Sydnromes Flashcards
Criggler-Najjar Syndrome
unconjugated bilirubin build up
in infant
kernicerus
neonatal jaundice
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
Dubin-Johnson syndrome
Bilirubin build up
Iranian Jewish
Black liver
Plummer - Vinson triad
dysphagia
glossitis
iron-deficiency anaemia
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
Fat soluble vitamins
D A K E
What is Wolfram’s syndrome?
cranial Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness
DIDMOAD
What is McArdle’s syndrome?
Deficiency of muscle phosphorylase
Phosphorlase helps break down myoglobin
Causes muscle fatigue and pain during exercise
Caplan’s syndrome
rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules
What is Stauffer syndrome?
Paraneoplastic hepatic dysfunction syndrome
Typically presents as cholestasis/hepatosplenomegaly
Associated with RCC
What is Waterhouse-Friderichsen syndrome
Meningococcal septicaemia
Cause of Addison’s
What is Carney complex?
syndrome including cardiac myxoma, spotty skin pigmentation
- cause of Cushings
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
What is Klinefelters?
Features (5)
XXY (47)
- Tall
- Small firm testes
- Infertile
- Gynaecomastia
- High GnRH, low testosterone
What is the commonest red blood cell enzyme defect?
G6PD deficiency
Evan’s syndrome
ITP in association with autoimmune haemolytic anaemia (AIHA)
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*
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
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
excessive physical growth during the first 2 to 3 years of life =
Sotos syndrome
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Patau chrm 13
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
Edwards chrm 18
Learning difficulties Macrocephaly Long face Large ears Macro-orchidism
Fragile X
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
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)
- Epicanthic fold
- Single palmar crease
- Upslanting palpebral fissures
- Brushfield spots in iris
- Duodenal atrsia
- DM
- Depression
- ToF
- Sandal gap between toes
- Flat occiput
- Hirschsprung’s
- ASD
- VSD
- Subfertility
- ALL
- Alzheimer’s
- Learning difficulties
- Short stature
- atlantoaxial instability
- hypothyroidism
- otitis media
- glue ear
- cataracts
- glaucoma
- blepharitis
- 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
