Paediatrics Flashcards

1
Q

Osteosarcoma

A

malignant

rare

teens

end of long bones - knee and shoulder.

PC: limp/pain.

DDx osteoid osteoma (night pain in long bones - benign), ewings tumour.

Mx: surgical

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2
Q

ALL, most common cancer in child.

A

2-10yo, then another peak at 40 (worse prognosis)

Sx: generalised lymphadenopathy – in > 2-3 areas.

+ letahrgy, pallor, bone pain, headaches, joint pain, pain on walking, testicular enlargement. bruising (petechiae). liver/spleen enlargement.

Ix: FBe, peripheral smear for small blasts, flow cytom, bone marrow biopsy w specialists. CXR.

Mx: pretty good mortality rate if young w CTx.

RF older: maliganncy treated w Ct/Rtx/tonsins, smoking, fhx of ALL.

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3
Q

AML (less common)

A

Sx: lethargy, pallor, gum hypertrophy, jonit pain, weight loss, pallor, petechiae.

usually 20-65 yo.

Rx: CTx, poor mortality.

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4
Q

Wilms (Nephroblastoma)

A

< 5 usually

no Sx. sometmies haematuria, abdo mass/pain + lethargy.

OE: HTN, UA show shaematuria.

Dx: cytol, uss, CT/MRI w Surgeons

Mx: surgical for nephrectomy, CTx with good prognostis

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5
Q

Retinoblastoma

A

white pupil/cats eye reflex – see on ophthalmoscopes red reflex.

sometiems just strabismus is the only sign.

Ref ophthalm.

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6
Q

Neuroblastoma (most common tumour of infancy)

A

< 2-3yo. adrenal tumour usually.

Sx: fever, lethargy, anaemia/anorexia/n/v

OE: HTN, sometimes palpable posterior lumb (if adrenal and growing at back of chest).

Ix: skeletal survey, biopsy w paeds. usually also MRI.

Mx: CTx then surgery

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7
Q

Teratoma

A

solid congenital tumour with normal tissue inside.

can sometimes feel mass - midline or gonadal. ,Sx depend on location (constipation, cause, incontinence, weakness

Ix: USS

Mx: surgeon

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8
Q

DEVELOPMENTAL MILESTONES: 6 weeks

A
  • morro response
  • head control when pulled
  • startled by loud noises
  • coos
  • smiles/response to smile

RED FLAGS

  • not smiling
  • asymmetrical morros
  • not following vision.
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9
Q

DEVELOPMENTAL MILESTONES: 3-4 months

A
  • rolls
  • prone head raised (tummy time)
  • no head lag.
  • reaches , grasps, puts things in nmouth
  • coos,r esponds to voice, laughs
  • smile, eye contact, recognises parents
  • tracks moving person around room

RED FLAGS

  • not started by noise
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10
Q

DEVELOPMENTAL MILESTONES: 6 month

A
  • sitting up
  • PO intake (start allergenic foods slowly, like egg/peanuts)
  • ulnar grasp
  • babbles, responds to name
  • stranger anxiety

RED FLAGS

  • not smiling; not babblinb, not reaching/holding, hands clenched all the times, doesnt put things in mnouth, doesnt bring things to midline w hands together, not holding head w good control / when supported sitting.
  • permanent primitive reflexes (suck/morrow/grasp) (should go by 4-6 months, if persistent = CP)
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11
Q

DEVELOPMENTAL MILESTONES: 9 months

A
  • crawls
  • pulls to stand
  • palm to finger/thumb
  • follows dropped toy
  • mama/dada (2 part babble)
  • separation / stranger anxiety.
  • plays

RED FLAGS

  • permanent primitive reflexes
  • not weight bearing
  • not reaching/using gestures (pointing)
  • not fixing vision
  • not vocalising/sharing enjoyment w others
  • not sitting.
  • not holding objects
  • not responding to ‘ta’
  • not rolling
  • not sitting indepednetly
  • not crawling/creeping/shuffling
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12
Q

DEVELOPMENTAL MILESTONES: 12 months

A
  • walks with support
  • throws
  • 2 words with meaning
  • one step commands
  • waves bye
  • drinks from cup

RED FLAGS

  • hand preference shown.
  • not responding to name
  • not noticign someone new
  • not playing peekaboo!
  • not babbling
  • not feeding self/holding own bottle
  • not picking up small things
  • not indepednetly mobilising: crwaling/commando/bottom shuffling.
  • not pulling to stand indepedently
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13
Q

DEVELOPMENTAL MILESTONES: 18 months

A
  • walks independently
  • climbs
  • towers 3 cubes
  • squats, takes off shoes
  • 10 words, points to body, follows simple commands
  • uses spoon
  • toilet awareness
  • mimics things

RED FLAGS

  • not walking
  • no pincer grip
  • persistent casting
  • not playing with others
  • no clear words
  • not able to undersatnd short requests : where is the ball
  • not scribbling
  • not standing independently
  • not atetmpting to walk
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14
Q

DEVELOPMENTAL MILESTONES: 2 years

A
  • climbs, stairs
  • runs, kicks valls
  • towers 6 cubes, helps undress
  • 2-3 word phrases
  • mostly intelliglbe speech
  • parallel play

RED FLAGS

  • just banging/throwing toys rather than cuddling dolls/buildilng blocks
  • not learning new words. not putting them together
  • doesnt attempt to feed self
  • not walking independently
  • not walking up /down stairs holding on.
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15
Q

DEVELOPMENTAL MILESTONES: 3 years

A
  • tricycle
  • jumps on one foot
  • dresses self
  • copies circle/cross
  • letter matching using chart
  • counts to 10
  • 75% intelliglbe speech
  • dry by day.
  • plays w others
  • knows age/gender

RED FLAGS

  • inaccurate use of spoon/small objects (threading beads)
  • not running/jumping/stairs.
  • not speaking w sentences
  • not following simple commands
  • not interacting w other children
  • not noticing feelings about them selves (sad/happy)
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16
Q

DEVELOPMENTAL MILESTONES: 4 years

A

RED FLAGS

  • not playing cooperatively
  • speech difficult to undersatdn
  • not able to follow directions x 2 (put bag away, then go and play)
  • not toilet trained by day.
  • not drawing circles/lines
  • not able to walk/run/climb/jump confidently
  • not catching/throwing ball
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17
Q

ANY AGE DEVELOPMENT RED FLAGS

A
  • red flags
    • parental concern
    • loss of skills/regression
    • lack of response to sound/visual stim
    • poor interaction w adutls/children
    • lack of or limtied eye contact
    • R and L body strength/movement/tone abnormal
    • marked low tone (floppy) or high tone (stiff) and impacting skill
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18
Q

RF for Dev Delay

A

BIOLOGICAL

  • prem
  • LBW
  • birth injury
  • genetic condition
  • vision/hearing impairement
  • chronic illness

SOCIAL/ENVIRO

  • DV
  • low parental education
  • parental mental illness
  • social isolation
  • poor housing
  • poor quality services
  • lack of access to services
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19
Q

OE for development delay

A
  • growth parameters
  • asses domains: social/motor/fine motor + self care/communication
  • general apperance: dysmorphic features.
    • neurocutaneous signs: cafe au lait spots, neurofibromas, ash leaf spots)
  • hearing/vision testing if able.
  • cardiac for murmus/neuro exam for tone.
  • general exam
  • Ix: consider bloods/urine –> usually paeds for then genetic testing/karyotype screening + imaging like MRI.
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20
Q

Downs / Trisomy 21

A
  • typical facies (flat, slanting eyes, prominent apicanthic folds, small ears)
  • hypotonia
  • single palmar crease
  • intellectual disability.

associated:

  • seizures, hearing. alzheimrs like dementia
  • leuakaemia
  • hypothyroid / coealiac / diabetes
  • congenital anomalies: TOF/hirschprung/duodenal atresia

Mx

  • referral to DDelay unit
  • hearing/vision / SP/OT assessment
  • cardiac asessment
  • menstrual management, contraception. presume fertility
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21
Q

FXS

A
  • large prominent ears, long narrow face, macroorchidism, intellectual diasabilty
  • commonest inheritable developmental disability
  • usually demonstrated only in male, female carry.
  • associated
    • ASD
    • AD, no HD
    • learning/speech delay, intellectual disabilty
    • seizures
    • connective tiss disorders
    • coordination difficulty
    • late onset tremor
  • Mx
    • genetics refeerral
    • MDT
    • early MDT + paed involvement
    • manage epilepsy and mood/adhd.
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22
Q

Prader Whilli syndrome

A
  • hypotonic + weak suction, FTT
  • dysmorphic face w hypogonadism and small hands/feet
  • obsessive, repetitive activities.
  • mood instabilty and self multiation common.
  • Mx
    • paesd, MDT, early Dx/referral

remember pt in clinic w asthma/seeking ED.

