Neonatal/Paediatrics
OSCE/Short Cases
For Year 5 Paeds Rotation
Session 2
Dr Amjad IMAM
Asst Prof Paediatrics AGU
Y5 EXAM Paediatrics
Continuous Assessment 25%
(+Portfolio)
Clinical Examination: long case & Short Cases
30%
Written 2 & ½ hr 35%
50 MCQ & 10 SAQ
OSCE 10%
10 station of 3 min each+/- rest station
(Skin Rashes,syndrome(gentics),X-Rays, Growth
chart,congenital malformation,Prescription
writing,Immunization,Interpretation of Blood results,blood
films,ECG, instrument ect)
OSCE/short cases/Spot diagnosis
Rashes(infection)?
Neonatal spot cases?
Common Syndromes?
ECG?
X-rays?
Instruments?
Blood Films
OSCE/Short cases/Spot diagnosis
Rashes/Infections
Know the Terminology of Rashes?
Terminology of SKIN Lesion
Description Example
Macule; Flat lesion with alteration in colour Vitiligo,freckle
Papule: Elevated lesion<0.5cm diameter Mulluscum contagiosum
Nodule: Elevated lesion>0.5cn diameter Viral wart
Plaque: Elevated area >2cm diameter Psoriasis
Wheal: Transient dermal oedema Urticaria
Vesicle:small fluid filled lesion<0.5cm diameter Herpes simplex
Scales: Flakes of stratum corneum Icthyosis,Psorisis
Excoriation: Damage to skin due to scratching Any pruritic(scabi)
Lichenification: Thickening due to rubbing Chronic ECZEMA
Ulcer : Loss of both dermis and epidermis Aphthous ulcer
MaculoPapular: Rash containing both flat and raised
Lesion MEASLES
What's this rash?
Milia
Epidermal inclusion cysts
Pearly, yellow, 1-3mm diameter
papules
Face, chin, forehead
50% newborns
Usually resolve in first month without
treatment, but may persist for several
months
What is this rash?
Mongolian blue spot
Blue/black macular discolouration at
the base of spine and on the buttocks
Occasionally on legs or other parts
Usually in dark skin ,afro-Caribbean or
Asians
Fades slowly over few days to 1 yr
Reassurance
What is the white substance?
Vernix Caseosa
Whitish greasy coat is produced by
epithelial cell breakdown
Ptotect skin from amniotic fluid in utero
What is the Rash?
Erythema Toxicum
Benign Common after 2-3 days
Also called neonatal urticaria
White pinpoint papule with
erythematous base
Fluid contain eosinophil
Come and go (Evanescent)
Resolve without any treatment self
limiting in 2-4 days
What's this?
Hemangioma
Strawberry Naevus
Most common benign tumour of
infancy,more common in preterm
Begin as barely visible telangiectasia
or red macules and grow in size until
9 month ,then regress
60% occur on head and neck area
All gone by age 5yrs
Large one treated with steriods or
interferon-alpha.
What's this?
Capillary malformations
2 common types-Salmon Patch & Portwine
Salmon patch (naevus simplex)
• Common (40% newborns)
• Small flat patches pink or red, poorly defined
borders
• Nape of neck (stork mark), forehead (angel kiss),
eyelids and sacrum
• Worse with crying
• Not associated with extracutaneous findings
• Fade during first month of life
Capillary malformations
Port wine stain(naevus
flammeus)
• Less common but permanent
• Present at birth and darken
with age
• Large flat patch of purple or
dark red skin with well defined
borders
• Persist in childhood then
darkens and thickens
• Extracutaneous
defects(Association)
• Glaucoma
Along Trigeminal (sturge-weber
syndrome) may associate
with intracranial vascular
anomalies/epilepsy
• Laser Therapy for Cosmetic
What's are these 2 rashes?
Nappy rashes
Irritant & Candidal
Irritant rash(contact) most common occur when
nappies are not changed frequently (urine).
Skin Flexures (Intertriginous areas) usually spared
Treat with emollient(aquous cream), barrier
cream(Zinc oxide) Nappy free
period?Hydrocartisone cream?
Candidal Rash involve skin flexures & associated
satellite lesions
Treat with topical antifungal agents+/- hydrocortisone
What's this rash?
Cradle cap
Greasy, yellow scaly patches over the scalp
May spread to face, ear and nappy
area(infantileSeborrheic dermatitis )
possibly due to overactive sebaceous glands in the
skin of newborn babies
Not itchy(NO pruritis)
Treatment with mild baby shampoos. Wash
regularly and brush softly to remove scales
Baby oil can help soften scales (not olive oil!)
Resolves by 6-12mths
If fails to improve = Try topical steroids+/- antifungal
What is the abnormality
Umbical Granuloma
Cause seropurulent discharge
Fleshy swelling
Treat by local application of silver
nitrate
Sometime surgery
What is the diagnosis?
Meningococcemia
Fulminant illness with acute onset and
rapid progression
Maculopapular rash to petechial to
purpuric rash
Rapid progess to septic Shock
Traetment supportive(ICU) ,Antibiotics
Prevention with rifampicin for close
contact
What is the Rash called?
HSP
Henoch-Schönlein Purpura
Commonest vasculitis of children
Triad of purpuric rash+ large joint
arthritis + abdominal pain +/- nephritis
Age 3-10 yr
Rash mainly on buttock and legs
Renal involenent-haematuria
Intussuscption can occur +/- malaena
What's the rash?
Chicken pox
Begins as an itchy red papules progressing to
vesicles on bright red base (dew drops on a rose
petal) on the stomach, back and face, and then
spreading to other parts of the body
Central umbilication of blisters follows rapidly,
crusting and desquamation within 10 days
Fever, sore throat, anorexia, malaise may precede
rash by several days
Incubation 7-21 days
symptomatic treatment in immunocompetent
• Cool compress, calamine lotion, antihistamines
?Vaccinate
What is this rash called?
Impetigo
Superficial bacterial skin infection
2 types: Impetigo contagiosa & Bullous Impetiga
Strep pyogenes or staph aureus
Round/oval lesions, begin as small pustular areas
and rapidly extend
Lesions rupture, with honey-coloured crust
Advice about avoiding spread
Localized lesion- topical antibiotic eg
Fucidin,mupircin cream-
Remove crust with gentle washing
Widespread infection - oral flucloxacillin or
erythromycin/augmentin
What's that rash?
Measles
Prodrome; fever, malasie, dry cough, coryza,
conjunctivitis, photophobia
Koplik spots on buccal mucosa
Rash 3-4th day of illness
Starts on face as blanching red macules and
papules, non itchy
Spreads down trunk and extremities
Rash coincides with high fever
Lesions become confluent, older lesions
develop rusty hue
Contagious 4 days before rash and 4 days
after
Koplik Spot
What is the Rash?
Roseola Infantum
Also called exanthema subitum or sixth
syndrome
Herpes virus 6
High fever followed by macular rash
Mild cervical lymph nodes
MIS-diagnosed as measles or rubella
Diagnose by serology
Treat symptomatic
What is this Rash?
Erythema Infectiosum
Also called Slapped cheek syndrome
or Fifth disease
Caused by parvovirus 19
Young school aged children
Usually asymptomatic
aplastic crisis in haemolytic
anaemias(Sickle cell / Thalasemia)
In pregnancy –fetal complications
What is the diagnosis?
Kawasaki’s disease
Uncommon acute multisystem disorder
Affect children of 6 mo to 4 yr
Common in japan
Vasculitis –small and midium vessel
Fever >5 days
Conjunctivitis
Cervical lymphadenopathy
Red,crack lips
Red and edematous palm & peeling of skin
Kawasaki disease(Cont’d)
High ESR/CRP
Generally Benign and self-limiting
Complication- Coronary aneurysm
and sudden death
Treatment immunoglobulin and Aspirin
ECHOcardiography to detect aneurysm
Infantile eczema
Atopic Eczema(Atopic Dermatitis)
Infants
• Infants less than one year old often have
widely distributed eczema.
