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Short cases for Final MBBS
All Rights Reserved From Dr R.M
Mudiyanse
Dr Rasnayaka M Mudiyanse
Department of Paediatrics,
Faculty of Medicine,
University of Peradeniya
Possible short cases
• Examine a system
– CVS
– RS
– Abdomen
• Examine CNS
– Lower limbs
– Cranial nerves
• Examine a child
All Rights Reserved From Dr R.M
Mudiyanse
• Development assessment
• Evaluate growth
• Examine
– Face
– Leg
– Limbs
• Observe walking
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Mudiyanse
CVS
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Mudiyanse
2
Examine CVS
Common cases
• VSD
• Fallots tetrology
• PDA
• Complex heart diseases
• PS
• AS
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Mudiyanse
Objectives of Examining CVS
1. Recognize the anomaly ( structural or functional)
2. Size/extent of the structural anomaly
3. Complications
1. Evidence of pulmonary hypertension
2. Cardiomegaly
3. Evidence of heart failure
4. Effecton growth and development
4. Associations
5. Cause of the CHD (etiology)
6. Evidence of interventions
All Rights Reserved From Dr R.M
Mudiyanse
Recognize the anomaly ( structural or
functional)
• Cyanotic heart disease
– T
– T
– T
– T
– T
– Critical pulmonary
stenosis
– Complex heart disease
– Shunt reversal
• Acyanotic Heart disease
– ASD
– VSD
– PDA
– PS
– AS
– Coarctation
– Peripheral pulmonary
artery stenosis
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Mudiyanse
How to recognize the structural
anomaly
• VSD
– PSM +/- palpable thrill at lower left sternal edge
• Fallot’s tetralogy
– Cyanotic heart disease
– Ht Murmur over the pulmonary area
– No cardiomegaly
– P2 not loud
– Oligaemic lung field
• PS
– ESM murmur over the pulmonary area
– Soft P2
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Mudiyanse
3
How to recognize the structural
anomaly
• ASD
– Split second sound ( fixed)
– SM over the PA
• PDA
– Machinery M or a long SM slightly lateral to PA
– Radiate to back
– Bounding pulse
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Mudiyanse
Complications
• Pulmonary hypertension
• Cardiomegaly
• Ventricular hypertrophy (R & L)
• Heart failure
• Failure to Thrive
• Growth failure
• Shunt reversal
• Bacterial endocarditis
• Embolic phenomena
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Mudiyanse
Evidence of Pulmonary Hypertension
• Loud P2
• Palpable P2
• Evidence of RVH
– Para sternal heave ( RVH)
– ECG
• Prominent R in R chest leads
• Deep S in L chest leads
• RAD
• Peaked P waves ( R Atrial hypertrophy)
• CXR – Peripherals pruning
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Mudiyanse
Evidence of Heart Failure
• Tachycardia
• Gallop rhythm
• Tachypnea
• Cradiomegaly
• Hepatomegaly
• Rapid weight gain
• Lung crepitations
• FTT
• Edema
• Sweating while
feeding
• SOB on feeding
All Rights Reserved From Dr R.M
Mudiyanse
4
Effect on Growth
• FTT
– Current weight centile
– Growth pattern
• Flattening
• Crossing centile
• Growth failure – short stature - Chronic disease
• Why do they get FTT
– Increased BMR due to sympatheticover activity
– Difficulties in feeding and frequent vomiting
– Recurrent chest infections
– Associatedconditions
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Mudiyanse
Cause of the CHD
• Syndrome
– Downs
– Turners/Noonas
– Digeorge syndrome/ Velocardio facial syndrome
– Others
• Associations
– VACTARAL
– CATCH
– ..
• Congenital infections
– Rubella
– Toxoplasma
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Mudiyanse
Reason for Tachypnea
? HF or RTI
• HF
– Rapid shallow breathing
– Not much effort of breathing
– Fine crepitation ( not course)
– Other evidence of HF
• RTI
– Effort of breathing – recessions and noises
– Fever
– Corse creps
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Mudiyanse
Reason for FTT
• Feeding
• Recurrent RTI
• HF ( sympathetic over activity  Increased BMR)
• Other
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Mudiyanse
5
Size and extend of the lesion
• Any complications suggest large lesion
• Apical mid diastolic murmur in VSD or ASD
Intensity of the Heart murmur does not correlate
with size of the lesion. Loud murmur does not
mean that the lesion is small or large
All Rights Reserved From Dr R.M
Mudiyanse
Try to give a comprehensive diagnosis
• Large VSD or AV canal defect with pulmonary
hypertension and failure to thrive in a child
with trisomy 21, probably he has LRTI also.
• Complex cyanotic heart disease with growth
failure probably has had an embolism in the
brain.
• This syndromic child has tetrolgy of fallout
seems to be uncomplicated. Growth and
development seem satisfactory.
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Mudiyanse
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Mudiyanse
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Mudiyanse
6
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Mudiyanse
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Mudiyanse
What investigations
• ECG
– Axis
– Ventricular hypertrophy
• CXR
• Echo
• Catheterization
• Angiography
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Mudiyanse
How do you manage
• Treat the acute problem
• Plan for surgery
• Attend to nutrition
• Provide routine care
• Follow up and monitoring
• Social, economical and psychological support
• Attend to dental caries
All Rights Reserved From Dr R.M
Mudiyanse
7
Presentation of the case
1. This 3 year old boy with trisomy 21 has a large
VSD complicated by pulmonary hypertension
and heat failure. His growth seem inadequate
and currently he has a chest infection.
2. This 8 year old girl has a cyanotic heart disease
with evidence of cardiomegaly.Her P2 is loud,
growth is inadequate.She has some dimorphic
feature that does not fit in to a diagnosis.
All Rights Reserved From Dr R.M
Mudiyanse
RS
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Mudiyanse
Examine the Respiratory System
Common cases
• Bronchial asthma
• LRTI
• Bronchiolitis
• Pneumonia
• Pleural effusion
• Upper airway obstructions ( Croup, Congenital
laryngomalacia)
All Rights Reserved From Dr R.M
Mudiyanse
Objectives
• What is the pathology/diagnosis
• What is the severity
• Acute or chronic
• Associated problems
– FTT
– CHD
– Other
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Mudiyanse
8
What is the Pathology
• Upper air way – Stridor
• Lower airway – inspection, palpation, percussion, auscultation
– Diffuse – Bilateral signs
– Localized – Lobar pneumonia
• Pleural effusions
• Pus or other effusions
• Systemic pathology
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Mudiyanse
What is the diagnosis
• Bronchiolitis
– Infantor young child
– Bilateral diffuse crepes +/- rhonchi
– Hyperinflation
– Look for associatedCHD,FTT
• LRTI
• Bronchial Asthma
• Pneumonia
• Pleural effusions
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Mudiyanse
Lobar Pneumonia or Pleural effusion
• Pleural effusion
– Stony dull on percussion
– Reduced breath sounds
– Tracheal deviation to opposite side
– Evidence of aspirations
• Lobar pneumonia
– Dull on percussion
– BB
– No tracheal deviations
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Mudiyanse
What is the severity
• Effort
– RR
– Recessions
– Accessorymuscles
– Noises – grunting, rhonchi, creps and striodr
• Efficacy
– Chest expansion
– Saturation
• Effects
– CNS – drowsiness
– CVS – Cyanosis/pallor
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Mudiyanse
9
How to recognize sever asthma
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Mudiyanse
How to recognize
life threatening asthma
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Mudiyanse
Try to give a comprehensive diagnosis
• Moderately severe bronchiolitis in a child with
failure to thrive.
• Bronchial asthma – with mild distress in a
child with persistent asthma who has an
eczema as well
• Pleural effusion with some respiratory distress
probably a child recovering from DHF
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Mudiyanse
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Mudiyanse
10
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Mudiyanse
Investigations
• CXR – only when indicated
• US scan – For effusions
• FBC
• CRP
• Sputum
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Mudiyanse
How do you manage?
• Acute problem
– Depends on severity
• Long term care
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Mudiyanse
Abdomen
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Mudiyanse
11
Examine the abdomen
possible cases
• Massive hepatospleenomegaly ( ? Thal)
• Small hepatospleenomegaly
• Only liver or spleen
• Ascites
• Renal lumps
• Pelvic lumps
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Mudiyanse
Massive hepato-spleenomegaly
• Transfusion dependent anemia
– Thalassemia – beta or E beta
– Aplastic anemia
– Heraditory spherocytosis
– Dyserythropoitic anemia
• Gouaches disease
• Osteopetrosis
• .
