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Radiology > Genetics and Paediatric Imaging > Flashcards

Genetics and Paediatric Imaging Flashcards

1
Q

Inheritance pattern of Marfan’s syndrome?

A

85% autosomal dominant and rest sporadic

Defect in fibrillin type 1

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2
Q

Name 2 cardiovascular manifestations of Marfan’s

A

Aortic root dilatation and dissection

Valvular heart disease: MV prolapse, AV and PV insufficiency

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3
Q

Name 4 skeletal manifestations of MD

A

Long, slender limbs with arachnodactyly

Pectus carinatum/ excavatum

Ligamentous laxity in hands and feet/ pes planus

Protrusio acetabuli

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4
Q

Name 2 spinal manifestations of MD

A

Dural ectasia (L3 to S1). May have meningocele

Kyphoscoliosis

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5
Q

Name 3 head manifestations of MD

A

Dolichocephaly and frontal bossing

Ectopia lentis

Glaucoma and blue sclera

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6
Q

Name 1 respiratory manifestation of MD

A

Apical blebs- pneumothorax

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7
Q

What is the pathophysiology and genetics of Gaucher disease?

A

Autosomal recessive disorder of lipid metabolism

Affects Jews of European descent

Accumulation of abnormal glucocerebrosides in RES (liver, lymph nodes, spleen and bone marrow)

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8
Q

Name the 3 types of Gaucher disease.

A

Type 1 (99%): adult- skeletal and splenic with sparing of CNS

Type 2 (less than 1%): infantile with acute cerebral pattern

Type 3 (less than 1%): juvenile with systemic involvement

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9
Q

Name 4 non-CNS manifestations of GD

A

Liver: hepatomegaly

Spleen: gross splenomegaly with mottled appearance

Lymphadenopathy

Bone marrow: bony erosions, AVN and medullary infarcts

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10
Q

Name 2 CNS manifestations of GD

A

Dilated VR spaces containing gaucher cells

Progressive neuronal destruction

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11
Q

Irregular epiphyses in a child- what should you consider?

A

Could be a NORMAL anatomical variant

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12
Q

What is the incidence of Down syndrome? Genetics?

A

1: 700

95% have an extra chromosome 21 (majority from mother)

Rest Robertsonian translocation and 1% mosaic

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13
Q

4 top abnormalities or long-term complications of DS

A

CVS: AVSD, ASD and VSD

GIT: duodenal atresia, oesophageal atresia

Leukaemia: 10X more likely (ALL and AML)

Early onset Alzheimer disease

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14
Q

Name 3 physical features of Turner syndrome (45XO)

A

Short stature

Webbed neck

Broad chest with widely spaced nipples

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15
Q

Name 1 cardiac and 1 renal complication of Turner

A

Cardiac: pre-ductal coarctation

Renal: horse-shoe kidney

Note: NORMAL intelligence

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16
Q

Name 2 endocrine dysfunctions associated with Turner

A

Atrophic ovaries and amenorrhoea (single most important cause of primary amenorrhoea)

Hashimoto thyroiditis due to thyroid auto-antibodies

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17
Q

When do patients with Turner get growth arrest?

A

Normal skeletal maturation with growth arrest at 15 years (premature osteoporosis after 1st decade)

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18
Q

Name 3 MSK features of Turner syndrome

A

Basilar invagination and hypoplasia of dens/ C1

Shortening of 4th MC

Madelung deformity

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19
Q

Apart from pulmonary hypoplasia, name 3 other associations of CDH

A

Aneuploidy

Congenital cardiac anomalies

NTD

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20
Q

Common cardiac anomaly associated with tetralogy of Fallot?

A

Right sided aortic arch in 25%

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21
Q

Infantile haemangioendothelioma- typical age and Rx?

A

Typically neonates and less than 6 months

Substantial AV shunting and cardiovascular compromise (needs steroids if high-output cardiac failure)

Regresses after 6 months (NO Rx required)

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22
Q

Name 1 CNS congenital abnormality associated with mutations of the SHH gene

A

Holoprosencephaly

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23
Q

Name 1 renal condition associated with Turner syndrome?

A

Horseshoe kidney

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24
Q

Venous malformation vs infantile haemangioma?

A

VM: present at birth. low, monophasic flow and grow with child

IH: inconspicuous at birth and grow rapidly during 1st few months, stabilise at 9-10 months. Complete involution by 7-10 years

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25
Q

Spondyloepiphyseal dysplasia

A

Congenital abnormality of spine and epiphyses

DELAYED ossification of capital femoral epiphyses

Atlantoaxial instability due to hypoplasia of dens

Scoliosis and coxa vara/ genu valgum

Hands and feet relatively normal in length (multiple ossification)

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26
Q

NOT associated with NEC?

A

Breech presentation

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27
Q

Name 5 MSK manifestations of Down syndrome in kids

A

11 ribs

Flared iliac wings and horizontal acetabular roof

Hypersegmentation of manubrium

Persistent metopic suture

Atlantoaxial subluxation

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28
Q

Most common renal tumour in neonates?

A

Mesoblastic nephroma

29
Q

MCDK: inheritable and whether both sides?

A

NON-inheritable

Usually unilateral

Contralateral kidney has abnormalities in 50%: reflux, PUJ/ VUJ obstruction or ureterocele

30
Q

Ependymoma in kids- how many malignant and haemorrhagic?

A

15% malignant

10% haemorrhagic

31
Q

What is metacarpal index used for?

A

MI: sum of length of 2-5 MC/ sum of width

Used for Marfan’s and NOT bone age.