• The skin is often dry, scaly and red with
small scratch marks made by sharp baby
nails
• The cheeks of infants are often the first
place to be affected by eczema.
• Readly infected with Staph or Strep or
rarely herpes
Atopic Eczema(atopic dermatitis)
Older Children: Elbow and Knee
flexures,wrist,neck+/- lechenification
Complication:
Secondary bacterial infection: Staph/Strep
Viral Infection: Eczema herpeticum-HSV infection
Viral wart,Mulluscum contagiosum,Varicella
Growth Impairment: in sever eczema,associated enteropathy?
Treatment of eczema
Avoid irritant & precipitants –aviod soap,
loose cotton clothes, avoid wool, keep cool,
nails short, gloves in bed
Emollients
Antihistamines
Topical steroids/oral steroids?Mild to Potent
Mild=hydrocortisone, Moderate=Eumovate,Potent=Betnovate
Topical antibiotics/antiviral/tacrolimus
Occlusive Bandages Wet Wrap(impregnated
with zinc/ Tar) for scratching
Immunomodulator-topical tacrolimus
Dietary elimination? Chinese herb?Photother
A healthy 6 yr old boy had developed multiple papules on arm.leg ,trunk
What is the Lesion??
MOLLUSCUM CONTAGIOSUM
Common in school children with DNA pox virus
Spread by contact and scratching lesions
PEARLY Papule with cental UMBLICUS
Spontaneous resolution in 6-9 mo(can last years)
Advise to separate Towels and Bath
Occasional Treated by CRYOTHERAPY
A 2 yr old girl is seen in HC with diffuse intense itching. All family
member are itching-Interdigital lesion ,papulovesicle
What is the Lesion??
SCABIES
An irritative reaction to female mite Sarcoptes scabiei
Transmission by direct contact
Scabies Burrows/Rash
Widespread itchy reaction to mite,their egg and excreta after 4-6 wk
Erythematous papule,pustule,excoriation
Lab Diagnosis by removal of mite or egg by KOH soln over a burrow,
scraping with needle and see under MICROSCOPE
Treatment
Treat patient and all close contact
Topical Scabicide: Permethrin cream after a bath to whole body(and
Head <2 yr)
Wash all bed linen and immediate clothes
A healthy adolescent developed a large scaly red patch followed by
widespread papulosquomous eruption-mostly on Trunk without itch
What is the Diagnosis?
Pityriasis Rosea
Common rash in adolescent
Harald Patch-large pink annular lesion
with raised border
Christmas Tree pattern
rash(cutenous cleavage line) on the
back follows harald patch
Teatment by emollient only. Mild
topical steroid to speed resolution
A 6 yr old boy had painful nodular lesion after sore throat
over the shin
What is the lesion?
Erythema Nodosum
Painful shinny,hot red elevated oval nodule
over the shin, female>male
Causes;
Infection: Strep,Mycoplasma,TB
IBD : Crohn , Ulcerative colitis
Autoimmune: Sarcoidosis,SLE
Drugs : Sulphonamides,oral contraceptive
Treament: bedret,NSAID,Traet the cause
OSCE
Neonatal spot diagnosis?
What is the abnormality?
Umblical(UH) & Inguinal Hernia(IH)
UH
Common in afro-Caribbean
May increase in size in first few month
Not painful, not tender, easily reducible
Most disappear by 1 year
Consider hypothyroidism (Cretin)
Refer for surgery if persist by 4 yr
IH- an emergency-Refer to Surgeon
What is the diagnosis?
Gastroschisis
Opening in an abdominal wall present
to the right to the umbilicus
Often diagnosed on prenatal
ultrasound
Managed by placement of plastic bag
followed by surgical repair
What is the diagnosis?
