Genetics and Paediatric Imaging Flashcards by Raj Sohawon

Inheritance pattern of Marfan’s syndrome?

85% autosomal dominant and rest sporadic

Defect in fibrillin type 1

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Name 2 cardiovascular manifestations of Marfan’s

Aortic root dilatation and dissection

Valvular heart disease: MV prolapse, AV and PV insufficiency

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Name 4 skeletal manifestations of MD

Long, slender limbs with arachnodactyly

Pectus carinatum/ excavatum

Ligamentous laxity in hands and feet/ pes planus

Protrusio acetabuli

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Name 2 spinal manifestations of MD

Dural ectasia (L3 to S1). May have meningocele

Kyphoscoliosis

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Name 3 head manifestations of MD

Dolichocephaly and frontal bossing

Ectopia lentis

Glaucoma and blue sclera

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Name 1 respiratory manifestation of MD

Apical blebs- pneumothorax

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What is the pathophysiology and genetics of Gaucher disease?

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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Name the 3 types of Gaucher disease.

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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Name 4 non-CNS manifestations of GD

Liver: hepatomegaly

Spleen: gross splenomegaly with mottled appearance

Lymphadenopathy

Bone marrow: bony erosions, AVN and medullary infarcts

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Name 2 CNS manifestations of GD

Dilated VR spaces containing gaucher cells

Progressive neuronal destruction

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Irregular epiphyses in a child- what should you consider?

Could be a NORMAL anatomical variant

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What is the incidence of Down syndrome? Genetics?

1: 700

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

Rest Robertsonian translocation and 1% mosaic

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4 top abnormalities or long-term complications of DS

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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Name 3 physical features of Turner syndrome (45XO)

Short stature

Webbed neck

Broad chest with widely spaced nipples

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Name 1 cardiac and 1 renal complication of Turner

Cardiac: pre-ductal coarctation

Renal: horse-shoe kidney

Note: NORMAL intelligence

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Name 2 endocrine dysfunctions associated with Turner

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

Hashimoto thyroiditis due to thyroid auto-antibodies

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When do patients with Turner get growth arrest?

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

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Name 3 MSK features of Turner syndrome

Basilar invagination and hypoplasia of dens/ C1

Shortening of 4th MC

Madelung deformity

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Apart from pulmonary hypoplasia, name 3 other associations of CDH

Aneuploidy

Congenital cardiac anomalies

NTD

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Common cardiac anomaly associated with tetralogy of Fallot?

Right sided aortic arch in 25%

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Infantile haemangioendothelioma- typical age and Rx?

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

Holoprosencephaly

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Name 1 renal condition associated with Turner syndrome?

Horseshoe kidney

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Venous malformation vs infantile haemangioma?

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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Spondyloepiphyseal dysplasia

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)

NOT associated with NEC?

Breech presentation

Name 5 MSK manifestations of Down syndrome in kids

11 ribs Flared iliac wings and horizontal acetabular roof Hypersegmentation of manubrium Persistent metopic suture Atlantoaxial subluxation

Most common renal tumour in neonates?

Mesoblastic nephroma

MCDK: inheritable and whether both sides?

NON-inheritable Usually unilateral Contralateral kidney has abnormalities in 50%: reflux, PUJ/ VUJ obstruction or ureterocele

Ependymoma in kids- how many malignant and haemorrhagic?

15% malignant 10% haemorrhagic

What is metacarpal index used for?

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

Most common sites for rhabdomyosarcoma in kids?

Head and neck (30%) Extremities (25%) Genitourinary tract (20%)

Adrenocortical carcinoma in kids vs adults

60% are secretory Virilisation or precocious puberty in kids Cushings in adults

Hepatoblastoma under US?

Hypervascular and heterogeneous echogenicity

What is Mondini malformation?

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

MAG 3 vs DTPA

DTPA undergoes only glomerular filtration (100%)- best for measuring GFR MAG 3 actively excreted: high extraction rate

PVL vs germinal matrix haemorrhage

PVL: periventricular hypoxic-ischaemic injury GMH: focal haemorrhagic infarction (usually venous) In PVL calcification is seen on US earlier than CT

MB in adults vs kids

Adults more likely to get desmoplastic variant Prone to recurrence

What is Potter syndrome?

Features secondary to prolonged oligohydramnios Lung hypoplasia Potter's facies: flat nose, recessed chin, brachycephaly Limb deformities

What is small left colon syndrome?

Immaturity of the mesenteric plexus Collapsed bowel distal to splenic flexure Associated with maternal diabetes and substance abuse NOT associated with CF

Name 2 typical features of alobar holoprosencephaly

Large monoventricle Fused thalami

Name 3 other associated features of alobar holoprosencephaly

Absence of CC Associated with Neu Laxova syndrome (AR rare syndrome- microcephaly) Proboscis above orbits with cyclopia (single orbit)

What is Wimberger sign associated with?

Bilateral destruction of medial proximal tibia Pathognomonic for congenital syphilis

What is mutation of the FGFR3 gene associated with?

FGFR3 is a negative regulator of bone growth Mutation causes achondroplasia

Most common in-utero infection?

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

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

Parvovirus B19

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

Scoliosis (radiation induced growth disturbance- scoliosis convex to the contralateral side) Post-radiation sarcoma: MFH

Most common non-lethal skeletal dysplasia?

Achondroplasia (autosomal dominant)

Name 4 features of achondroplasia

Narrow greater sciatic notch Narrow foramen magnum Decreased acetabular angles Short pedicles and reduced inter-pedicular distance

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

Orthopnoea (arrhythmias and CCF) Ataxia, heart disease and diabetes

Late onset CF: presentation?

Idiopathic chronic pancreatitis

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

Ganglioneuroma

Risk of PBC in a child if mother has it?

20%

Staging of neuroblastoma

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

What oncogene has the most profound impact on neuroblastoma prognosis?

Amplification of N-MYC oncogene

What feature suggests chemotherapy resistance in Wilms?

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

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

JIA Generally RF negative

Hirschprung disease and prematurity.

Extremely rare in premature babies

No frontal bossing

Hurler syndrome (macrocephaly and J-shaped sella)

Most and least common sarcoma of extremities?

Most common: synovial sarcoma Least common: angiosarcoma

Not associated with Wilms

Hutchison syndrome: skeletal mets from neuroblastoma

MCDK vs massive hydronephrosis on MAG-3

Both have large cysts on US MCDK has NO uptake PUJ obstruction will show uptake but no excretion

MCDK: which side and male vs female?

More common on left side More common in boys

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

Prostate most common site in boys Peak age 2-5 years. Worst Px if 1st year of life

Multilocular cystic nephroma vs MCDK?

MCN does not involve the entire kidney!

Omental infarction- location and US appearance?

RLQ anterior to ascending or transverse colon Hyperechoic mass on US

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

Nephroblastomatosis 3 monthly US until age 7 to exclude Wilms Rare after 7 years

HSP?

Non-thrombocytopaenic small vessel vasculitis IgA immune complex deposition Purpura, GI bleeding and intussusception