• .
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Mudiyanse
Massive hepato-spleenomegaly
? Transfusion dependent anemia
• Objectives to achieve are to assess
– Adequacy of blood transfusions
– Type of chelation – Injection marks
– Adequacy of chelation
– ? Spleenectomy
– Complications
• Cardiac
• Endocrine
• Hepatic
• Other
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Mudiyanse
Adequacy of Blood Transfusion
• Inadequate blood transfusion result in
– Growth failure
– Bony deformities
– Spleenomegaly or early spleenectomy
• Transfusion records will confirm it
– Pre transfusion will be below Hb 9-10 gr/dl
frequently
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Mudiyanse
12
Chelation – Adequacy
• Inadequate chelation is suggested by
– Pigmentations
– Complications
• Cardiac
• Growth
• Pubertal delay
• Diabetes Mellitus
• Hypocalcaemia
• Hypothyroidism
• Treatmenthistory – dose and frequency and duration
of infusion
• Serum ferritin level
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Mudiyanse
Complications of transfusion
dependent anemia
• HF
– Early heat failure may be asymptomatic
– MRI t2*/Muga scan
• Short stature
• FTT
• Sexual maturity - Tanner stage
• Diabetes mellitus
• Phypoparathyroidism
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Mudiyanse
Reasons for Short Stature
• Chronic anaemia
• Nutritional
• Poor socioeconomic conditions
• Endocrine – Growth, thyroid, adrenal, gonadal
hormone function
• Recurrent infections
• Chelaters
• Zinc deficiency
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Mudiyanse
Reasons for jaundice in thalassemia
patients
• Hemolysis
• Liver involvement – iron toxicity or infections
• Gallstones
• Coinheritance of Gilberts
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Mudiyanse
13
What investigations
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Mudiyanse
How are going to manage
• Evaluate the current management
• Find out the problems
– Blood transfusion
– Chelation
– Psychosocial problems
– Complications
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Mudiyanse
Small liver +/- spleen
Be able to demonstrate
• DD
– Viral fever/IMN – Fever, skin rashes, palatal
hemorrhages
– Hepatitis
– Early hemolytic anaemia – Pallor, jaundice
– Typhoid
– Leukemia – pallor, pateche, LN, bone tenderness
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Mudiyanse
Spleen or Kidney
• Spleen
– Has its shape and notch
– Can not feel the upper border
– Direction of enlargement is towrads RIF
– No band of resonance over the lump
– Lump is not balatoble
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Mudiyanse
14
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Mudiyanse
Ascites
• What clinical features
– Flank dullness
– Shifting dullness – be able to demonstrate
• Causes
– Nephrotic syndrome
– CRF
– Liver failure
– Malnutrition
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Mudiyanse
Ascites – how to investigate
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Mudiyanse
Examine Lower Limb
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Mudiyanse
15
Examine lower limb
Possible short cases
• Duchene muscular dystrophy
• CP – Diplegia, hemiplegia, quadriplegia
• Gullian barre
• Rickets
• Other deformities
Adequate exposure and get the child to walk
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Mudiyanse
Approach to
‘examination of lower limb’
• Functional of structural – inspection while
walking
• If functional
– UMN – hypertonia, clonus, hyper reflexia, up
going plantor
– LMN- hypotonia, hypo-reflexia, fasciculation
– Due to structural
• If structural – Bone, muscle or skin
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Mudiyanse
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Mudiyanse
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Mudiyanse
16
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Mudiyanse
DMD
• Calf muscle hyper trophy
• Demonstrate the weakness
• Look for cardiac involvement
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Mudiyanse
Guillain-Barre
• Grade muscle power
• Hypotonic
• Areflaxia
• No sensory level
• Bladder not involved
• Check upper limb
• Check cranial nerves
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Mudiyanse
CP
• Grade the severity
• Anatomical diagnosis
– Quadriplegic
– Hemiplegic
– Monoplagic
– Ataxic
– Chorio athetoid
• Complications
• Associated problems
• Cause
All Rights Reserved From Dr R.M
Mudiyanse
17
Development delay
• Describe the best ability and least disability
• Global or specific delay
• The cause
– CNS
– Peripheral nerves
– Muscles
– Other
• Complications – FTT, contractures, care …
All Rights Reserved From Dr R.M
Mudiyanse
Objectives
• What is the diagnosis/ likely diagnoses
• Impact on the child
• Complications
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Mudiyanse
Examine a region
• Inspection
• Palpation
• Percussion
• Auscultation
• What is the
– anatomical diagnosis
– Pathological diagnosis
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Mudiyanse
Child with Petechial Hemorrhages
• ITP
• Leukemia
• Aplastic anaemia
• Thrombocytopenia
– Dengue
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Mudiyanse
18
Child with Echymosis
• Bleeding disorders
• ITP
• Leukemia
• Aplastic anaemia
• Thrombocytopenia
– Dengue
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Mudiyanse
Could this be ALL
• Ill looking
• Bony tenderness
• Pallor
• Lymphadenopathy
• Splenomegaly
• FBC
– Abnormal cells
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Mudiyanse
New Born Baby
• Good bed side manners
• Confirm normal – Wt, OFC, length
• Head to toe examination (total examination)
– Hips
– Spine
– Perineum
• Detect minor anomalies
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Mudiyanse
Down syndrome
• Comment about mothers age
• Establish it is downs syndrome
• Assess
– Development & IQ (give a positive comment)
– Growth
– Cardiac involvement
– Hypothyroidism
– Evidence of gut surgery
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Mudiyanse
19
Place for chromosomal analysis
• Non dysjunction
• Translocation
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Mudiyanse
Examine the Face
• Facial palsy
• Cranial nerve palsy
• Dysmorphic features
– Downs syndrome
– Sturge weber
– Other syndrome
• Don’t miss obvious micro/macro-cephaly
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Mudiyanse
Facial Palsy
• Observe all the clinical features
• Is it upper motor or lower motor
• Severity and complications
• What is the cause
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Mudiyanse
Facial Palsy
• Observe all the clinical features
– Absent or asymatrical naso-labial folds
– Mouth Deviation
– Closing eyes
– Blowing the mouth
– Drooling saliva
– Bells sign
• Is it upper motor or lower motor
– Upper motor – only the lower half is affected
– Lower motor – both upper and lower half affected
All Rights Reserved From Dr R.M
Mudiyanse
20
Facial Palsy
• Severity and complications
– Exposurekeratitis
– Drooling of saliva
– Depression
• What is the cause
– Bells palsy
– Ramsey-hunt – blisters in the external ear
– Brain stem tumors
• Cerebeller signs
• Other cranial nerves
• Long tract signs
All Rights Reserved From Dr R.M
Mudiyanse
Rickets
• Observe all the clinical features of rickets
– Head – fontal bossing, cross bun appearance
– Chest – rickety rosary, Harrison sulcus
– Limbs – widening of wrists and ankle, bowing
– General - hypotonia
• Anthropometric measurements
• What is the cause
– Nutritional
– Renal
– Hypophospatemic
All Rights Reserved From Dr R.M
Mudiyanse
Comment about the X ray
• Widening
• Fraying
• Splaying
• Cupping
• Osteopenia
• Micro fractures
All Rights Reserved From Dr R.M
Mudiyanse
Investigations for rickets
• Alkaline phosphate – Increase in all forms of
rickets + some forms of metaphysial dysplasia)
• Serum calcium – low in hypocalceamic rickets (
but can be normal deu to PHT activity they will
have increased aa in urine)
• Serum phosphate – Low in hypophosphatemic
rickets ( increased 24 hr PO4 excretion)
• Renal functions – Renal rickets
• Urinary aa and sugar – Fanconi associated rickets
• Hypo K hyper Cl acidosis - RTA
All Rights Reserved From Dr R.M
Mudiyanse

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Short cases for final year MBBS Medical Student in Sri Lanka

  • 1. 1 Short cases for Final MBBS All Rights Reserved From Dr R.M Mudiyanse Dr Rasnayaka M Mudiyanse Department of Paediatrics, Faculty of Medicine, University of Peradeniya Possible short cases • Examine a system – CVS – RS – Abdomen • Examine CNS – Lower limbs – Cranial nerves • Examine a child All Rights Reserved From Dr R.M Mudiyanse • Development assessment • Evaluate growth • Examine – Face – Leg – Limbs • Observe walking All Rights Reserved From Dr R.M Mudiyanse CVS All Rights Reserved From Dr R.M Mudiyanse
  • 2. 2 Examine CVS Common cases • VSD • Fallots tetrology • PDA • Complex heart diseases • PS • AS All Rights Reserved From Dr R.M Mudiyanse Objectives of Examining CVS 1. Recognize the anomaly ( structural or functional) 2. Size/extent of the structural anomaly 3. Complications 1. Evidence of pulmonary hypertension 2. Cardiomegaly 3. Evidence of heart failure 4. Effecton growth and development 4. Associations 5. Cause of the CHD (etiology) 6. Evidence of interventions All Rights Reserved From Dr R.M Mudiyanse Recognize the anomaly ( structural or functional) • Cyanotic heart disease – T – T – T – T – T – Critical pulmonary stenosis – Complex heart disease – Shunt reversal • Acyanotic Heart disease – ASD – VSD – PDA – PS – AS – Coarctation – Peripheral pulmonary artery stenosis All Rights Reserved From Dr R.M Mudiyanse How to recognize the structural anomaly • VSD – PSM +/- palpable thrill at lower left sternal edge • Fallot’s tetralogy – Cyanotic heart disease – Ht Murmur over the pulmonary area – No cardiomegaly – P2 not loud – Oligaemic lung field • PS – ESM murmur over the pulmonary area – Soft P2 All Rights Reserved From Dr R.M Mudiyanse
  • 3. 3 How to recognize the structural anomaly • ASD – Split second sound ( fixed) – SM over the PA • PDA – Machinery M or a long SM slightly lateral to PA – Radiate to back – Bounding pulse All Rights Reserved From Dr R.M Mudiyanse Complications • Pulmonary hypertension • Cardiomegaly • Ventricular hypertrophy (R & L) • Heart failure • Failure to Thrive • Growth failure • Shunt reversal • Bacterial endocarditis • Embolic phenomena All Rights Reserved From Dr R.M Mudiyanse Evidence of Pulmonary Hypertension • Loud P2 • Palpable P2 • Evidence of RVH – Para sternal heave ( RVH) – ECG • Prominent R in R chest leads • Deep S in L chest leads • RAD • Peaked P waves ( R Atrial hypertrophy) • CXR – Peripherals pruning All Rights Reserved From Dr R.M Mudiyanse Evidence of Heart Failure • Tachycardia • Gallop rhythm • Tachypnea • Cradiomegaly • Hepatomegaly • Rapid weight gain • Lung crepitations • FTT • Edema • Sweating while feeding • SOB on feeding All Rights Reserved From Dr R.M Mudiyanse
  • 4. 4 Effect on Growth • FTT – Current weight centile – Growth pattern • Flattening • Crossing centile • Growth failure – short stature - Chronic disease • Why do they get FTT – Increased BMR due to sympatheticover activity – Difficulties in feeding and frequent vomiting – Recurrent chest infections – Associatedconditions All Rights Reserved From Dr R.M Mudiyanse Cause of the CHD • Syndrome – Downs – Turners/Noonas – Digeorge syndrome/ Velocardio facial syndrome – Others • Associations – VACTARAL – CATCH – .. • Congenital infections – Rubella – Toxoplasma All Rights Reserved From Dr R.M Mudiyanse Reason for Tachypnea ? HF or RTI • HF – Rapid shallow breathing – Not much effort of breathing – Fine crepitation ( not course) – Other evidence of HF • RTI – Effort of breathing – recessions and noises – Fever – Corse creps All Rights Reserved From Dr R.M Mudiyanse Reason for FTT • Feeding • Recurrent RTI • HF ( sympathetic over activity  Increased BMR) • Other All Rights Reserved From Dr R.M Mudiyanse
