Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MSRA > Sydnromes > Flashcards

Sydnromes Flashcards

1
Q

Criggler-Najjar Syndrome

A

unconjugated bilirubin build up
in infant
kernicerus
neonatal jaundice

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Ramsay Hunt Syndrome
Caused by _____
Features (6)
Rx

A 
Herpes Zoster 
1. Paralysis of facial nerve
2. Rash around ear
3. Blisters can form in ear canal 
4. Tinnitus + vertigo 
5. Hearing loss
6. Auricular pain 
Rx oral aciclovir + steroids
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Dubin-Johnson syndrome

A

Bilirubin build up
Iranian Jewish
Black liver

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Plummer - Vinson triad

A

dysphagia
glossitis
iron-deficiency anaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Peutz-Jeghers syndrome
AD or AR
Features (4)

A

AD
Features
1. polyps in GI tract (mainly small bowel)
2. pigmented lesions/ freckles on lips, oral mucosa, face, palms and soles
3. intestinal obstruction e.g. intussusception
4. gastrointestinal bleeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Fat soluble vitamins

A

D A K E

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is Wolfram’s syndrome?

A

cranial Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness
DIDMOAD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is McArdle’s syndrome?

A

Deficiency of muscle phosphorylase
Phosphorlase helps break down myoglobin
Causes muscle fatigue and pain during exercise

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Caplan’s syndrome

A

rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is Stauffer syndrome?

A

Paraneoplastic hepatic dysfunction syndrome
Typically presents as cholestasis/hepatosplenomegaly
Associated with RCC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is Waterhouse-Friderichsen syndrome

A

Meningococcal septicaemia

Cause of Addison’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is Carney complex?

A

syndrome including cardiac myxoma, spotty skin pigmentation

- cause of Cushings

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is Kallman’s syndrome?
How is it passed on?
Features (4)

A

X linked
Delayed puberty secondary to hypogonadotropic hypogonadism
Failure of GnRH neurons to the hypothalamus

1. 'delayed puberty'
hypogonadism, cryptorchidism
2. anosmia
3. Sex hormones levels low
4. Normal or above average height
patients are typically of normal or above average height
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is Klinefelters?

Features (5)

A

XXY (47)

  1. Tall
  2. Small firm testes
  3. Infertile
  4. Gynaecomastia
  5. High GnRH, low testosterone
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the commonest red blood cell enzyme defect?

A

G6PD deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Evan’s syndrome

A

ITP in association with autoimmune haemolytic anaemia (AIHA)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

AD conditions

A 
Adult polycystic disease
Antithrombin III deficiency
Ehlers-Danlos syndrome
Familial adenomatous polyposis
Hereditary haemorrhagic telangiectasia
Hereditary spherocytosis
Hereditary non-polyposis colorectal carcinoma
Huntington's disease
Hyperlipidaemia type II
Hypokalaemic periodic paralysis
Malignant hyperthermia
Marfan's syndromes
Myotonic dystrophy
Neurofibromatosis
Noonan syndrome
Osteogenesis imperfecta
Peutz-Jeghers syndrome
Retinoblastoma
Romano-Ward syndrome
tuberous sclerosis
Von Hippel-Lindau syndrome
Von Willebrand's disease*
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

AR conditions

A 
Albinism
Ataxic telangiectasia
Congenital adrenal hyperplasia
Cystic fibrosis
Cystinuria
Familial Mediterranean Fever
Fanconi anaemia
Friedreich's ataxia
Gilbert's syndrome*
Glycogen storage disease
Haemochromatosis
Homocystinuria
Lipid storage disease: Tay-Sach's, Gaucher, Niemann-Pick
Mucopolysaccharidoses: Hurler's
PKU
Sickle cell anaemia
Thalassaemias
Wilson's disease
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

X linked conditions

A 
Androgen insensitivity syndrome 
Becker muscular dystrophy
Colour blindness
Duchenne muscular dystrophy
Fabry's disease
G6PD deficiency
Haemophilia A,B
Hunter's disease
Lesch-Nyhan syndrome
Nephrogenic diabetes insipidus
Ocular albinism
Retinitis pigmentosa
Wiskott-Aldrich syndrome
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

excessive physical growth during the first 2 to 3 years of life =

A

Sotos syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

A

Patau chrm 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

A

Edwards chrm 18

23
Q 
Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
A

Fragile X

24
Q

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

A

Noonan

25
Q

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

A

Pierre Robin

26
Q

Hypotonia
Hypogonadism
Obesity

A

Prader Willi

27
Q 
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
A

Williams

28
Q

Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism

A

Cri du chat syndrome (chromosome 5p deletion syndrome)

29
Q 
XXY
often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia - increased incidence of breast cancer
elevated gonadotrophin levels =
A

Klinefelter’s syndrome
Primary hypogonadism (Klinefelter’s syndrome)
High LH low testosterone

30
Q

‘delayed puberty’
hypogonadism, cryptorchidism
anosmia
sex hormone levels are low
LH, FSH levels are inappropriately low/normal
patients are typically of normal or above average height

Cleft lip/palate and visual/hearing defects are also seen in some patients =?

Genetics?

