Paediatrics Flashcards

1
Q

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?

A

Croup (laryngotracheobronchitis)

Peak incidence 6 months-3 years. Self-limiting. Usually occurs following or during other symptoms of lower respiratory tract infections.

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2
Q

What is the most common soft tissue mass of the trachea?

A

Haemangioma

Others include papilloma and granuloma

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3
Q

Abdominal mass and haematuria in 1 month old baby?

A

Mesoblastic nephroma

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4
Q

What are the causes of leukocoria (white reflex)?

A

RETINOBLASTOMA

Persistent hyperplastic primary vitreous (PHPV)

Coat’s disease

Toxicaria endophthalimitis

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5
Q

What is the differential for cystic mass in the region of the kidney?

A

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)

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6
Q

What is the differential for homogenous dark (on all images), big/bilateral kidney?

A

Nephroblastomatosis (most likely)

Lymphoma

Renal metastasis

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7
Q

What is the classical pattern of Alexander disease?

A

Frontal lobes

Subcortical white matter affected early

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8
Q

What is the common radiographic pattern of metachromatic leukodystrophy?

A

Perivascular sparing (tigroid pattern) and sparing of sub-cortical u-fibres

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9
Q

What is the classic appearance of adrenoleukodystrophy?

A

Symmetrical occipital/peritrigonal and splenium of corpus callosum

Peripheral contrast enhancement

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10
Q

What is the differential for a posterior fossa tumour in children?

A

Pilocytic astrocytoma

Medulloblastoma

Ependymoma

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11
Q

What are the common associations with coarctation of the aorta?

A

Bicuspid aortic valve (50%)

PDA (33%)

VSD (15%)

Turner syndrome (15%)

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12
Q

What structure is likely to be expanded by a juvenile angiofibroma?

A

Sphenopalatine foramen

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13
Q

Which artery supplies juvenile angiofibromas?

A

Internal maxillary artery

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14
Q

What is the congenital anomaly in which a single vessel supplies the pulmonary, systemic and coronary circulations?

A

Truncus arteriosus

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15
Q

Pulmonary circulation draining into right atrium, right-to-left shunt and “snowman” appearance refers to what congenital anomaly?

A

Total anomalous pulmonary venous return

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16
Q

What are the 4 features of tetralogy of Fallot?

A

Ventricular septal defect

Right ventricular outflow tract obstruction

Overriding aorta

Right ventricular hypertrophy

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17
Q

What are the causes of generalised increase in bone density in childhood?

A

Osteopetrosis

Pyknodysostosis

Craniodiaphyseal dysplasia

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18
Q

What features are associated with neurofibromatosis type II?

A

Multiple schwannomas, meningiomas and ependymomas

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19
Q

What are the 3 major findings in Prune Belly syndrome?

A

Anterior abdominal wall underdevelopment

Hydroureteronephrosis

Bilateral undescended testes (cryptorchidism)

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20
Q

Which renal malignancies are patients with horseshoe kidneys most likely to get?

A

Wilm’s

TCC

Renal carcinoid

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21
Q

What is unilateral renal agenesis associated with?

A

Unicornuate uterus and infertility

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22
Q

What are the common clinical features of Potter syndrome?

A

Pulmonary hypoplasia

Oligohydramnios

Twisted (wrinkly) skin

Twisted face (low-set ears, retrognathia, hypertelorism)

Extremity deformities (club hand/feet)

Renal agenesis, restricted growth

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23
Q

What is the Potter sequence caused by?

A

Constellation of findings as a consequence of severe, prolonged oligohydramnios in utero

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24
Q

In which conditions would you find renal angiomyolipomas?

A

*Tuberous sclerosis*

Von Hippel-Lindau syndrome

NFI

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25
Q

What is a Caroli’s associated with?

A

Medullary sponge kidney

Polycystic kidney disease

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26
Q

How do patients with Caroli disease/ syndrome present?