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23
Q

Turners Syndrome

A
  • short stature, webed neck, low hair line, micrognathia.
  • lypoedema of extremities
  • coarted aorta
  • mentdal def is rare
  • primary amenorrhoea/infertility
  • Mx
    • growth hormone w specialsit
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24
Q

CP

A
  • think w hyeprtonia/recurrent primitive reflexes
  • RF
    • TORCH, birth defect, preterm, IUGR, multiple pregnancy, cerbral infection//head truama in birth. LBW. lower SES.
  • there are different types
    • permanatn and unchange
    • involves posture/motor/movement disorder.
  • Mx: specialist
    • manage associated conditiosn
      • epilepsy
      • intellectual disabiltiy
      • hip repalcements/pain
      • behavioural disorder
      • bladder control
      • dribble
      • blind
      • deaf
    • manage: UTI, constipation, diet/growth issues, pressure sores, sleep. pain.
25
Q

COLIC

A
  • excessive crying, > 3 hours/day, > 3 days/week (can be normal at 6-8 weeks).
  • improved by 3-4 months
  • usually worse in evening/afteroon. can last hours and look like pain.

cause:

    • tiredness (16 hours newborn, gets tired after 1.5 hours).
  • hunger
  • non igE cow milk/soy protein allergy
  • lactose o/load / malabsorption

examine thoroughly, if no red flags, good feeding + growth + no features of lactose overloade/CMA –> reassurance only.

Mx

  • no evidence that reflux medication helps compared to placebo.
  • no proven benefit for colic mixtures.
  • some benefit for lactobaciullas if exclusively BF < 3 months.
  • normalise, discsuse changing stimulus/temp/nappy/feed/settle in predictable ways. dont stress burping! talk about the dial up button.
  • dont forget PNDepression. and resources.
    *
26
Q

colic red flags + DDx

A
  1. sudden onset
  2. post natal depression
  3. excessive crying (strong RF for shaken baby)

ddx not to miss:

UTI, GIT, corenal FB/abrasion, hair torniquet, incarcerated inguinal hernia, injury, raised ICP.

27
Q

vomitting in infant flow chart

A
  • Consider organic Dx when medical PHx/red flags/FTT.
  • if not
    • ?complications of GORD:
      • poor feeding, poor growth, recurrent aspiration, cough and wheeze
        • exclude CMPA w mum 2 weeks - if improves then great.
        • ongoing?
          • 4 week omperazole trial –> if not changed then expedite paed
            • if improved then time off - natrual history is that it resolves w time
    • if unsettled: reassure/manage as per Colic
    • if no complications then just GOR
28
Q

GOR / D

A
  • not usually the cause of crying.
  • GOR is physiological, common, healthy in thriving babies.
    • posset vomits, severeal times a day. usually pre-8 weeks. peaks at 4 months then improves.
  • GORD is rare
    • refusal of feed
    • profound irritabilty w feeding
    • aspiration
    • coughing/wheezing
    • slow weight gain
    • haematemsis
29
Q

GOR/D Mx

A
  • GOR
  • non pharma
    • positioning (20-30 mins elevation post feed), prone sleeping not recommended.
    • thickenning (antireflux formual are prethickenned/EBV w thickenning - can cause constipation!)
    • optimise feeds: LC/MCHN
  • pharma
    • if no improvement/GORD …… could trial omeprazole 5mg OD.
      • BMD/micronutrient def/GE/CAP risk.
      • not to use as a diagnostic trial
      • also would be referring to paed at this point
    • not gavascon
  • GOR is not an indication , by itself, to change formula
    • < 4-6 months and only BF –> not doing any harms to oesophgaus.
    • not acidic until > 2 hours post feed.
    • PPI doesnt reduce crying!
  • factsheets/resources
30
Q

functional constipation

A
  • >2 of presnt for 1-2 months
    • < 2 stools/weekk
    • retetntive posturing/incomplete evacuation
    • painful/hard BO
    • large diameter stools
    • large fecal mass in rectum
    • if toilet trained: >1/week of soiling/incontinence.
31
Q

constipation ddx

A
  1. functional
    1. also consider daycare/school/new foods/solids.
  2. medical
    1. CMPA
    2. FPIES
    3. Coealiac
    4. hypothyroid
    5. hypercalcaemia
    6. slow transit constipation
    7. neurological
  3. surg
    1. hirschprung
    2. mec ileus
    3. anatomical malformation of anus
    4. spinal cord abnormality

OE: remember neuro/gait/tone/sensation/fissures if consent/family concent.

