 hypointense
Gallium avid
Negative on sulfer colloid scan (unlike FNH)
Calcifies more often than conventional HCC
What syndromes are associated with hepatoblastoma?
Hemi-hypertrophy
Wilm’s
Beckwith-Weidemann
2 year old male with cystic liver mass with large feeding portal vein. AFP is negative. What is the likely diagnosis?
Mesenchymal hamartoma
18 month old with abdominal mass, raised AFP and pseudo-precocious puberty. What is the likely diagnosis?
Hepatoblastoma
What are the 3 most common liver tumours in children < 3 years old?
Hepatoblastoma
Haemangioendothelioma
Mesenchymal hamartoma
What are the differences between gastroschisis and omphalocele?
Gastroschisis
no membrane
right side
associated anomalies rare
Omphalocele
membrane
midline
anomalies common
What type of gastric volvulus is more common is children?
Mesenteroaxial
(organoaxial more common in old ladies)
What are the features of left isomerism?
Multiple splenules without parent spleen
Azygous or hemiazygous continuation of IVC
Bilateral bilobed lungs
Midline liver
Intestinal malrotation
What are the features of right isomerism?
Cyanotic congenital heart diseases
Absence of spleen
Bilateral trilobed lungs
Midline liver
Intestinal malrotation
What is the name for swallowing difficulty associated with aberrant right subclavian artery?
Dysphagia lusoria
What anomaly would give you indentation of anterior trachea and posterior oesophagus?
Double aortic arch
What anomaly would give you indentation of posterior trachea and anterior oesophagus?
Aberrant left pulmonary artery
(AKA pulmonary sling)
What other anomalies are an aberrant left pulmonary artery associated with?
Hypoplastic right lung
Complete tracheal rings
Imperforate anus
Intestinal malrotation
What is the most likely diagnosis for an extra-testicular mass in a child?
Embryonal rhabdomyosarcoma
Which anomaly would give you indentation of anterior trachea (and normal oesophagus)?
Innominate/ brachiocephalic artery compression
What are the acyanotic heart diseases which cause increased pulmonary arterial vascularity?
ASD
VSD
PDA
ECD
What congenital heart diseases are duct dependent?
Hypoplastic left heart syndrome
Severe coarctation
Interrupted arch
Pulmonary atresia
Severe Ebstein anomaly
Transposition of the great arteries (TGA) if no ventricular septal defects (VSD)
What are the normal measurements of the pyloris?
Pyloric muscle thickness (transverse) < 3mm
Length (longitudinal) < 15-17mm
What are the features suggestive of pyloric stenosis?
Target sign
Cervix sign
Antral nipple sign
Increased antral peristalsis
Delayed gastric emptying
What is the most common cause of right ventricular outflow tract obstruction in tetralogy of Fallot?
Infundibular stenosis
In order of frequency, what is the most common location of congenital lobar emphysema?
LUL, RML, RUL
What is Dandy Walker malformation?
Complete or partial agenesis of the vermis
Cystic dilation of the 4th ventricle
Enlarged posterior fossa with upward displacement of the lateral sinuses, tentorium and torcula
(torcular-lambdoid inversion)
Name the forms of holoprosencephaly from least to most severe.
Lobar, semi-lobar, alobar
What are the features of lobar holoproencephaly?
Right and left hemispheres separate (may have fused anterior/inferior frontal lobes)
Absent septum pellucidum
Pituitary problems common
What are the features of semi-lobar holoproencephaly?
Fused at the thalami
Posterior brain normal
Olfactory tracts and bulbs gone
What are the features of alobar holoproencephaly?
Single large ventricle
Fusion of thalami and basal ganglia
No falx or corpus callosum
If suspecting posterior urethral valves, what would be the most appropriate investigation?
Micturating cystourethrogram (MCUG)
What are the three categories of infantile hepatic haemangiomas?
Focal: if large shunt can have high output cardiac failure
Multifocal: may also have shunts, associated with multiple skin lesions
Diffuse: do not cause cardiac failure, can have associated hypothyroid
What are the imaging features of a hepatoblastoma, the most common primary liver tumour in children?
Well-defined and solid
Coarse calcification
Vascular with necrotic areas
What are the imaging features of a mesenchymal hamartoma, a rare liver lesion in children 1-2 years of age?
Single or multiple cystic lesion with solid elements within the cysts
“Swiss cheese” appearance
Haemorrhage and calcification are rare
(hydatid disease mimic this but occurs in older children)
What are the imaging features of hydatid disease of the liver?
Large well-defined cysts which often have small daughter cysts in the wall of the larger cyst
Can have calcification
“Water-lily” appearance
What are the three types of biliary atresia?
Type 1: atresia of the CBD (good prognosis)
Type 2: Atresia of the hepatic duct (good prognosis)
Type 3: Occlusion at the porta hepatis with atresia of the whole extrahepatic duct system (most common, poorest prognosis)
The triangular cord sign, absent or small gallbladder and a cyst at the porta-hepatis are features associated with what?
Biliary atresia
A patient has an ultrasound which is suspicious for biliary atresia. What is the most appropriate next investigation?
Hepatobiliary iminodiacetic acid (HIDA) scan
(in biliary atresia there will be no excretion into the bowel by 24 hours- this is not specific therefore if biliary atresia not ruled out a biopsy/ operative cholangiogram should follow)
Which medication is given prior to a HIDA scan in patients with suspected decreased hepatic function?
Phenobarbitol
The Casoni skin test is a hypersensitivity-based procedure to diagnose what?
Hydatid disease
3 month old baby with diffuse cortical thickening of the mandible with periosteal reaction, soft tissue swelling, bone lesions and irritability. What is the most likely diagnosis?
Caffey disease
Linear soft tissue defect in the trachea of an 8 year old with sudden onset stridor and fever. What is the most likely diagnosis?
Bacterial tracheitis
What are the accepted placements of an umbilical arterial catheter?
High position T6-10
Low position L3-5
Meconium ileus is seen in which condition?
Cystic fibrosis
Small left colon, also referred to as meconium plug syndrome is seen in which infants?
Infants of diabetic mothers who received tocolytics (magnesium sulphate) during pregnancy
Panner disease is osteochondrosis of which bone?
Capitellum
(seen in children < 12 years)
What is the differential for lucent metaphyseal bands?
Congenital infection
Anatomical variant
Metastatic neuroblastoma
Early systemic illness (rickets and scurvy)
Leukaemia and lymphoma
What is the differential for dense metaphyseal bands?
Poisoning (lead, mercury)
Rickets
Infection (TORCH), idiopathic hypercalcaemia
Neoplastic (treated leukaemia)
Congenital syphilis
Endocrine (congenital hypothyroidism)
Sickle cell, scurvy
Short hands/ feet (distal limbs) are referred to as what?
Acromelic
Short forearm or lower leg (middle limb) are referred to as what?
Mesomelic
Short femur or humerus (proximal limbs) are referred to as what?
Rhizomelic
Which dwarfism is characterised by “cloverleaf skull”, curved long bones with “telephone receiver” appearance of the femurs, platyspondyly, short ribs and micromelia?
Thanatophoric
(most common lethal skeletal dysplasia. Platyspondyly distinguishes this from other forms of dwarfism)
Which dwarfism is characterised by “cloverleaf skull”, curved long bones with “telephone receiver” appearance of the femurs, platyspondyly, short ribs and micromelia?
Thanatophoric
(most common lethal skeletal dysplasia. Platyspondyly distinguishes this from other forms of dwarfism)
Which dwarfism is characterised by “cloverleaf skull”, curved long bones with “telephone receiver” appearance of the femurs, platyspondyly, short ribs and micromelia?
Thanatophoric
(most common lethal skeletal dysplasia. Platyspondyly distinguishes this from other forms of dwarfism)
How can you differentiate between Hurlers and Hunters syndromes?
Hurlers has corneal clouding, Hunters does not
What is a normal alpha angle in regards to hip ultrasound?
>60 degrees
Haemangioendothelioma of the liver can be associated with which syndrome?
Kasabach-Merritt syndrome