A

Recurrent cholelithiasis

Cholangitis, fever, jaundice

Portal hypertension (haematemesis and melaena secondary to varices)

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27
Q

What is the pulmonary appearances in Langerhan’s cell histiocytosis?

A

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.

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28
Q

What are the findings in Sturge-Weber syndrome?

A

S : seizures

T : tram track gyriform calcification

U : unilateral weakness

R : retardation

G : glaucoma

F : facial haemangioma (CNV1)

P : pial angiomas

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29
Q

What does WAGR syndrome comprise of?

A

Wilm’s tumour

Aniridia

Genitourinary anomalies

Retardation

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30
Q

What are the features of von Hippel-Lindau disease?

A

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

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31
Q

What are the findings of tuberous sclerosis?

A

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

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32
Q

What anomaly would give you indentation of posterior oesophagus (and a normal trachea)?

A

Aberrant right subclavian artery

or

Right aortic arch with aberrant left subclavian artery

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33
Q

What does VACTERL stand for?

A

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

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34
Q

Prolonged partial asphyxia will cause what pattern of hypoxic-ischaemic encephalopathy?

A

Periventricular leukomalacia

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35
Q

Acute profound asphyxia will result in what pattern of hypoxic ischaemic encephalopathy?

A

Deep grey matter, hippocampus and dorsal brain stem lesions.

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36
Q

Disease characterised by osteochondromas arising from the epiphyses

A

Dysplasia epiphysealis hemimelica

AKA Trevor disease

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37
Q

What are the imaging features of pulmonary stenosis?

A

Calcification of the pulmonary arterial wall

Dilatation (post stenotic) of the pulmonary trunk and left pulmonary artery

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38
Q

Gallbladder hydrops i.e. marked distension of the gallbladder due to obstruction of cystic duct is caused by what?

A

Impacted stone

Tumours/polyps

Kawasaki disease (children < 4)

Parasites (ascariasis)

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39
Q

What is the VQ scan pattern in pulmonary hypoplasia?

A

Matched marked reduction in ventilations and perfusion

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40
Q

What are the causes of increased pre-dental space in children?

( > 5mm)

A

Trauma

Down’s syndrome

Rheumatoid arthritis

NF

Osteogenesis imperfecta

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41
Q

Heterogenous testicular mass in 1 year old with elevated AFP. What is the likely diagnosis?

A

Yolk Sac Tumour

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42
Q

What are the ultrasound features of testicular torsion?

A

Absent of asymmetrically decrease flow

Asymmetric enlargement

Slight ↓ echogenicity of involved testicle

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43
Q

10 year old with acute scrotal pain with blue dot sign of exam. What is the likely diagnosis?

A

Torsion of testicular appendage

44
Q

Opsomyoclonus (dancing eyes, dancing feet) is a paraneoplastic syndrome associated with what malignancy?

A

Neuroblastoma

45
Q

How do you distinguish neuroblastoma from a Wilm’s tumour?

A

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

46
Q

Neuroblastoma stage 4S features?

A

Less than 1 year

Mets confined to skin, liver, bone marrow

Good prognosis

47
Q

Which investigation is used to look for bone mets in neuroblastoma?

A

MIBG

48
Q

What syndromes are associated with neuroblastoma?

A

Hirschsprungs

DiGeorge

Beckwith Wiedemann

NF1

49
Q

What are the main findings in the overgrowth syndrome Beckwith-Weidemann?

A

Macroglossia

Wilm’s

Hepatoblastoma

Omphalocele

Hemihypertrophy

50
Q

What is the Weigert-Meyer law?

A

Upper pole Obstructs + inserts Inferomedially

Lower pole Refluxes + inserts Normally

51
Q

What features are included in the diagnostic criteria for NF1?

A

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)

52
Q

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?

A

Undifferentiated embryonal sarcoma

53
Q

What are the 3 main differentials for a liver mass in children over 5 years of age?