Ix: only if not respond to laxatives

32
Q

constipation mx

A
  1. usually requies months of tratement, if stopped early will likely reoccur
  2. non pharam
    1. behavioural: knees up, 5 mins, 3 times/day after meal; positive reinforcement; diary/gold star’exercise’review toilet access at school.
  3. diet
    1. not just increase fibre - inadequate.
    2. excess Cows Milk intake in some kids
  4. med
    1. osmotic/lubricants = long term. wont produce ‘lazy bowel’.
    2. infant: coloxyl drops
    3. 1-12 = movicol/osmolax.
    4. child: movicol/lacultose or parrafin oil (parachoc)
  5. if severe pain/PR beleding : inpatient disimpaction a good option.
33
Q

red flags for vomitting/reflux

A
  • premature child
  • re-presentation
  • progressively worse
  • > 6 months before onset
  • FTT
  • bilious vomitting
  • significant diarrhoea/constipation
  • mucous/blood in stools
  • fever / dehydration / abdo rigidity / HSmegaly / bulging fontanelle /abdominal mass / hernia
  • signs of NAI
34
Q

Jaundiced Baby

Types:

  • pathological - G6pd def, sepsis, bruising/bleeding, alpha thal trait, isoimmunisation/haemolysis

24hr - 14 days

  • physiological
    • breast milk jaudince/dehydration
  • sepsis
  • haemoylsis
  • bruising/trauma

> 14 adys

  • Thyroid
  • LFT

if conjugated > 10% of total billi:

  • hepatitis; extrahpeatic causes like biliary atresia, metabolic: alpha 1, drug
A
  • pathological if
    • < 24 hours.
      • sepsis, haemolysis, G6PD def, alpha thal trait, haemorrhage inc. abdo/cranial bleed.
    • unwell,
    • elevated conjugated,
    • > 14 days,
    • pale stool.
  • history
    • anc course, maternal blood group, TORCH infections
      • toxo
      • other: syphillis, parvo, varicella, lsiteria
      • rubella
      • cmv
      • hsv2.
    • birth: ?trauma/infection.
    • feeding: BF/formula/weight gain/latch
    • output: fluids status/ stools/urine.
    • FHx: ABO / rhesus, spherocytosis/G6PD def/thyroid
  • OE: watch for kernicterus/plethora/bruising/HS megaly.
    • watch for >10% weight loss
  • Ix:
    • serum bilirubin (SBR) w unconj + conj.(if borderline repeat at 24 hrs)
      +/- FBE
      +/- coombs
    • < 24 hours inc. reticulocytes + neonatal blood group

Mx: comapre to photothearpy line and hours old.

35
Q

FTT

ddx

  • inadequate intake (formual errors, early intro solids, restriction, clef palate, vomtis etc)
  • psychosocial
  • inadquate absorption (coealiac, CMPA, panc insuf w CF, CLD, chronic diarrhoea
  • excessive ultilisation (infection/UTI/Chronic resp like CF, CHD, DM , hyperthyroid)
  • other genetic syndromes.
A
  • < 10th or > 90th then needs further investigation
  • or > 2 centiles dropped.
  • expect 10% loss in first 1 week then need to gain it again by 2 weeks.
  • remember to adjust for prem charts < 37 weeks (until 2yo)
  • weight goes first then ht/hc
  • hx
    • feeds/duration/quantity (about 150mL/kg/day first 6 months, gradual start); solids, number + quantity of snacks, milk intake per 24 hours in toddlers
    • output: vomitting, stools , WN/UOP
    • any specific food allergies/triggers; or parental dietary restrictions.
  • phx:
    • chronic/current illness. recurrent infections
  • family growth: patterns/mid parental height
  • family psychosocial assessment - vulnerability
  • OE:
    • does the child look proportional?
    • hydration/signs of underlying systemic diagnosis, pattern of growth/correlate w any specific thing like solids
    • muscle bulk/subcut fat storage, nails/hair/skin.
    • developmental level
    • caregiver child interactions, signs of NAI
  • Ix:
    • UA
    • glucose/tsh/ferritin, lft, fbe. solids/feeds w gluten: coealiac serology + total IgA
    • micronutrients: B12 if malabsorption.
    • stool: microscopy/fat, > 12 months: calprotectin
  • Mx
    • child health nurse, LC.
    • paed
    • DT, SP. MDT
    • psychologist? Sw.
36
Q