  • 5. 5 Size and extend of the lesion • Any complications suggest large lesion • Apical mid diastolic murmur in VSD or ASD Intensity of the Heart murmur does not correlate with size of the lesion. Loud murmur does not mean that the lesion is small or large All Rights Reserved From Dr R.M Mudiyanse Try to give a comprehensive diagnosis • Large VSD or AV canal defect with pulmonary hypertension and failure to thrive in a child with trisomy 21, probably he has LRTI also. • Complex cyanotic heart disease with growth failure probably has had an embolism in the brain. • This syndromic child has tetrolgy of fallout seems to be uncomplicated. Growth and development seem satisfactory. All Rights Reserved From Dr R.M Mudiyanse All Rights Reserved From Dr R.M Mudiyanse All Rights Reserved From Dr R.M Mudiyanse
  • 6. 6 All Rights Reserved From Dr R.M Mudiyanse All Rights Reserved From Dr R.M Mudiyanse What investigations • ECG – Axis – Ventricular hypertrophy • CXR • Echo • Catheterization • Angiography All Rights Reserved From Dr R.M Mudiyanse How do you manage • Treat the acute problem • Plan for surgery • Attend to nutrition • Provide routine care • Follow up and monitoring • Social, economical and psychological support • Attend to dental caries All Rights Reserved From Dr R.M Mudiyanse
  • 7. 7 Presentation of the case 1. This 3 year old boy with trisomy 21 has a large VSD complicated by pulmonary hypertension and heat failure. His growth seem inadequate and currently he has a chest infection. 2. This 8 year old girl has a cyanotic heart disease with evidence of cardiomegaly.Her P2 is loud, growth is inadequate.She has some dimorphic feature that does not fit in to a diagnosis. All Rights Reserved From Dr R.M Mudiyanse RS All Rights Reserved From Dr R.M Mudiyanse Examine the Respiratory System Common cases • Bronchial asthma • LRTI • Bronchiolitis • Pneumonia • Pleural effusion • Upper airway obstructions ( Croup, Congenital laryngomalacia) All Rights Reserved From Dr R.M Mudiyanse Objectives • What is the pathology/diagnosis • What is the severity • Acute or chronic • Associated problems – FTT – CHD – Other All Rights Reserved From Dr R.M Mudiyanse
  • 8. 8 What is the Pathology • Upper air way – Stridor • Lower airway – inspection, palpation, percussion, auscultation – Diffuse – Bilateral signs – Localized – Lobar pneumonia • Pleural effusions • Pus or other effusions • Systemic pathology All Rights Reserved From Dr R.M Mudiyanse What is the diagnosis • Bronchiolitis – Infantor young child – Bilateral diffuse crepes +/- rhonchi – Hyperinflation – Look for associatedCHD,FTT • LRTI • Bronchial Asthma • Pneumonia • Pleural effusions All Rights Reserved From Dr R.M Mudiyanse Lobar Pneumonia or Pleural effusion • Pleural effusion – Stony dull on percussion – Reduced breath sounds – Tracheal deviation to opposite side – Evidence of aspirations • Lobar pneumonia – Dull on percussion – BB – No tracheal deviations All Rights Reserved From Dr R.M Mudiyanse What is the severity • Effort – RR – Recessions – Accessorymuscles – Noises – grunting, rhonchi, creps and striodr • Efficacy – Chest expansion – Saturation • Effects – CNS – drowsiness – CVS – Cyanosis/pallor All Rights Reserved From Dr R.M Mudiyanse
  • 9. 9 How to recognize sever asthma All Rights Reserved From Dr R.M Mudiyanse How to recognize life threatening asthma All Rights Reserved From Dr R.M Mudiyanse Try to give a comprehensive diagnosis • Moderately severe bronchiolitis in a child with failure to thrive. • Bronchial asthma – with mild distress in a child with persistent asthma who has an eczema as well • Pleural effusion with some respiratory distress probably a child recovering from DHF All Rights Reserved From Dr R.M Mudiyanse All Rights Reserved From Dr R.M Mudiyanse
  • 10. 10 All Rights Reserved From Dr R.M Mudiyanse Investigations • CXR – only when indicated • US scan – For effusions • FBC • CRP • Sputum All Rights Reserved From Dr R.M Mudiyanse How do you manage? • Acute problem – Depends on severity • Long term care All Rights Reserved From Dr R.M Mudiyanse Abdomen All Rights Reserved From Dr R.M Mudiyanse
