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NP- Phase 3a Medicine > Paeds- Oncology and Genetics > Flashcards

Paeds- Oncology and Genetics Flashcards

1
Q

aetiology of Downs snydrome

A

trisomy 21- non-disjunction

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2
Q

how does Downs syndrome present?

A

CV- AV canal defects , ventricular septal defects
, Tetralogy of fallot

ENT- hearing loss, sinusitis, otitis media- more susceptible, obstructive sleep apnoea

Eyes- cataracts, refractive errors

Face- epicanthic folds, small ears, protruding tongue, high arched palate

MSK- hypotonia, short, dysplastic hip, scoliosis,

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3
Q

what endocrine disorder is commonly seen in Down’s patients?

A

hypothyroidism

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4
Q

aetiology of Edward’s syndrome

A

trisomy 18- extra

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5
Q

how does Edward’s syndrome present clinically ? (craniofacial and skeletal)

A
  • craniofacial- low-set ears, micrognathia (small jaw)

- skeletal- rocker bottom feet, short sternum, radial hypoplasia

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6
Q

what typical hand posture is seen in Edward’s syndrome?

A

hands appear clenched-

fingers cannot be extended with index finger overriding middle finger and fifth finger overriding fourth finger

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7
Q

aetiology of Patau’s syndrome

A

trisomy 13

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8
Q

how does Patau’s syndrome present clinically?

A
  • IUGR + low birth weight
  • congenital heart defects
  • holoprosencephaly- cleft lip and palate, microphthalmia, nasal malformation, hypotelorism
  • learning disability
  • GI and Urogenital malformations
  • abnormalities of hands and feet- polydactly
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9
Q

describe the prognosis of Patau’s syndrome

A

very bad- median survival is 2-3 days

50% live longer than 1 week

5-10% live longer than 1 year

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10
Q

what is holoprosencephaly?

A

when the brain doesnt divide into 2 halves

seen in Patau’s syndrome

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11
Q

what are the 5 Trisomy’s?

A

downs, Patau’s, Edwards, XXX syndrome 47XXX, Kleinfelters 47 XXY

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12
Q

give an example of a minosomy

A

X0- Turners 45X

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13
Q

which autosomal dominant genes show variable penetrance?

A

BRCA 1 and 2

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14
Q

which autosomal dominant conditions show variable expression?

A

Marfans

NF1 (Neurofibromatosis)

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15
Q

give some examples of autosomal dominant conditions

A

Huntingtons
hereditary spherocytosis
Marfans
neurofibromatosis

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16
Q

give some examples of X-linked inheritance diseases

A

red-green colour blindness

Duchennes muscular dystrophy

G6PD deficiency

haemophilia A and B

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17
Q

what mode of inheritance is seen In Prader-Willi syndrome?

A

imprinting mode of inheritance

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18
Q

what is Prader-Willi syndrome?

A

complex genetic disorder characterised by hypotonia and developmental delay as an infant, and obesity, learning disability and behavioural problems (especially relating to food) in adolescence and adulthood)

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19
Q

aetiology of Prader-Willi syndrome

A

deletion in the patnerally inherited chromosome 15
OR
maternal uniparental disomy 15

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20
Q

clinical presentation of Prader Willi syndrome in infancy?

A

hypotonia at birth

failure to thrive

genital hypoplasia

delayed motor milestones

blue eyes and blond hair !

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21
Q

clinical presentation of Prader-Willi syndrome in childhood?

A

execptional interest in food- Hyperphagia (raised Ghrelin)

obesity

short stature

behavioural problems (OCD, psychosis rare)

low IQ

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22
Q

differential diagnosis of Prader-Willi syndrome

A

obesity
fragile X
Cryptochidism
Short stature

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23
Q

how is Prader Willi diagnosed?

A

DNA methylation and fluorescent in situ hybridisation (FISH)

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24
Q

how is Prader Willi syndrome treated?

A

Growth Hormone

Olanzapine, haloperidol & fluoxetine

SSRI’s

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25
Q

what is Angelmans syndrome?