CMPA/Lac o/load

A

CMPA = mucousey stools w blood, eczema, mostly night poor feeding –> maternal elimitaion 2 weeks / extensively hydrolysed formual but shoudl see paeds. shoudl self resolve

Lact O/lead = frothy watery explosive diarrhoea w perianal excoration –> block feeds, lactase treated BM/lactose free formula

37
Q

food allergy

A
  • common: egg/CM/peantut/treenut/seafood/soy/wheat.
  • early egg/peanut intro helps

Type:

  • IgE mediated
    • hives/resp/cvasc/angioedema
  • non IgE mediated
    • predominantly GIT, eczema (can trial exclusion diet)
  • atopic (Fhx/phx)
  • investigations : mainly to see if woudl be suitable to desensitisation.
    • child: allergy clinic prior to going through RAST
    • adult: specific RAST tests - has panels if IgE mediated/atopic
      • e.g. moulds/dust etc.
    • private cost.
38
Q

HEADSS

A

Home

Education, employment, eating, exercise

Activities and peer relationships, social media

Drug use/cigarettes/etOH

Sexuality and gender

Suicide, self harm, safety, spirituality.

39
Q

Knock Knees

A

genu valgum

physiological between 3-5, resolved by 8yo.

familial aspect.

OE: ht/wt/bmi/intremalleolar distance in standing w knees together.

Ix: 1) unilatearl ;2) progressive, 3) doesnt resolve. can do serial measurements to reassure onesself.

Mx:

1) refer if > 8cm separation; > 8 yo, asymmetrical, progressive, pain/post op/ other skeletal issues

40
Q

Bow Legs

A

physiological up to 2-3 yo

pathological: rickets, blounts.

OE: ht/wt/bmi, assess for intoeing, measure distance intercondylar w feet together

Ix: XR is unilatearl; progressive, not resolved > 3 yo.

Mx:

  • reassurance, usually no rx required.
  • refer if >6cm separation; asymmetrical, > 3yo, progressive, pain, ht < 5th/other deformities
41
Q

Limp

A

All ages: NAI, tumour, infection (SA/OM), refrred

1-4: DDH, TS

4-10: perthes, TS, JAI

10-15: SUFE

42
Q

DDH

(babies)

A
  • hip development goes on from birth; with DDH get a shallow ‘cup’ to put the head into + can dislocate.
  • RF: female, breech, intrauterine, plagiocephaly, foot deformitions, torticollis.
    • FHx DDH, twins, first pregnancy
  • OE:
    • unstable barlow or ortolani.
    • limited hip abduction
    • LLD
    • waddling gait
    • deep uneven gluteal crease.
  • Ix: < 6 mo = uss; > 6 mo= XR
    • if RF present: screen w USS after 6 weeks regardless.
    • USS looks at alpha angle, want > 60;.
  • without Rx: hip pain/oa/back pain/limp
  • Mx: refer for opinon, even if uss normal and LLD/pos ortolani. +/- bracing.
43
Q

Perthes = AN of prox femoral epiphysis

4-10 yo

A
  • RF: boy > girl, age.
  • PC: hip/groin pain + limp; mainly w activity.
  • OE: reduced abduction/int rotation/irritable hip. does vary.
  • happens gradually - across months.
  • Ix: hip XR w frog leg view.
    • can be normal initially so repeat if ongoing
  • Mx:
    • analgesia
    • ortho referral
      • sometimes just restrict ROM, sometimes plaster/sling/spring.
        *
44
Q