A

HCC (AFP ↑)

Fibrolamellar HCC (AFP normal)

Undifferentiated embryonal sarcoma (AFP normal)

54
Q

Describe the imaging findings of fibrolamellar HCC.

A

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

55
Q

What syndromes are associated with hepatoblastoma?

A

Hemi-hypertrophy

Wilm’s

Beckwith-Weidemann

56
Q

2 year old male with cystic liver mass with large feeding portal vein. AFP is negative. What is the likely diagnosis?

A

Mesenchymal hamartoma

57
Q

18 month old with abdominal mass, raised AFP and pseudo-precocious puberty. What is the likely diagnosis?

A

Hepatoblastoma

58
Q

What are the 3 most common liver tumours in children < 3 years old?

A

Hepatoblastoma

Haemangioendothelioma

Mesenchymal hamartoma

59
Q

What are the differences between gastroschisis and omphalocele?

A

Gastroschisis

no membrane

right side

associated anomalies rare

Omphalocele

membrane

midline

anomalies common

60
Q

What type of gastric volvulus is more common is children?

A

Mesenteroaxial

(organoaxial more common in old ladies)

61
Q

What are the features of left isomerism?

A

Multiple splenules without parent spleen

Azygous or hemiazygous continuation of IVC

Bilateral bilobed lungs

Midline liver

Intestinal malrotation

62
Q

What are the features of right isomerism?

A

Cyanotic congenital heart diseases

Absence of spleen

Bilateral trilobed lungs

Midline liver

Intestinal malrotation

63
Q

What is the name for swallowing difficulty associated with aberrant right subclavian artery?

A

Dysphagia lusoria

64
Q

What anomaly would give you indentation of anterior trachea and posterior oesophagus?

A

Double aortic arch

65
Q

What anomaly would give you indentation of posterior trachea and anterior oesophagus?

A

Aberrant left pulmonary artery

(AKA pulmonary sling)

66
Q

What other anomalies are an aberrant left pulmonary artery associated with?

A

Hypoplastic right lung

Complete tracheal rings

Imperforate anus

Intestinal malrotation

67
Q

What is the most likely diagnosis for an extra-testicular mass in a child?

A

Embryonal rhabdomyosarcoma

68
Q

Which anomaly would give you indentation of anterior trachea (and normal oesophagus)?

A

Innominate/ brachiocephalic artery compression

69
Q

What are the acyanotic heart diseases which cause increased pulmonary arterial vascularity?

A

ASD

VSD

PDA

ECD

70
Q

What congenital heart diseases are duct dependent?

A

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)

71
Q

What are the normal measurements of the pyloris?

A

Pyloric muscle thickness (transverse) < 3mm

Length (longitudinal) < 15-17mm

72
Q

What are the features suggestive of pyloric stenosis?

A

Target sign

Cervix sign

Antral nipple sign

Increased antral peristalsis

Delayed gastric emptying

73
Q

What is the most common cause of right ventricular outflow tract obstruction in tetralogy of Fallot?

A

Infundibular stenosis

74
Q

In order of frequency, what is the most common location of congenital lobar emphysema?

A

LUL, RML, RUL

75
Q

What is Dandy Walker malformation?

A

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)

76
Q

Name the forms of holoprosencephaly from least to most severe.

A

Lobar, semi-lobar, alobar

77
Q

What are the features of lobar holoproencephaly?

A

Right and left hemispheres separate (may have fused anterior/inferior frontal lobes)

Absent septum pellucidum

Pituitary problems common

78
Q

What are the features of semi-lobar holoproencephaly?

A

Fused at the thalami

Posterior brain normal

Olfactory tracts and bulbs gone

79
Q

What are the features of alobar holoproencephaly?

A

Single large ventricle

Fusion of thalami and basal ganglia

No falx or corpus callosum

80
Q

If suspecting posterior urethral valves, what would be the most appropriate investigation?