  • 11. 11 Examine the abdomen possible cases • Massive hepatospleenomegaly ( ? Thal) • Small hepatospleenomegaly • Only liver or spleen • Ascites • Renal lumps • Pelvic lumps All Rights Reserved From Dr R.M Mudiyanse Massive hepato-spleenomegaly • Transfusion dependent anemia – Thalassemia – beta or E beta – Aplastic anemia – Heraditory spherocytosis – Dyserythropoitic anemia • Gouaches disease • Osteopetrosis • . • . All Rights Reserved From Dr R.M Mudiyanse Massive hepato-spleenomegaly ? Transfusion dependent anemia • Objectives to achieve are to assess – Adequacy of blood transfusions – Type of chelation – Injection marks – Adequacy of chelation – ? Spleenectomy – Complications • Cardiac • Endocrine • Hepatic • Other All Rights Reserved From Dr R.M Mudiyanse Adequacy of Blood Transfusion • Inadequate blood transfusion result in – Growth failure – Bony deformities – Spleenomegaly or early spleenectomy • Transfusion records will confirm it – Pre transfusion will be below Hb 9-10 gr/dl frequently All Rights Reserved From Dr R.M Mudiyanse
  • 12. 12 Chelation – Adequacy • Inadequate chelation is suggested by – Pigmentations – Complications • Cardiac • Growth • Pubertal delay • Diabetes Mellitus • Hypocalcaemia • Hypothyroidism • Treatmenthistory – dose and frequency and duration of infusion • Serum ferritin level All Rights Reserved From Dr R.M Mudiyanse Complications of transfusion dependent anemia • HF – Early heat failure may be asymptomatic – MRI t2*/Muga scan • Short stature • FTT • Sexual maturity - Tanner stage • Diabetes mellitus • Phypoparathyroidism All Rights Reserved From Dr R.M Mudiyanse Reasons for Short Stature • Chronic anaemia • Nutritional • Poor socioeconomic conditions • Endocrine – Growth, thyroid, adrenal, gonadal hormone function • Recurrent infections • Chelaters • Zinc deficiency All Rights Reserved From Dr R.M Mudiyanse Reasons for jaundice in thalassemia patients • Hemolysis • Liver involvement – iron toxicity or infections • Gallstones • Coinheritance of Gilberts All Rights Reserved From Dr R.M Mudiyanse
  • 13. 13 What investigations All Rights Reserved From Dr R.M Mudiyanse How are going to manage • Evaluate the current management • Find out the problems – Blood transfusion – Chelation – Psychosocial problems – Complications All Rights Reserved From Dr R.M Mudiyanse Small liver +/- spleen Be able to demonstrate • DD – Viral fever/IMN – Fever, skin rashes, palatal hemorrhages – Hepatitis – Early hemolytic anaemia – Pallor, jaundice – Typhoid – Leukemia – pallor, pateche, LN, bone tenderness All Rights Reserved From Dr R.M Mudiyanse Spleen or Kidney • Spleen – Has its shape and notch – Can not feel the upper border – Direction of enlargement is towrads RIF – No band of resonance over the lump – Lump is not balatoble All Rights Reserved From Dr R.M Mudiyanse
  • 14. 14 All Rights Reserved From Dr R.M Mudiyanse Ascites • What clinical features – Flank dullness – Shifting dullness – be able to demonstrate • Causes – Nephrotic syndrome – CRF – Liver failure – Malnutrition All Rights Reserved From Dr R.M Mudiyanse Ascites – how to investigate All Rights Reserved From Dr R.M Mudiyanse Examine Lower Limb All Rights Reserved From Dr R.M Mudiyanse
  • 15. 15 Examine lower limb Possible short cases • Duchene muscular dystrophy • CP – Diplegia, hemiplegia, quadriplegia • Gullian barre • Rickets • Other deformities Adequate exposure and get the child to walk All Rights Reserved From Dr R.M Mudiyanse Approach to ‘examination of lower limb’ • Functional of structural – inspection while walking • If functional – UMN – hypertonia, clonus, hyper reflexia, up going plantor – LMN- hypotonia, hypo-reflexia, fasciculation – Due to structural • If structural – Bone, muscle or skin All Rights Reserved From Dr R.M Mudiyanse All Rights Reserved From Dr R.M Mudiyanse All Rights Reserved From Dr R.M Mudiyanse