SCFE

10-15yo

A
  • RF: overweight > 90th, male, 10-15yo, sometimes hypothyroid.
  • PC: limp/hip/groin pain radiating to knee, leg externally rotated and abducted. when flex –> externally rotate + walk w outtoeing. affected leg shortenned.
    • pain worse w activity and stressing hip jonit
    • FHx SCFE
  • 2 types: acute and chronic (> 3 weeks); and stable/unstable (cant WB)
  • Ix: urgent
    • XR w frog leg + lateral
    • look for kleins line.
  • Rx:
    • NWB, urgent ortho referral.
  • complications: ON, chrondolysis, OA, impingement femoral acetabular.
45
Q

Transient synovitis

A

often post viral

usually able to walk, but with some discomfort

review in 3-5 days to ensure not worsenning, strict return precautions

RED FLAGS FOR LIMP NOT INDICATING TS:

  • acute, severe, > 7 days, nocturanl symptoms, B symptoms, systemic symptorms, peetechiae/purpura.
46
Q

scoliosis

A
  • pre adolescent onset suggestive of pulmonary/cardiac complicatoions/red flags.
    • cause
      • idiopathic
      • NM : CP , SMA, SB, MD
      • Congenital
      • Other:
        • collagen disorder, irradiation, metabolic, nfmtss
      • non structural
        • poor postura, LLD, trauma, tumour, infection, nerve
  • OE: asymmetry w observation + w lean forwads, look for LLD.
  • Ix: XR inc. lateral for curvature.
47
Q

flat feet

A

common in < 3 yo

if able to stand on tippie toes + arches correct – no need for Rx, and if foot can be seen in non weight bearing positiong then no Rx required.

mostly should improve by 6yo, if painless they dont need orthotics; but if painful/asymmetrical/tedner/rigid then refer

48
Q

In toeing

A

shoudl imrpove w age

If exceeding normal limit,

  • Asymmetrical
  • Tripping
  • Progressive
  • Associated knee pain
  • Or hypertonicity
  • -> Then refer.
49
Q

out toeing

A

common in early walkers w hip limtied internal rotation.

can be associated w knock knees/flat foot.

OE: ensure not scfe.

Mx: if not scfe then reassure, will grow out of it

  • If significant/progressive/functional difficulties then refer.
50
Q

Vascular birthmark

A
  • naevus simplex (salmon patch/stork patch); indistinct border + pink to bright red, blanch w crying, often facial, resolved by 1-3 yo
  • port wine stain: unilatearl red macule, involving skin +/- mucosa. can darken and thicken, usually CN 5. specialist review as can mean neuro/otphalm involvement.
  • hemangioma: benign vascular tumour: prem/female more common. often come up months after birth. gradually the patch involutes over sevreal years. watch for internal organ involvment as can be deeper and compress thigns
    • Rx to prevent scarring/disficurement: propranolol, pred, paeds.
  • ddx (from birth: harlequin patch but obvious)
51
Q

Miliaria

A
  • blockage of sweat ducts - often w hot/humid neonate (1 week), but can occur w adults later in life.
  • 2-4mm red, non follicular papules and papuloveiscles, itchy. spares face?
  • can get superimposed infection
  • ddx: TENS, grovers, bact folilculitis, acne, HSV
  • Mx:
    • cool environment. breathable cottons, remove wet clothing, cold water compression, calmomile for discomfort, mild steroid.
52
Q

febrile convulsions classification

A
  • 6mo - 6yr. 1: 30 kids.
    • 50% reoccurence rate if 1yo w first; then 30%. particularly if < 18 months w first seizures.
      • other RF: fhx febrile convulsion/epilepsy
  • SIMPLE
    • fever + GTC, < 15 mins, < 2 in 24 hours; no hx of afebrile convulsions
  • COMPLEX
    • fever + > 15 min OR focal OR reoccur within 24 hours.
  • simple –> no investigation required as long as clear source of fever (makes full recovery post)
  • complex –> need to work up/structural abno, full LP etc.
  1. Mx:
    1. any seizure > 5 mins needs rx. or if duration unknown (IN benzo 0.3mg/kg) - repeat at 5 mins

long term

  • no evidence to say this simple will result in any lasting damage.
  • most wont develop epilepsy
  • but if < 1 yo, and lots of RF –> up to 10% from population risk of 1% afebrile eizures.
    • fhx epilepsy, febrile status epilepticus, neurodevelopmental issues.
  • panadol wont stop reoccurence.
53
Q

haemaglobinopathies

A

carrier (not relevant unless planning pregnancy) - auto recessive pattern.

vs. symptomatic (aneamica)

  • tissue ischaemia/dactylitis , splenomegaly: SCA
  • severe anemia, HSMegaly and FTT in childhood, usually transfusion dpendent: Beta thal. major.
  • milder anaemia, later in life. risk iron overload –> beta thal minor
  • hydros fetalis: alpha thal. usually death in neonatal period.