A

Kallman’s syndrome
Hypogonadotrophic hypogonadism
Low LH low testosterone
X linked recessive

31
Q

46XY
‘primary amenorrhoea’
undescended testes causing groin swellings
breast development may occur as a result of conversion of testosterone to oestradiol
genotypically male children (46XY) to have a female phenotype =?

Genetics
Mx

A

Androgen insensitivity syndrome
X-linked recessive
High LH normal/ high testosterone

counselling - raise child as female
bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
oestrogen therapy
32
Q 
X0
short stature
shield chest, widely spaced nipples
webbed neck
bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
primary amenorrhoea
cystic hygroma (often diagnosed prenatally)
high-arched palate
short fourth metacarpal
multiple pigmented naevi
lymphoedema in neonates (especially feet)
gonadotrophin levels will be elevated
A

Turner’s

33
Q

Trinucleotide repeat disorders

A 
Fragile X (CGG)
Huntington's (CAG)
myotonic dystrophy (CTG)
Friedreich's ataxia* (GAA)
spinocerebellar ataxia
spinobulbar muscular atrophy
dentatorubral pallidoluysian atrophy
34
Q

Age of stillborn?

A

K24

35
Q

Puberty
First sign
Male
Female

A

Testicular growth

Breast growth

36
Q

Obesity in children
Clinical intervention at what criteria?
When to assess for comorbidities?
RF (3)

A 
91st centile
98th centile 
1. Asian
2. Female
3. >50th centile for height
37
Q

Paediatric BLS

A 
unresponsive?
shout for help
open airway
look, listen, feel for breathing
give 5 rescue breaths
check for signs of circulation
<1yo use brachial or femoral pulse, 1yo- puberty use femoral pulse
15 chest compressions:2 rescue breaths if two rescuers

30:2 if lay

38
Q

Nappy rash

Creases are spared

A

Irritant dermatitis

39
Q

erythematous rash which involve the flexures and has characteristic satellite lesions
Mx

A

Candida dermatitis
topical imidazole
do not use barrier cream during this time

40
Q

Erythematous rash with flakes. May be coexistent scalp rash

A

Seborrhoeic dermatitis

41
Q

MMR times

CI (5)

A

12-15months
3-4yo

severe immunosuppression
allergy to neomycin
children who have received another live vaccine by injection within 4 weeks
pregnancy should be avoided for at least 1 month following vaccination
immunoglobulin therapy within the past 3 months

42
Q

feeding intolerance, abdominal distension and bloody stools

A

necrotising enterocolitis

43
Q

What is the Rigler sign?

A

Seen in necrotising enterocolitis

Air both inside and outside of the bowel wall

44
Q

What is the football sign?

A

Seen in necrotising enterocolitis

Air outlining the falciform ligament

45
Q 
precocious puberty
cafe-au-lait spots
polyostotic fibrous dysplasia
short stature
=
A

McCune-Albright syndrome

46
Q 
Tower of ?
15 months
18 months	
2 years
3 years
A 
tower of:
2
3
6
9
47
Q 
Drawing shapes
18 months 
2 years	
3 years
4 years	
5 years
A 
copies:
scribble
line
circle
cross 
square
48
Q

Speaking
6 months
9 months
2 years

A

milestone:
babbles
says mama and dada
combine two words

49
Q 
Fine motor
3 months 
6 months 
9 months 
2 years
A

Milestone:
Able to reach for things, fixes and follows
Can pass things to each hand, palmar grasp
Points with finger, weak pincer grasp
Strong pincer grasp, bangs toys together

50
Q 
Gross motor 
3 
6
7-8
9
12
13-15months 
18 months 
2 years
3 years 
4 years
A

Milestone
Pulled from sitting with little head lag
Pulls self to sitting, laying on back can reach feet
Sits without support (refer at 12 months)
Crawls, pulls to standing
Cruising
Walks unsupported (refer at 18 months)
Squats to pick up toy
Runs, walks up and down stairs holding rail
Rides tricycle, can walk up and down stairs without rail
Hops on one leg

51
Q

Name as many features as you can for Down’s (26)

A
  1. Epicanthic fold
  2. Single palmar crease
  3. Upslanting palpebral fissures
  4. Brushfield spots in iris
  5. Duodenal atrsia
  6. DM
  7. Depression
  8. ToF
  9. Sandal gap between toes
  10. Flat occiput
  11. Hirschsprung’s
  12. ASD
  13. VSD
  14. Subfertility
  15. ALL
  16. Alzheimer’s
  17. Learning difficulties
  18. Short stature
  19. atlantoaxial instability
  20. hypothyroidism
  21. otitis media
  22. glue ear
  23. cataracts
  24. glaucoma
  25. blepharitis
  26. strabismus
52
Q

What is Capgras syndrome?

A

a delusion that a friend or partner has been replaced by an identical-looking impostor

53
Q

What is Waterhouse- Friderichson syndrome?

A

disease of adrenal glands caused by N. meningitidis

  • massive haemorrhage of adrenal glands
  • meningococcaemia
  • adrenocortico insufficiency
  • DIC
  • shock
54
Q

Mx malginant hyperthermia?

A

dantrolene

MSRA (22 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions