Common long cases (Paeds)

1. Nephrotic syndrome
● If mother said HOPI is for the purpose of the exam (totally well)
● 1st episode when? p/w
o Periorbital swelling/ facial puffiness/ generalized swelling?
o Frothy urine?
o Oliguria?
o Preceded by any infections? Skin or throat?
o Any features non-minimal change NS?
▪ Persistent HTN
▪ Renal impairment
▪ Gross hematuria
● On what kind of treatment?
o Steroid – any features of steroid toxicity? Mother’s concerns?
o Or is it steroid resistant NS (which require to refer Paeds nephrologist and renal
biopsy)? Or steroid dependent NS?
o Or is he on Steroid sparing agent?
o On medication currently? If yes, what medication with dosage and why?
● Any episode of relapse? Categorize:
o Infrequent relapse?
o Frequent relapse?
o Relapse while on prednisolone?
o When is the last relapse?
● Any episode presented with complications?
o Hypovolemia
o Primary peritonitis – complained of severe abdominal pain
o Thrombosis
● Any episode leading to PICU admission? What kind of treatment received?
● Home urine albumin monitoring?
o Did parents know when to go back to hospital? – if albuminuria ≥ 2+ for 3
consecutive days or 3/7 days; or when the patient becomes oedematous regardless
the urine dipstick results
● If the patient is on long-term steroid therapy: vaccinations received? (Pneumococcal
vaccination is a MUST)
● Birth history: normally uneventful with normal developmental milestone
● Family history: any similar illness?
● Social issues:
o school bully or
o low self-esteem due to short stature or moon face;
o mother's concern whether steroid toxicity reversible or not?
o School performance affected or not due to absenteeism?
o Any financial issue: urine dipstick: bought themselves or provided by hospital?
o Who serves the medication?

▪ O/E: periorbital swelling? generalized swelling? Any evidence of skin infections (or is there
any skin changes?) pallor; jaundice? Short stature (comment would like to plot on growth
chart)
▪ Evidence of peritonitis? Ascites? Scrotal swelling?
▪ Any evidence of long-term steroid usage?
Common long cases (Paeds)

Definition:
What is NS?
A clinical syndrome of massive proteinuria defined by
● Oedema
● Hypoalbuminemia of < 25g/L
● Proteinuria > 40 mg/m2/ hr (>1g/m2/day) or an early morning urine protein Cr index of >
200 mg/mmol (>3.5mg/mg)
● Hypercholesterolemia
a) Steroid resistant NS: failure to achieve response to an initial 4 weeks treatment with prednisolone
at 60mg/kg/day
b) Steroid dependent NS: ≥ 2 consecutive relapses occurring during steroid taper or within 14 days of
the cessation of steroids.
c) Frequent relapse NS: ≥ 2 relapse within 6 months of initial diagnosis/ ≥ 4 relapse within any 12
months period

Management:
Investigations
o FBC
o RP
o Serum cholesterol
o LFT (serum albumin)
o Urinalysis; Urine C+S
o 24hr urine protein

Treatment
General tx
● Normal protein diet with adequate calories; No added salt to the diet when the patient is
oedematous
● Penicillin V is recommended at diagnosis and during relapses
● Careful assessment for haemodynamic status
o Hypovolemia: Abd pain, cold peripheries, poor CRT, poor pulse vol ± low BP
Common long cases (Paeds)
o Hypervolemia: basal lung crepitations, rhonchi, hepatomegaly, HTN (fluid restrictions is not
recommended)
● Diuretics (eg: Frusemide) have to use with caution, as it may precipitates hypovolemia; normally
used with human albumin (20-25%) at 0.5 – 1.0 g/kg + IV Frusemide at 1 – 2 mg/kg in a
symptomatic grossly oedematous states to induce diuresis [fluid overload and APO can occur with
albumin infusion esp in those with impaired renal fn; urine output and BP should be closely
monitored]
● On nephrotic chart (fluid intake, urine output, urine protein, daily weight, daily BP)
● If patient is going to on long term steroid treatment: Calcium and Vit D supplements should be
given as well

For steroid sparing agents

Cyclophosphomide
o Ind: for the treatment of steroid dep NS with signs of steroid toxicity
o Begin therapy when in remission after induction with corticosteroids
Common long cases (Paeds)
o S/E: leucopenia, alopecia, haemorrhagic cystitis, gonadal toxicity (so monitor FBC & urinalysis 2
weekly)
o Dose: 2-3mg/kg/day for 8 - 12weeks; cumulative dose: 168 mg/kg
o Relapse after a course of cyclophosphamide treated as for relapses (if not steroid toxic); if patient is
steroid toxic – refer for other SSA (Levamisole – 2.5 mg/kg EOD for at least 12 mths; Calcineurin
inhibitors: cyclosporin/ tacrolimus; MMF; Rituximab)

** Acute adrenal crisis: in children on long-term steroid therapy (equivalent to 18 mg/m2 of cortisone
daily) when thy under stress condition; Ix: IV Hydrocortisone 2-4mg/kg/dose TDS or Prednisolone
1mg/kg/day)

● For steroid dep NS

o Refer for renal biopsy, as specific treatment will depend on the histopathology
o General Mx
▪ Control of edema
● Restriction of dietary sodium
● Diuretics: Frusemide/ spironolactone
▪ ACEI/ ARB
● Monitor BP and RP 1-2 weeks after initiation of ACEI/ ARB
▪ Penicillin prophylaxis
▪ Monitor Renal fn
▪ Nutrition: normal protein diet, restriction of dietary sodium
▪ Evaluate Ca & phosphate metabolism

◊ When to refer Paeds Nephrology consultation?

o Iage <12 mths/ > 12 years
o Persistent HTN; Persistent microscopic haematuria
o Elevated Cr despite correction of hypovolemia
o C3/4 below normal range
o Unclear of nephrotic vs mixed (eg: macroscopic hematuria, intravascular fluid overload with
HTN, renal impairment)
o Steroid resistance
o Needing SSA beyond cyclophosphamide/ levamisole

2. Thalassemia
Common long cases (Paeds)
● C/c: come for the purpose of exams; routine session of blood transfusion as per scheduled
● Diagnosed since the age of?
● P/w pallor; jaundice; lethargy/ reduced effort tolerance; FTT
● During the 1st admission, what investigations had been carried out? what are the results told
by the doctor? (especially Hb%), any Hb electrophoresis done?
● +ve family history (especially siblings)? Or patient was the 1 st one in the family diagnosed
with this, any family screening & genetic counselling done after that? What are the results?
● Current management plan
o Blood transfusion
▪ When they started blood transfusion?
▪ Interval? Any changes since 1st diagnosed?
▪ Pre & post transfusion Hb level? And volume transfused (how many packs)?
▪ Any episodes of transfusion reactions (Alloimmunisation - if yes, what was
the management during that time)? Wrong blood given? Any complications
(Due to Iron overload? Infections? Volume overload?)
Endocrine: growth retardation, impaired glucose intolerance, delayed
puberty, Hypo- thyroid; parathyroid & DM
Cardiac: arrhythmia, pericarditis & HF
Hepatic: liver cirrhosis (esp if with Hep B/C inf)

** The thalassemia protocol

o Iron chelating therapy
▪ Is the patient on any iron chelating agent now? If yes, which type and
dosage?
● Desferrioxamine (Desferal) – to maintain serum ferritin below 1000
μg/L
o Indications
▪ Age > 3y/o
▪ Serum ferritin > 1000 μg/L
▪ Usually after 10 – 20 transfuisons
o Dosage: 20 – 40 mg/kg/day; SC continuous infusion pump 8 –
10 hours daily for 5 – 7 nights per week & given together with
vit C (which augments iron excretion with Desferal)

● Deferiprone (L1)
o If iron chelation is inadequate with the use of Desferal
o 75 – 100 mg/kg/day in 3 divided doses
o If used in combination with Desferal, lower dose used 50
mg/kg/day
Common long cases (Paeds)
o S/E: GI disturbance, arthritis or agranulocytosis (weekly FBC
monitoring is recommended, stop if neutropenic <1500/mm3)
● Deferasirox (Exjade)
o Can be used in patient 2 years or older
o Dose: 20 – 30 mg/kg/day in liquid dispersible tablets, taken
once daily (big pill – 500 mg; small pill – 250 mg); EMPTY
stomach
o S/E: transient skin rash, GI disturbance, a reversible rise in
serum Cr level (monthly RP monitoring is needed)
● Past surgical history: Cholecystectomy? Splenectomy?
● Past medical history: Med for DM? Hypothyroidism? Hypoparathyroidism? Any vit E, Ca and
zinc supplement?
● Diet history: avoid food – red meat; iron fortified cereals & drinks – milo & milk rich in iron;
prefer to drink tea (as it decreases the intestinal absorption of iron)
● Social issue: Any financial issue (as the iron chelating agent costs a lot); how is the school
performance as every month need to be absent for a few days for blood transfusion &
active in sports or not; psychological aspect of the child (low self-esteem due to appearance
– facies & delayed puberty as compared to friends and the illness – like maybe other siblings
are normal, why him/her only…); Lastly, is parents keen for another child (if not, what is the
contraceptive method)?
● Birth history: usually uneventful with normal developmental milestone
● O/E: if patient is anemic, the pulse might be tachy and collapsing pulse might be +ve and
also finger prick scar (DM); otherwise, the patient will be pale and jaundice (or the skin
colour – sallow after chronic blood transfusion) with or without the thalassemic facies; short
stature (comment would like to plot on the growth chart)
● Abdominal examination: cholecystectomy (laparoscopy/ lapatostomy) or splenectomy scar
can be observed; hepatosplenomegaly (measure in cm; with a point over the subcostal
margin at the midclavicular line)
● And also offer to perform CVS examination
● “I would like to complete my examination by determining the pubertal stage and plot on the
chart (depends on the patient’s age)”

Management
** According to Thalassemia protocol
** Inform the parents about Thalassemia societies which provide support and education for families by
organizing thalassemia related activities and awareness campaigns

Commonly ask questions

1. What is Thalassemia?
◊ Inherited microcytic hemolytic anemia due to mutations that impair beta-chain synthesis

2. How to diagnose Thalassemia?

Common long cases (Paeds)
◊ +ve family history
◊ FBC (low Hb, MCV & MCH low, MCHC normal)
◊ PBF: microcytic hypochromic anemia picture
◊ Iron studies (as it is more common)
◊ Hb electrophoresis (showing no HbA, but increased HbA2 & HbF)
◊ Antenatal diagnosis: CVS sampling at 9 – 11 weeks of gestation

3. Inheritance pattern: autosomal recessive

4. Why hepatosplenomegaly in Thal?

◊ Extramedullary haematopoiesis

5. Complications of iron toxicity? Usual cause of death? – heart disease

6. What is hypersplenism?
◊ Defined by blood consumption volume of RBC > 1.5x Normal? > 200-220 ml/kg/year in patients >
5y/o to maintain average Hb levels

7. How to prevent hypersplenism?

◊ By giving hypertransfusion regime – which will greatly improve the chronic hypoxemic state of the
patient (which will in turn causing medullary and extramedullary haematopoiesis)

8. What is the risk the patient may face post splenectomy?

◊ Pneumococcal and meningococcal & HiB infections & thrombocytosis
◊ Pneumococcal and HiB vaccinations 4-6 weeks prior to splenectomy
◊ Meningococcal vaccine required in endemic areas
◊ Penicillin prophylaxis for life after splenectomy
◊ Low dose aspirin (75mg daily) if thrombocytosis > 800000/mm3 after splenectomy

9. Can Thal be cured?

◊ Yes, by doing bone marrow transplantation (potential curative option is when there is an HLA-
compatible sibling marrow donor)
◊ Classification of patients into Pesaro risk groups based on 3 risk factors: hepatomegaly >2cm,
irregular iron chelation and presence of liver fibrosis; Group 1 has the best prognosis
Common long cases (Paeds)
3. CEREBRAL PALSY (CP)
Presenting complaint: anything~

Current symptoms
1. Intellectual abilities/ present developmental status; current placement regarding education;
domestic situation; employment
2. Behaviour (Hyperactive, autistic); affect (depression)
3. Vision impairment
4. Speech & hearing
5. Activities of daily living (dependent/ independent)
6. Feeding & nutrition
7. Seizure
8. Mobility & skeletal problem; abnormal posturing
9. Other problems: constipation, urinary incontinence, chest infections, pressure sores

Birth history
◊ Maternal history of recurrent miscarriage
◊ Antenatal: any infections (TORCHES) ; or any problem
◊ Delivery: gestational age & birth weight, prolonged labour process; instrumental delivery, APGAR
score
◊ Postnatal: NICU? Any treatment received?

Developmental history
** Age at which milestone achieved

Family history
** familial spastic paraplegia

Management
◊ Hospital admission
◊ Usual treatment at home (Eg: suction)
◊ Frequency of therapies (Physio, OT, speech)
◊ Follow up frequency (under which Dr)

Social history
** who is the primary caretaker?
◊ Impacts on the family
◊ Financial problem
◊ Social welfare supports

Examination
Inspection: dysmorphic features; weight & height (plot on growth chart); abnormal posturing/ movement;
any intervention (NG tube, wearing diapers, orthoses); Gait (diplegic/ hemiplegic); any tendon release scar
Neurological examination: disuse wasting, UMNL
** look for complications
- Head circumference
- Vision & hearing
- Teeth (dental caries)
- Back (kyphoscoliosis)
- Auscultate chest (pneumonia)
Common long cases (Paeds)
Investigation:
1. MRI
2. TORCH infection screen including HIV (intrauterine infections)
3. Karyotyping; chromosomes testing

Management
Multidisciplinary approach
1. Under regular follow up of general paediatrician: for recurrent chest infections; management of
epilepsy; OSA; constipations
2. Physiotherapy; OT; orthoses; speech therapy
3. Management of spasticity by orthopaedician/ physiotherapist: botulinum toxin injections/ baclofen
4. Orthopaedician: correction of deformity
5. Dentist

1.What is cerebral palsy?

A static encephalopathy ; a non-progressive disorder of motion and/or posture, secondary to an insult in
the developing brain.

2.Common causes of CP?

-Intrauterine infection (TORCH), congenital brain anomaly, hypoxic ischaemic encephalopathy, perinatal
asphyxia, Intraventricular haemorrhage, neonatal hypoglycaemia, meningitis, encephalitis, severe
hyperbilirubinaemia, intracerebral trauma etc
3.Types of CP?
- spastic type: hemiplegia, diplegia (PVL) & quadriplegia (HIE)
- dyskinetic type (Kernicterus): athetosis, chorea, dystonia
- ataxic

4. Principal of management of CP
Multidisciplinary involving
-Paediatricians for overall health
-physiotherapist to prevent contractures and maintain adequate muscle power
-occupational therapist to improve function
-rehabilitation specialist to assist in mobilisation and special gadgets/aid
-Welfare services for financial assistance if needed
-orthopaedic if any tendon release procedures or spine support
-special schooling if no or no serious intellectually impairment
-treat associated conditions eg: epilepsy, constipations
Common long cases (Paeds)
EPILEPSY
History
1. Prior to the onset: any prodromal symptoms? Any aura? Triggering factor: tiredness (lack of sleep),
fever, trauma, bright light
2. Describe the episode of seizure, witnessed by who? DURATION?
3. Postictal: drowsiness, Todd’s paralysis
** past history: frequency of the epilepsy (none for 6 weeks to 6 in a day); usual time of occurrence;
status epilepticus? Management at home? Similar type? No of hospital admission, previous and current
antiepileptic medications – any changes in type/ dosage, any compliance issue, and complications of
treatment; febrile fit; ay restriction on the kid’s activities
**schooling progress!

Birth history
◊ Maternal history of recurrent miscarriage
◊ Antenatal: any infections (TORCHES) ; or any problem
◊ Delivery: gestational age & birth weight, prolonged labour process; instrumental delivery, APGAR
score
◊ Postnatal: NICU? Any treatment received?

Family history
- any seizure disorder/ CNS disorder

**elicit the parents’ understanding about this illness- prognosis, overprotectiveness, over social
restrictions

Social history
** who is the primary caretaker?
◊ Impacts on the family
◊ Any bully issue/ social isolation
◊ Financial problem
◊ Social welfare supports

Investigations
1. FBC- TRO infections
2. RBS level
3. serum Ca & Mg
4. ECG
5. EEG
6. Neuroimaging: MRI/ CT of the brain
** if 1st episode (rule out acute provoking factors is very important); need to do LP; but treatment not
indicated as it does not prevent development of epilepsy/ influence long term remission

Q1. Define epilepsy

- seizure is a paroxysmal clinical episode that results from an hypersynchronous discharge of a neurons;
epilepsy- recurrent unprovoked seizures

Q2. Types of epilepsy

Common long cases (Paeds)

Q3. What is status epilepticus?

Any seizure lasting > 30 min; intermittent seizure without gaining full consciousness in between for >30
min
** Refractory status epilepticus: seizure lasting > 60 min/ not responding to adequate dose of
benzodiazepine & 2nd line med
*** condition resulting either from (a) the failure of the mechanism responsible for seizure termination or
(b) the initiation of mechanisms which lead to abnormally prolonged seizures
4.Principal of managing Status epilepticus
-ABC
-abort the seizures by anticonvulsant e.g diazepam, phenytoin, phenobarbitone
-correct hypoglycaemia or any precipitating factors
-prevent recurrence

5. Common maintenance anticonvulsant in epilepsy?

- sodium valproate, carbamazepine, levetiracetam, clonazepam etc
Common long cases (Paeds)

MUSCULAR DYSTROPHY
History
Presenting complaints: ?

Current problems
1. Functional abilities with ADL (dressing, eating, toileting, writing); any aids required
2. Mobility (wheelchair, school and home access)
3. Any home modification
4. Scoliosis (any surgical intervention); joint contracture
5. Respiratory problems
6. Cardiac symptoms
7. School (any access problem, help provided; others’ attitudes)

Past history
Common long cases (Paeds)
1. Initial diagnosis: when, how (the presenting symptoms – late walking, tendency to fall, learning
delay, global developmental delay) **** Delay motor developmental milestone
2. What Ix done to diagnose this?
3. Stages of deterioration (like at what age can’t climb the stairs; walk; wheelchair bound)
4. Past medical history: hospital admission due to this
5. Past surgical history

Current management

Social history
1. Impact on the child (difficulties at school, body image, low self esteem, peer reactions)
2. Impact on the family (genetic implications for further children; financial consideration – wheelchair,
home modifications, transportation, hospitalisation, physical burden)
3. Supports from social welfare

Family history
Other known family members with DMD, other males with developmental delay or late walking

Understanding of the disease

Examination
- General inspection: resting posture (undressed) & muscle wasting – pseudohypertrophy of calf; either
standing/ sitting on the wheelchair; describe the wheelchair (with chest strap; head rest; tray); any sign of
respiratory distress; intelligence; ability to communicate
- Gait (if and only if patient able to walk) *foot drop (due to week tibialis anterior, inversion due to strong
tibialis posterior and weak peroneal; heels off ground partly due to tight tendon achilles); knee & hip
(tredelenberg’s gait) – overall should be wide base and waddling
- Gower’s sign!!! (ask patient to lie supine 1st, prone (cannot sit up due to weak neck flexion and spinal
flexion), on the knees, on all 4 and climbing up the legs)
- Tone, Power (proximal group) & reflexes (knee jerks often lost)
- check for contractures
- check the back (SCOLIOSIS)
- Cardiac and respi examination
- signs of steroid toxicity

Investigations
- serum CK
- EMG: reduced amplitude
- molecular testing (dystrophin)
- Muscle biopsy (necrotic muscle fibers, regeneration, replaced by fats and stroma)

Management
- Multidisciplinary approach
** optimise the nutrition- refer to dietician (but not obese as they are inactive on the wheelchair)
** Steroid might delay the progression if taken before the patient unable to walk
1. Physiotherapy to encourage walking and to prevent joint deformity; exercise for strength
2. Occupational therapy- prescribing the suitable equipment (wheelchair – manual/ powered type and etc);
advice on home modifications
3. Orthopaedic surgery: releasing the tendon achilles; scoliosis correction- spinal fusion)
Common long cases (Paeds)
4. Family education, genetic counselling (A female is defined as obligate carrier if she has an affected son +
at least one other male relative in a pedigree that corresponds to X-lined recessive inheritance; 1/3 of the
cases are NEW mutation)
5. Lung function
6. Cardiac function
7. psychological aspect (refer psychiatrist)
**NS issue: high risk of malignant hyperthermia- avoid depolarising muscle relaxants and inhalational
agents

Q1. What is DMD?

- X linked recessive disorder due to mutation (often deletions) in the dystrophin gene on the X
chromosome; DMD gene is the largest known human gene

Q2. Inheritance of Duchenne Muscular dystrophy(DMD)

Q3.How to diagnose DMD
Q4.Principal of management

SPINA BIFIDA WITH NEUROGENIC BLADDER

Presenting complaint: ??

Current problem:
- Mobility: type of aids?
- Incontinence care: urinary incontinence- intermittent catheterisation?; bowel care: laxatives, enemas?
- Education: type of schooling, prob with learning?
- developmental problem: related to age? ADL independent?

Specific medical prob

- Hydrocephalus: shunt? If yes, any prob with that?
- urinary system: infections? Operations done before? On any medications?
- Orthopaedic problem: deformity, contracture, back (scoliosis); pressure sores
- Other medical complications
- adolescence issue?

Birth history (Prenatal- intake of folic acid; antenatal- antenatal screening intrapartum: any problem?
Postnatal)
- *** family history of NTD (including anencephaly)
- diagnosis & management during that time
- complications
Social history
Impact on
- child (peer reaction, low self-esteem, poor motivation, depression)
- family (effects on siblings, finances)
- schooling (poor mobility; spent more time in hospital- missing school)
- social welfare support? Support group?

Understanding of the disease

Examination
* Please examine the back of this patient & proceed accordingly.
- tuft of hair? Closure scar? Dermal sinus?- mention about + any spinal deformities?
Common long cases (Paeds)
- proceed to LL examination: LMNL
- then offer to examine the head: HC and look for any shunt; scalp vein prominence, sunsetting eyes +
palpate any fontanelles CN examination
- examine the abdomen: VP shunt scar, illeal conduit? Palpate & percuss the bladder? Check abdominal
reflexes? Then lastly, offer to check the anus- patulous anus

Investigations: US/ MRI

** at birth (CT brain & spine stat) & also immediately post op; yearly; subsequently if patient is NORMAL
do when patient is symptomatic
Management: Multidisciplinary approach
- Physiotherapy; OT
- General paed
- Neurologist
- Nephrologist
- Orthopaedic
- Dietician
- Psychiatrist

Q1. What is spina bifida. Types?

A neural tube defect which is disrupted by maternal folate deficiency (midline defect of the vertebral
bodies with or without protrusion of the meninges and/or spinal cord)
Types: spina bifida occulta; spina bifida cystica (meningomyelocele; meningocele)

Q2.Can neural tube defect be prevented?

Yes, all women contemplating pregnancy should ingest a daily multivitamin containing 0.5 mg folic acid;
and if there is a family history of NTDs one need to be advice that 5mg is taken

Q3. Associated condition

- Hydrocephalus (especially with Arnold Chiari II malformation – Chiari crisis)
- Seizure
- Spinal deformity: kyphoscoliosis, tethered cord, syringomyelia
- Neurogenic bladder; recurrent UTI
- Constipation
- paralysis

Q4. Principal of management

BRONCHIAL ASTHMA
- cough (worse at night and early in the morning)+ wheezing+ chest tightness+ SOB

Q1. Define bronchial asthma

-Chronic reversible inflammatory airway disease due to hyperresponsiveness to external trigger/antigen
resulting in airway narrowing

Q2.What are atopic illnesses

-bronchial asthma, allergic rhinitis, atopic eczema & allergic conjunctivitis

3.How do you classify asthma control

4.How do you classify acute asthma
Common long cases (Paeds)
5.How do you manage acute severe asthma

HAEMOPHILIA
History
Birth to 4 weeks: Circumcision; bleeding from heel pricking site; ICH
4 – 6 mths: IM injection haematoma; SC ecchymoses
6 – 24 months: Gingival haemorrhage when teething; oral mucosa bleeding; joint ecchymoses
Later in life: haemearthrosis
● Initial presenting symptoms; diagnosis; management received
● Complications?
● Require any F8 infusion?
● Current status: avg no of bleeds per year? Common sites involved? Precipitants (sports)?
Any prophylaxis/ protective measures?
● Ongoing symptoms of joint disease
● Management of bleeds at home; school…

Social history
Impact on patient: as unable to involve in sports; self-image; any schooling problem
On parents/ family: working; financial
Social supports?

Family history

Immunisation

Examination

Investigation

● FBC (Hb)
● Coagulation profile: PT; APTT

● Serum F8/9 level

● Severe <1%
● Moderate 1 – 5%
● Mild >5% (5 – 25%)
● Infectious screening

Management
● Family education (educate when acute bleeding- RICE); immunisation can be given (through SC
route)
● Genetic counselling
● Advice on prophylaxis when dental procedure; operation/ advice on good oral hygiene
● Weight reduction if overweight; refer dietician
● Prophylaxis: commence after 1st large joint bleeding; ICH; severe IM bleeding/ before 3 y/o
whichever come 1st
o High dose prophylaxis: Haemophilia A: 25-35 U/kg EOD or 3x/wk; B: 40-60 U/kg every 2-3
days
o Intermediate dose prophylaxis
Common long cases (Paeds)
o Low dose prophylaxis
** but too expensive
● Management on chronic problem
o Neurological sequelae (due to ICH)- anticonvulsant, physiotherapy, OT, under neurologist
regular follow up
o Joint problem: physiotherapy; Total joint replacement
● Management of acute bleeding
o RICE; Immobilise
o On demand treatment: when clotting factors inadequate- use F8 concentrate (depends on
the type & severity of bleeding); (%required x wt in kg x 0.5 for Haemophilia A; 1.4 for B)
** FFP/ cryoprecipitate IDEALLY should not be given due to high risk of viral transmission
o Analgesics

Q1. What is Haemophilia A? What other type of haemophilia do you know of? Q2.Inheretance
- Factor 8 deficiency; X-linked recessive;Haemophilia B (F9 deficincy)

Q3.Pathophysiology of bleeding

Q4.What is target joint

Knee -> elbow -> ankle -> shoulder

Q5.Principal of management of haemarthrosis

● RICE; immobilised
● Analgesics
● Infusion of F8 concentrate
● Physiotherapy

Q6. Complications
● Joint destruction
● Virus infections
● Inhibitors- antibodies directed against the exogenous F8 which neutralising the clotting activity
** to treat this, “BYPASSING” the deficient factors by using rFVIIa or aPcc (suspect this when poor
response to replacement therapy or increase bleeding episodes despite adequate treatment)

** Circumcision is PWH is considered life threatening ; hence it’s not obligatory

** All injectable vaccine should give through SC route
** Haematuria patient should not be given antifibrinolytics (tranexamic acid) will cause clots in tubules
which cannot be recanalize
VON WILLEBRAND DISEASE
Investigation: Normal PT; N/ Prolonged aPTT; N/ reduced platelets

Management
Type 1: Desmopressin (which increases the amount of circulating vWF by release from circulation)
Type 2 & 3: vWF concentrates
** all types of vWD + mucosal bleeding: can use antifibrinolytic (tranexamic acid)

Q1. What is vWD? How many types do you know?

- the most common inherited bleeding disorder; caused by a defect in vMF (it serves to tether platelets to
injured subendothelium via bleeding sites for platelets and for collagen; as a carrier for F8 protecting it
from degradation)
Common long cases (Paeds)
- Type 1: quantitatively reduced; but not absent (Mucosal bleeding: epistaxis, menorrhagia as well as easy
bruising and potentially surgical bleeding)
- Type 2: qualitatively abnormal;
- Type 3: ABSENT (most severe form)

Q2. Inheritance
AD > AR

Q3. Pathophysiology of bleeding

Q4. Principal of managing bleeding

CHRONIC IMMUNE THROMBOCYTOPAENIC PURPURA (Chronic ITP)

** Previously healthy 1 – 4 years old child (M=F) who has a sudden onset of generalised petechiae &
purpura + maybe gum bleeding + lab ix showed thrombocytopenia (<10 x10^9 /L)
** preceding viral infections

Q1. Define acute ITP? When do you label as Chronic ITP

- an autoimmune disorder characterised by autoantibody mediated immunologic destruction of normal
platelets (mainly in the spleen) in response to unknown stimulus; persistent thrombocytopenia for more
than 6 months of onset

Q2.What are the causes of Acute ITP

- 1 – 4 weeks after exposure to viral infections (EBV)
- HIV

Q3. Differential diagnosis of thrombocytopenia

Leukemia (anemia, splenomegaly, lymphadenopathy)

Q4. Management of Acute ITP

** might remit spontaneously
** consider admission if
- Severer life-threatening bleeding (ICH) regardless the plt count
- Plt < 20x10^9/L with evidence of bleeding
- Plt < 20x10^9/L without bleeding but with poor access to health care
** advice on protection; avoid contact sports; seek medical help when significant bleeding
** avoid aspirin/ NSAIDs
*** Choice of treatment
- Oral prednisolone 2mg/kg/day for 14 days then taper over 5 days (regardless of the
response)
- IVIg 0.8 g/kg/dose for a single dose (S/E: fever, flushing, headache, nausea, aseptic
meningitis)
** ICH: risk higher in those with plt < 20x10^9/L with history of head trauma, aspirin use and presence of
cerebral AVM
** Emergency tx with severe bleeding: IV methylprednisolone 30mg/kg/day for 3 days; IVIg 0.8g/kg/dose –
1.0g/kg/dose as a single dose (1 bottle= 1g)
*** combine these 2 in life-threatening conditions; platelet infusion/ splenectomy

RHEUMATIC HEART DISEASE (RHD)

1. What is the common cause of RHD: Group A beta haemolytic streptococcus

2. How do you diagnose Acute Rheumatic fever

Common long cases (Paeds)
Jones criteria (2 major; 1+2)
FBC, ESR, CRP; Throat swab; ASOT; Blood c+s; ECG

3.Common valve affected MITRAL

4.How to prevent recurrence of rheumatic fever

5.How long to use penicillin prophylaxis
Treatment
● Bed rest (ESR & CRP normalized)
● Antistreptococcal therapy: IV Penicillin 50000 U/kg/dose 6 hourly; Oral Pen/ Erythromycin for 10
days
● Antiinflammation
o No/ mild carditis: oral aspirin for 2-4 weeks
o Moderal – severe carditis; pericarditis: Oral prednisolone 1 st then taper with additional oral
aspirin
o Antifailure drug
● Secondary prophylaxis
o IM Benzathine penicillin 0.6 mU (<30kg); 1.2 mU (>30kg) every 3 – 4 weeks; oral Penicillin V
250g twice daily; oral erythromycin 250 mg twice daily
o Duration: until 21 y/o; 5 years after last attack of ARF whoever longer; lifelong for those with
carditis & valvular involvement