Ix: microcytosis, anaemia, high reticulocyte count –> do ferritin if low or not improved by iron trial/strong fhx –> Hb electrophoresis +/- DNA studies (if pregnant dont trial rx just go straight into Hb + DNA for alpha thal)

discuss genetic implications.

54
Q

ITP (immune thrombocytopenia purapura)

A
  • autoimmune
  • 2-4 yo
  • Sx; acue onset generalised petechiae, purpura, easy bruising, somteimes bleedingmucosal.
    • 1-4 weeks post viral illness
  • Rx : Paeds. low risk of ICH, but present.
  • usually resolves within3 months.
  • education important: restrict injury/truma/avoid NSAID + anticoagulants.

ddx laeukaemia. SLE, aplastic anaemia.

55
Q

T1DM

A
  • remember to do GAD antibodies, insulin antibodies; as well as tfts, coeliac.
  • if overweight: then do C peptide also (T2DM), LFT and lipids

GP role really in identification (you know this)

+ mx

  1. 3 monthly weight + injectino site check
  2. check for renal/neuropathy.
  3. check other autoimmune things like thyroid/CD.
  4. choelsterol 5 yearly if > 10.
  5. BP yearly
  6. GPMP TCA - DT, DE. EP? post ex hypos.
  7. travel planning , school plans etc.
56
Q

para/phimosis

A

3-4 yo, about 90% can retract foreskin to visualise glands

  • becomes pathological when try to retract forecully –> scarring, –> tightenning–>phimosis w urine issues.

Rx: hydrocort 1% TDS for 1 month.

Circumcision: no medical indication; if balooning/> 10 / steroid ineffective/parental anxiety: paed urol

NORMAL CARES:

  • just leave it alone, no specific care needed, dont try to repeated draw back. later in childhood gently retract while bathing, as not as not forceable
57
Q

hydrocele in child

A

usually non communicating so resolved by 1 year, left over from development

if communicating, > 12-18 months; and often worse at night, smaller in mornings: UROL refer

if older boy w hydrocyele_ truanma/torsion/epidigymoorchitditis. cancer.

58
Q

circumsicion advice

A
  1. role of forescun: protect glands, sensory part of penis (primary)
  2. health benefits of circumcision (dubious, mainly in african countries or high NNT)
    1. reduced HIV contraction w heterosexual males in higher prevalent areas.
    2. STI: some protection from circumsicoin for HPV/HSV but african studies
    3. UTI: 100 circumcisions, for 1 to prevent UTI
    4. penile cancer; 320 000 circumcisions to protect 1 penile cancer.
  3. risks
    1. ops, operator dependt, acute inc. penile injury; chronic inc. adhesiosn/metal stenosis.
59
Q

Enuresis

A
  • day time = 4yo.
  • night time = 7 yo
  • genetic tendency.
  • red flags: secondary, polydipsia/uria/ LUTS/HTN/renal issues, FTT, spinal Sx, systemic illness. acute (UTI)
    • often if secondary medical/emotional/physical problem
  • always ask about fluid + caffeine intake!
  • bowels bowels bowels - constioation.
  • snoring/disturbed sleep.
  • social history as well
  • OE; look for FTT, HTN. distended baldder, fecal mass, lower back.spinal exam.
  • Ix: UA
  • Rx:
    • never Rx < 6yo as usually spontaneously resolved
  • alarm therapy most effective - child wakes, not parent. takes motivation of child + parent. 6-8 weeks! may not wake themselves initially but need to learn this.
    • reward system for waking + going to toilet
    • not for dry nights.
  • treat constipation
  • dont force fluid restriction
  • regular toileting throughd ay
  • pharma:
    • desmopressin tab, but high relapse rates (use for sleepovers).
      • SL. risk hyponatremia.
      • need strict fluid restriction: 1 hour prior and 8 post. if cant then dont use.