A

genetic imprinting

Behavioural features include happy demeanour, easily provoked laughter,
short attention span, hypermotoric behaviour, mouthing of objects, sleep disturbance and an affinity for water

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26
Q

describe the Aetiology of Angelmans syndrome?

A

opposite of Prader Willi !

maternal deletion on chromosome 15

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27
Q

when does Angelman’s typically present?

A

3-7 years

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28
Q

clinical presentation of Angelman’s

A
  • developmental delay
  • motor development delay
  • speech impairment no/ minimal use of words
  • behaviour- laughter, hand flapping, short attention span, pinching

pathological features- microcephaly, seizures, ataxia, broad based gait, strabismus, drooling

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29
Q

how is Angelman’s diagnosed?

A

FISH- Fluorescence in situ hybridisation

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30
Q

how can Angelman’s managed and treated?

A
  • behaviour modification programmes
  • speech therapy
  • physiotherapy
  • education
  • sodium valproate & clonazepam for epilepsy
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31
Q

what is Turner’s syndrome?

A

loss of abnormality of the second X chromosome in at least one cell line in a phenotypic female

40-60%=45X0 monosomy

all infertile !

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32
Q

what is Turner’s syndrome associated with?

A

congenital heart defects

congenital lymphoedema

renal malformations

hearing loss

osteoporosis

obesity

diabetes

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33
Q

how does Turner’s syndrome present in newborns?

A

Lymphoedema of the hands and feet

cardiac/ renal abnormalities

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34
Q

how does Turner’s syndrome present in infancy?

A 
short stature
webbed neck
broad chest + widely spaced nipples
bicuspid aortic valve 
behavioural difficulties 
reccurent otitis media
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35
Q

how does Turner’s syndrome present in adolescents?

A

gonadal dysgenesis- absent puberty, amenorrhoea, impaired growth

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36
Q

how can Turner’s syndrome be diagnosed?

A

amniocentesis/ chronic villous sampling

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37
Q

how is Turner’s syndrome treated and managed?

A
  • recombinant human growth hormone
  • oestrogen to initiate puberty
  • screen and monitor autoimmune associations
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38
Q

what is Noonan’s syndrome?

A

autosomal dominant

common genetic disorder presenting with congenital heart disease, developmental delay and facial features which evolve with age

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39
Q

aetiology of Noonan’s syndrome

A

caused by mutations in the RAS/ MAPK pathway

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40
Q

what facial features are typical of Noonan’s syndrome?

A

wide, tall ofrehead

hypertelorism (wide eyes)

ptosis + down-slanting eyes

low set ears

41
Q

what features of the MSK system are present in Noonan’s syndrome?

A
  • short, webbed neck
  • broad chest with widely spaced nipples
  • pectus carinatum superiorly and pectus excavatum inferiorly
  • short fingers and short stature
42
Q

describe 2 features typical of a patient with Noonan’s syndrome

A

striking blue/ green eyes

curly, woolly hair

43
Q

give some features of Noonan’s syndrome which differentiate it from Turner’s syndrome

A
  • wide, tall forehead
  • hypertoleroism
  • ptosis
  • pectus carinatum and pectus excavatum
  • striking blue/ green eyes
  • curly/ wooly hair
44
Q

what is Neurofibromatosis?

A

autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2 and schwannomatosis

45
Q

describe type 1 Neurofibromatosis

A

more common

caused by a defect in the gene NF1, on chromosome 17q11.2- skin lesions

46
Q

describe type 2 Neurofibromatosis

A

central form with CNS tumours rather than skin lesions

presents with inherited schwannomas, typically bilateral with meningiomas and ependymomas

47
Q

describe Schwannomatosis

A

characterised by multiple non-cutaneous schwannomas- histologically bening nerve sheath tumour

48
Q

how does type 1 neurofibromatosis present clinically?

A
  • cafe-au-lait spots
  • freckling
  • neurofibromas
  • Lisch nodules
  • short stature and macrocephaly
49
Q

where do Lisch nodules present in a patient with T1 neurofibromatosis?