  • 16. 16 All Rights Reserved From Dr R.M Mudiyanse DMD • Calf muscle hyper trophy • Demonstrate the weakness • Look for cardiac involvement All Rights Reserved From Dr R.M Mudiyanse Guillain-Barre • Grade muscle power • Hypotonic • Areflaxia • No sensory level • Bladder not involved • Check upper limb • Check cranial nerves All Rights Reserved From Dr R.M Mudiyanse CP • Grade the severity • Anatomical diagnosis – Quadriplegic – Hemiplegic – Monoplagic – Ataxic – Chorio athetoid • Complications • Associated problems • Cause All Rights Reserved From Dr R.M Mudiyanse
  • 17. 17 Development delay • Describe the best ability and least disability • Global or specific delay • The cause – CNS – Peripheral nerves – Muscles – Other • Complications – FTT, contractures, care … All Rights Reserved From Dr R.M Mudiyanse Objectives • What is the diagnosis/ likely diagnoses • Impact on the child • Complications All Rights Reserved From Dr R.M Mudiyanse Examine a region • Inspection • Palpation • Percussion • Auscultation • What is the – anatomical diagnosis – Pathological diagnosis All Rights Reserved From Dr R.M Mudiyanse Child with Petechial Hemorrhages • ITP • Leukemia • Aplastic anaemia • Thrombocytopenia – Dengue All Rights Reserved From Dr R.M Mudiyanse
  • 18. 18 Child with Echymosis • Bleeding disorders • ITP • Leukemia • Aplastic anaemia • Thrombocytopenia – Dengue All Rights Reserved From Dr R.M Mudiyanse Could this be ALL • Ill looking • Bony tenderness • Pallor • Lymphadenopathy • Splenomegaly • FBC – Abnormal cells All Rights Reserved From Dr R.M Mudiyanse New Born Baby • Good bed side manners • Confirm normal – Wt, OFC, length • Head to toe examination (total examination) – Hips – Spine – Perineum • Detect minor anomalies All Rights Reserved From Dr R.M Mudiyanse Down syndrome • Comment about mothers age • Establish it is downs syndrome • Assess – Development & IQ (give a positive comment) – Growth – Cardiac involvement – Hypothyroidism – Evidence of gut surgery All Rights Reserved From Dr R.M Mudiyanse
  • 19. 19 Place for chromosomal analysis • Non dysjunction • Translocation All Rights Reserved From Dr R.M Mudiyanse Examine the Face • Facial palsy • Cranial nerve palsy • Dysmorphic features – Downs syndrome – Sturge weber – Other syndrome • Don’t miss obvious micro/macro-cephaly All Rights Reserved From Dr R.M Mudiyanse Facial Palsy • Observe all the clinical features • Is it upper motor or lower motor • Severity and complications • What is the cause All Rights Reserved From Dr R.M Mudiyanse Facial Palsy • Observe all the clinical features – Absent or asymatrical naso-labial folds – Mouth Deviation – Closing eyes – Blowing the mouth – Drooling saliva – Bells sign • Is it upper motor or lower motor – Upper motor – only the lower half is affected – Lower motor – both upper and lower half affected All Rights Reserved From Dr R.M Mudiyanse
  • 20. 20 Facial Palsy • Severity and complications – Exposurekeratitis – Drooling of saliva – Depression • What is the cause – Bells palsy – Ramsey-hunt – blisters in the external ear – Brain stem tumors • Cerebeller signs • Other cranial nerves • Long tract signs All Rights Reserved From Dr R.M Mudiyanse Rickets • Observe all the clinical features of rickets – Head – fontal bossing, cross bun appearance – Chest – rickety rosary, Harrison sulcus – Limbs – widening of wrists and ankle, bowing – General - hypotonia • Anthropometric measurements • What is the cause – Nutritional – Renal – Hypophospatemic All Rights Reserved From Dr R.M Mudiyanse Comment about the X ray • Widening • Fraying • Splaying • Cupping • Osteopenia • Micro fractures All Rights Reserved From Dr R.M Mudiyanse Investigations for rickets • Alkaline phosphate – Increase in all forms of rickets + some forms of metaphysial dysplasia) • Serum calcium – low in hypocalceamic rickets ( but can be normal deu to PHT activity they will have increased aa in urine) • Serum phosphate – Low in hypophosphatemic rickets ( increased 24 hr PO4 excretion) • Renal functions – Renal rickets • Urinary aa and sugar – Fanconi associated rickets • Hypo K hyper Cl acidosis - RTA All Rights Reserved From Dr R.M Mudiyanse