MI of more than 8-9 suggests Marfan

32
Q

Most common sites for rhabdomyosarcoma in kids?

A

Head and neck (30%)

Extremities (25%)

Genitourinary tract (20%)

33
Q

Adrenocortical carcinoma in kids vs adults

A

60% are secretory

Virilisation or precocious puberty in kids

Cushings in adults

34
Q

Hepatoblastoma under US?

A

Hypervascular and heterogeneous echogenicity

35
Q

What is Mondini malformation?

A

Absence of apical 1.5 turns of cochlea (in utero insult at 7 weeks)

Basilar turn PRESERVED

36
Q

MAG 3 vs DTPA

A

DTPA undergoes only glomerular filtration (100%)- best for measuring GFR

MAG 3 actively excreted: high extraction rate

37
Q

PVL vs germinal matrix haemorrhage

A

PVL: periventricular hypoxic-ischaemic injury

GMH: focal haemorrhagic infarction (usually venous)

In PVL calcification is seen on US earlier than CT

38
Q

MB in adults vs kids

A

Adults more likely to get desmoplastic variant

Prone to recurrence

39
Q

What is Potter syndrome?

A

Features secondary to prolonged oligohydramnios

Lung hypoplasia

Potter’s facies: flat nose, recessed chin, brachycephaly

Limb deformities

40
Q

What is small left colon syndrome?

A

Immaturity of the mesenteric plexus

Collapsed bowel distal to splenic flexure

Associated with maternal diabetes and substance abuse

NOT associated with CF

41
Q

Name 2 typical features of alobar holoprosencephaly

A

Large monoventricle

Fused thalami

42
Q

Name 3 other associated features of alobar holoprosencephaly

A

Absence of CC

Associated with Neu Laxova syndrome (AR rare syndrome- microcephaly)

Proboscis above orbits with cyclopia (single orbit)

43
Q

What is Wimberger sign associated with?

A

Bilateral destruction of medial proximal tibia

Pathognomonic for congenital syphilis

44
Q

What is mutation of the FGFR3 gene associated with?

A

FGFR3 is a negative regulator of bone growth

Mutation causes achondroplasia

45
Q

Most common in-utero infection?

A

CMV

Usually affects baby in 2nd trimester as opposed to other TORCH infection

46
Q

Large intra-nuclear inclusions in baby’s blood- what infection is that?

A

Parvovirus B19

47
Q

Name 2 complication of XRT for Wilms tumour in a child?

A

Scoliosis (radiation induced growth disturbance- scoliosis convex to the contralateral side)

Post-radiation sarcoma: MFH

48
Q

Most common non-lethal skeletal dysplasia?

A

Achondroplasia (autosomal dominant)

49
Q

Name 4 features of achondroplasia

A

Narrow greater sciatic notch

Narrow foramen magnum

Decreased acetabular angles

Short pedicles and reduced inter-pedicular distance

50
Q

16F with Friedreich ataxia has poor quality MRI. Most likely cause?

A

Orthopnoea (arrhythmias and CCF)

Ataxia, heart disease and diabetes

51
Q

Late onset CF: presentation?

A

Idiopathic chronic pancreatitis

52
Q

Child with paravertebral mass: biopsy shows mature neural elements and Schwann cells not attached to nerve. Dx?

A

Ganglioneuroma

53
Q

Risk of PBC in a child if mother has it?

A

20%

54
Q

Staging of neuroblastoma

A

Stage 1: localised tumour

Stage 2: ipsilateral node positive

Stage 3: spreads across midline or contralateral node positive

Stage 4: distant mets

Stage 4S: dissemination to skin/ liver/ bone but age less than 12 mths

55
Q

What oncogene has the most profound impact on neuroblastoma prognosis?

A

Amplification of N-MYC oncogene

56
Q

What feature suggests chemotherapy resistance in Wilms?

A

Anaplasia (cells with large, hyperchromatic nuclei and abnormal mitoses)

57
Q

Fusions, subluxations and pannus in cervical spine of a child?

A

JIA

Generally RF negative

58
Q

Hirschprung disease and prematurity.

A

Extremely rare in premature babies

59
Q

No frontal bossing

A

Hurler syndrome (macrocephaly and J-shaped sella)

60
Q

Most and least common sarcoma of extremities?

A

Most common: synovial sarcoma

Least common: angiosarcoma

61
Q

Not associated with Wilms

A

Hutchison syndrome: skeletal mets from neuroblastoma

62
Q

MCDK vs massive hydronephrosis on MAG-3

A

Both have large cysts on US

MCDK has NO uptake

PUJ obstruction will show uptake but no excretion

63
Q

MCDK: which side and male vs female?

A

More common on left side

More common in boys

64
Q

Rhabdomyosarcoma of urinary tract in kids- most common site and Px?

A

Prostate most common site in boys

Peak age 2-5 years. Worst Px if 1st year of life

65
Q

Multilocular cystic nephroma vs MCDK?

A

MCN does not involve the entire kidney!

66
Q

Omental infarction- location and US appearance?

A

RLQ anterior to ascending or transverse colon

Hyperechoic mass on US

67
Q

Multiple, small solid homogeneous masses around kidneys in a young child?

A

Nephroblastomatosis

3 monthly US until age 7 to exclude Wilms

Rare after 7 years

68
Q

HSP?

A

Non-thrombocytopaenic small vessel vasculitis

IgA immune complex deposition

Purpura, GI bleeding and intussusception

Radiology (16 decks)

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