Sydnromes Flashcards by H JP

Criggler-Najjar Syndrome

unconjugated bilirubin build up
in infant
kernicerus
neonatal jaundice

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Ramsay Hunt Syndrome
Caused by _____
Features (6)
Rx

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

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Dubin-Johnson syndrome

Bilirubin build up
Iranian Jewish
Black liver

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Plummer - Vinson triad

dysphagia
glossitis
iron-deficiency anaemia

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Peutz-Jeghers syndrome
AD or AR
Features (4)

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

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Fat soluble vitamins

D A K E

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What is Wolfram’s syndrome?

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

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What is McArdle’s syndrome?

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

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Caplan’s syndrome

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

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What is Stauffer syndrome?

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

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What is Waterhouse-Friderichsen syndrome

Meningococcal septicaemia

Cause of Addison’s

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What is Carney complex?

syndrome including cardiac myxoma, spotty skin pigmentation

- cause of Cushings

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

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

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What is Klinefelters?

Features (5)

XXY (47)

Tall
Small firm testes
Infertile
Gynaecomastia
High GnRH, low testosterone

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What is the commonest red blood cell enzyme defect?

G6PD deficiency

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Evan’s syndrome

ITP in association with autoimmune haemolytic anaemia (AIHA)

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AD conditions

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*

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AR conditions

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

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X linked conditions

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

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

Sotos syndrome

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Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Patau chrm 13

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Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

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Edwards chrm 18

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

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Fragile X

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

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Noonan

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

Pierre Robin

Hypotonia Hypogonadism Obesity

Prader Willi

``` Short stature Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis ```

Williams

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

Cri du chat syndrome (chromosome 5p deletion syndrome)

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

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

'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?

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

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

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 ```

``` 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 ```

Turner's

Trinucleotide repeat disorders

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

Age of stillborn?

K24

Puberty First sign Male Female

Testicular growth | Breast growth

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

``` 91st centile 98th centile 1. Asian 2. Female 3. >50th centile for height ```

Paediatric BLS

``` 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

Nappy rash | Creases are spared

Irritant dermatitis

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

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

Erythematous rash with flakes. May be coexistent scalp rash

Seborrhoeic dermatitis

MMR times CI (5)

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

feeding intolerance, abdominal distension and bloody stools

necrotising enterocolitis

What is the Rigler sign?

Seen in necrotising enterocolitis | Air both inside and outside of the bowel wall

What is the football sign?

Seen in necrotising enterocolitis | Air outlining the falciform ligament

``` precocious puberty cafe-au-lait spots polyostotic fibrous dysplasia short stature = ```

McCune-Albright syndrome

``` Tower of ? 15 months 18 months 2 years 3 years ```

``` tower of: 2 3 6 9 ```

``` Drawing shapes 18 months 2 years 3 years 4 years 5 years ```

``` copies: scribble line circle cross square ```

Speaking 6 months 9 months 2 years

milestone: babbles says mama and dada combine two words

``` Fine motor 3 months 6 months 9 months 2 years ```

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

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

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

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

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

What is Capgras syndrome?

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

What is Waterhouse- Friderichson syndrome?

disease of adrenal glands caused by N. meningitidis - massive haemorrhage of adrenal glands - meningococcaemia - adrenocortico insufficiency - DIC - shock

Mx malginant hyperthermia?

dantrolene

Sydnromes Flashcards

(54 cards)