A

harmless brown moulds on iris

50
Q

what is type 1 neurofibromatosis also known as?

A

von Recklinghausen’s disease

51
Q

give some complications of T1 neurofibromatosis

A

mild learning difficulties

local effects- nerve root compression

increased risk of optic glioma

52
Q

describe the clinical presentation of type 2 neurofibromatosis

A
  • hearing problems- deafness and vertigo

- a few cafe-au-lait spots- usually less than 6

53
Q

when does type 2 neurofibromatosis present?

A

adults under 40 (usually in their 20’s)

54
Q

how is neurofibromatosis diagnosed?

A
  • x-ray- defects in long bones
  • MRI- diagnostic head imaging
  • NF2- hearing tests
55
Q

how is neurofibromatosis managed?

A
  • surgery- to relieve pressure from tumours/ if concerned about malignancy
56
Q

what is Fragile X syndrome?

A

Martin-Bell syndrome

x-linked semi-dominant condition

57
Q

what mutation causes fragile X syndrome?

A

FMR1 gene on Xq27 includes CGG repeat

trinucelotide repeat disorder !

this repeat lengthens as it is passed down generations; once it reaches >200, no fragile X protein is made

58
Q

how does fragile x syndrome present clinically?

A
  • delayed speech, language and motor milestones
  • low IQ/ learning difficulties
  • hyperactivity/ mood swings
  • autism
  • tactile deafness
59
Q

describe the physical features typical of a patient with fragile X syndrome

A
  • long, narrow face
  • large ears
  • prominent jaw
  • Big Testes
60
Q

what investigation would be done prenatally in a case of suspected fragile X syndrome?

A

molecular genetic testing of FMR1 gene

61
Q

what medication can be given to improve the behaviour of patients with Fragile X syndrome?

A

minocycline

62
Q

what is Klinefelter’s syndrome?

A

47, XXY karyotype

chief genetic cause of MALE hypogonadism

63
Q

how does Klinefelter’s syndrome present clinically?

A
  • gynaecomastia
  • infertility
  • tall for age
  • small testes/ penis
  • delayed/ absent puberty
  • less body hair
  • broad hips and long legs
64
Q

what is Klinefelter’s syndrome typically associated with?

A
  • psychosocial issues
  • mild learning disability
  • autoimmune diseases
  • osteoporosis
  • decreased sexual maturation
65
Q

how is Klinefelter’s syndrome managed?

A
  • androgen therapy

- mastectomy

66
Q

give some features typical of William’s syndrome

A

short stature

learning difficulties

friendly, extrovert personality

transient neonatal hypercalcaemia

Supravalvular aortic stenosis

67
Q

what genetic defect is seen in muscular dystrophy?

A

X-linked recessive

mutation to gene encoding dystrophin

68
Q

what are the 2 types of muscular dystrophy and which is more severe?

A
  • duchenne- loss of dystrophin
  • Becker- misshapen dystrophin

duchenne is more severe as 1 or both binding sites are lost- resulting in no dystrophin

69
Q

how does muscular dystrophy present clinically?

A
  • waddling, clumsy gait
  • calf pseudohypertrophy
  • classic gower manoeuvre
  • respiratory impairment
  • scoliosis and osteoporosis
  • wheelchair required by 9-12 years
70
Q

when do Duchenne’s and Becker’s muscular dystrophy typically present?

A

Duchenne- 1-6

Becker- 10-20

71
Q

what diagnostic tests and results would be seen in a patient with muscular dystrophy?

A
  • raised creatine kinase
  • muscle biopsy to confirm
  • abnormal fibres surrounding fat/ fibrous tissue
72
Q

how is muscular dystrophy treated?

A

exercise to maintain muscle power and mobility. Also delays onset of osteoporosis

prednisolone !! slows decline in muscle strength and function

73
Q

describe the gower manoeuvre typically performed by patients with muscular dystrophy

A

using hands to crawl up from a sitting position to a standing position

74
Q

what is tuberous sclerosis?