A

Micturating cystourethrogram (MCUG)

81
Q

What are the three categories of infantile hepatic haemangiomas?

A

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

82
Q

What are the imaging features of a hepatoblastoma, the most common primary liver tumour in children?

A

Well-defined and solid

Coarse calcification

Vascular with necrotic areas

83
Q

What are the imaging features of a mesenchymal hamartoma, a rare liver lesion in children 1-2 years of age?

A

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)

84
Q

What are the imaging features of hydatid disease of the liver?

A

Large well-defined cysts which often have small daughter cysts in the wall of the larger cyst

Can have calcification

“Water-lily” appearance

85
Q

What are the three types of biliary atresia?

A

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)

86
Q

The triangular cord sign, absent or small gallbladder and a cyst at the porta-hepatis are features associated with what?

A

Biliary atresia

87
Q

A patient has an ultrasound which is suspicious for biliary atresia. What is the most appropriate next investigation?

A

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)

88
Q

Which medication is given prior to a HIDA scan in patients with suspected decreased hepatic function?

A

Phenobarbitol

89
Q

The Casoni skin test is a hypersensitivity-based procedure to diagnose what?

A

Hydatid disease

90
Q

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?

A

Caffey disease

91
Q

Linear soft tissue defect in the trachea of an 8 year old with sudden onset stridor and fever. What is the most likely diagnosis?

A

Bacterial tracheitis

92
Q

What are the accepted placements of an umbilical arterial catheter?

A

High position T6-10

Low position L3-5

93
Q

Meconium ileus is seen in which condition?

A

Cystic fibrosis

94
Q

Small left colon, also referred to as meconium plug syndrome is seen in which infants?

A

Infants of diabetic mothers who received tocolytics (magnesium sulphate) during pregnancy

95
Q

Panner disease is osteochondrosis of which bone?

A

Capitellum

(seen in children < 12 years)

96
Q

What is the differential for lucent metaphyseal bands?

A

Congenital infection

Anatomical variant

Metastatic neuroblastoma

Early systemic illness (rickets and scurvy)

Leukaemia and lymphoma

97
Q

What is the differential for dense metaphyseal bands?

A

Poisoning (lead, mercury)

Rickets

Infection (TORCH), idiopathic hypercalcaemia

Neoplastic (treated leukaemia)

Congenital syphilis

Endocrine (congenital hypothyroidism)

Sickle cell, scurvy

98
Q

Short hands/ feet (distal limbs) are referred to as what?

A

Acromelic

99
Q

Short forearm or lower leg (middle limb) are referred to as what?

A

Mesomelic

100
Q

Short femur or humerus (proximal limbs) are referred to as what?

A

Rhizomelic

101
Q

Which dwarfism is characterised by “cloverleaf skull”, curved long bones with “telephone receiver” appearance of the femurs, platyspondyly, short ribs and micromelia?

A

Thanatophoric

(most common lethal skeletal dysplasia. Platyspondyly distinguishes this from other forms of dwarfism)

101
Q

Which dwarfism is characterised by “cloverleaf skull”, curved long bones with “telephone receiver” appearance of the femurs, platyspondyly, short ribs and micromelia?

A

Thanatophoric

(most common lethal skeletal dysplasia. Platyspondyly distinguishes this from other forms of dwarfism)

102
Q

Which dwarfism is characterised by “cloverleaf skull”, curved long bones with “telephone receiver” appearance of the femurs, platyspondyly, short ribs and micromelia?

A

Thanatophoric

(most common lethal skeletal dysplasia. Platyspondyly distinguishes this from other forms of dwarfism)

103
Q

How can you differentiate between Hurlers and Hunters syndromes?

A

Hurlers has corneal clouding, Hunters does not

104
Q

What is a normal alpha angle in regards to hip ultrasound?

A

>60 degrees

105
Q

Haemangioendothelioma of the liver can be associated with which syndrome?

A

Kasabach-Merritt syndrome