A

a multisystem disorder characterised by the formation of hamartomas in many organs (commonly brain skin and kidneys)

75
Q

aetiology of tuberous sclerosis

A

caused by mutations in either TSC1 or 2 genes on chromosome 9 or 16

76
Q

describe the clinical presentation of tuberous sclerosis

A
  • focal seizures and infantile spasms
  • poliosis
  • learning difficulties
77
Q

how is tuberous sclerosis treated?

A

Vigabatrin

78
Q

what is ALL?

A

acute lymphoblastic leukaemia

malignant disorder of lymphoid progenitor cells

79
Q

epidemiology of ALL

A
  • most common cancer in children
  • majority occur <6
  • peak age 2-4
80
Q

how does ALL present clinically?

A
  • pancytopenia- pallor, infection, bleeding
  • fever w/ no obvious infection
  • fatigue
  • severe bone and joint pain
  • recurrent and severe infections
  • mediastinal lymphadenopathy
  • spontaneous bleeding
81
Q

clinical signs of ALL

A
  • pallor
  • petechiae
  • hepatosplenomegaly
  • tachycardia
  • lymphadenopathy
  • testicular enlargement
82
Q

how is ALL diagnosed?

A
  • FBC- anaemia, thrombocytopenia, neutropenia
  • blood film- blast cells !
  • liver function tests
  • testicular US
  • bone marrow aspirate/ biopsy to confirm diagnosis
  • lumbar puncture- assesses cns involvement
83
Q

what are the 5 stages of chemotherapy?

A

induction, consolidation, interim maintenance, delayed intensification, maintenance

84
Q

give 4 complications of ALL and how they are managed

A
  • neutropenic sepsis- tazocin, gentamicin, imipenem
  • hyperuricaemia- increase fluid intake, allopurinol
  • poor growth
  • spread of cancer
85
Q

where do neuroblastoma’s arise from?

A

neural crest tissue- in adrenal medulla an sympathetic nervous system

86
Q

how would a patient with a neuroblastoma present clinically?

A
  • pallor
  • weight loss
  • abdominal mass ! (most common feature)
  • hepatomegaly
  • bone pain
  • limp
87
Q

how would a patient with a suspected neuroblastoma be investigated?

A
  • raised urinary catecholamine metabolite levels
  • confirmatory biopsy
  • bone marrow sampling if suspected mets
88
Q

what is the prognosis of a neuroblastoma?

A

very poor

89
Q

how is a neuroblastoma managed in:

  • young infants
  • localised, primary tumour
  • metastatic
A
  • young infants - can resolve spontaneously
  • localised, primary tumour- surgery
  • metastatic- high dose chemo with stem cell rescue
90
Q

Aetiology of Wilm’s tumour

A

autosomal dominant WT1 or WT2 gene on chromosome 11

91
Q

what must be avoided in a patient with a Wilms’ tumour?

A

renal biopsy ! can make condition worse

92
Q

how is a Wilm’s tumour treated?

A

nephrectomy and chemo

93
Q

how does a CNS tumour present clinically?

A
  • symptoms of raised ICP
  • headache, worse lying down
  • vomiting in morning
  • papilloedema
  • squint
  • nystagmus
  • ataxia
  • personality/ behaviour change
94
Q

how is a CNS tumour managed via:
- surgically

  • chemo
  • radiotherapy
A
  • surgically- resection
  • chemo- single/ combination treatment
  • radiotherapy- used after surgery for malignant tumours in older children
95
Q

why is chemo less effective at treating CNS tumours?

A

majority of chemo drugs cannot pass BBB

96
Q

What is a retinoblastoma?

A

most common ocular malignancy found in children

97
Q

pathophysiology and epidemiology of a retinoblastoma

A
  • loss of function of retinoblastoma tumour suppressor gene on chromosome 13
  • average age of diagnosis- 18 months
98
Q

describe some possible clinical features of a retinoblastoma

A
  • absence of red reflex, replaced by white pupil (leukocoria)
  • strabismus
  • visual problems
99
Q

what are the treatment options for a patient with a retinoblastoma?

A
  • enucleation

- external beam radiation therapy, chemotherapy and photocoagulation

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