Exomphalos(Omphalocele)
abdominal contents protrude through
the umblical ring covered with intact
sac(wharton jelly)
Often associated with other major
congenital abnormality—Congenital
heart & renal abnormality.
Management is supportive followed by
surgical repair
What is the abnormality?
Erb’s Palsy
Follows a traumatic delivery or
shoulder presentation
Traction of upper nerve roots of C5/C6
of Brachial Plexus
Most resolve by physiotherapy
Refer to orthopedics if not resolve by 6
week
What is this swelling?
Cephalhaematoma
Result from bleeding below the
periosteum
Involve parietal bone
Resolve over several weeks
Complication-jaundice and infection
Treatment is conservation
D/D Caput Succedaneum
Cephalhaematoma
Cephalhematoma is haematoma from
bleeding below the periosteum ,limited
by skull sutures. Resolve over weeks
Complication: infection,hyperbilirub
Caput Succedaneum is bruising and
edema of the presenting part extending
beyond the margin of skull bones.
Resolve over few days
Caput Succedaneum
What is the abnormality?
Neonatal Gynecomastia
Breast enlargement can occur normally
Can occur in both sex (boys or girls)
Maternal hormone?
Small amount of milk may be
discharged
Resolves spontaneously
Reassurance
What is the cause?
Big Baby (Macrosomia)
IDM
Backwith- Wiedemann syndrome
Infant of Diabetic Mother
IDM(Macrosomia)
Fetus: congenital malformation—
cardiac,sacral agenesis, hypoplastic
left colon-IUGR-macrosomia (shoulder
dystocia,Erb’s palsy)
Neonatal:hypoglycaemia,RDS,
Hypertrophic cardiomyopathy,
Polycythemia
Beckwith Wiedemann syndrome
Backwith- Wiedemann syndrome
Gene at 11p Imprinting
Macrosomia+ Ear crease on ear lobule
Pacreatic hyperplasia and hypoglycemia
Omphalocele, Hemihypertrophy,
Wilms Tumour
What is the Sex of Baby?
Ambiguous Genitalia
Congenital adrenal hyperplasia(CAH)
CAH most common cause of ambiguous
genitalia
21-Hydroxylase deficiency is the most
common
Investigations: Karyotype,serum
electrolyte,abdominal ultrasound & hormone
assay
Management:
Replace
harmone(cortisol/testosterone)+reconstructive
surgery
OSCE/Short case
Common
Syndromes
List 3 Cranio- facial feature of
this syndrome
Down Syndrome (Tri 21)
Round face and flat nasal Bridge
Upslanted plepebral fissures
Epicanthic folds
Brushfield spots in IRIS (pigmented spots)
Small mouth and protruding tongue
Small low set Ears
Flat Occiput (Brachycephaly)
Short neck (risk of atlantoaxial subluxation)
Down syndrome
Nondisjunction(95%),Translocation,robertsonian,Mosaic 1%
Hypotonia(floppy,small stature,developmental delay,
Short fingers,clinodactyly,single palmer crease,wide gap between 1st
and 2nd toes(sandal gap)
Heart: 40% AVSD, vsd,PDA,ASD, valve prolapse
Lung: increased chest infection
Endocrine: hypothyroid,Diabetes
SKIN: loose neck fold,dry skin. folliculitis in adolescent
Infertility common
Alzheimer late
What is this syndrome
Edward(Trisomy 18)
Overlapping of fingers
Prominent occiput
Rocker bottom feet
Cardiac and renal malformation
What is the syndrome in 18yr girl?
Turner Syndrome
Common Features
Lymphoedema of hands and feet
Short Stature
Webbing of Neck
Wide carrying Angle cubitus valgus)
Coarctation of Aorta
Delayed Puberty-Amenorrhea
Ovarian dysgenesis (infertility)
Hypothyroidism
Renal Anomalies-horseshoe kidney
Same feature in MALE-------------NOONAN syndrome except Rt sided PS
What is the abnormality?
Achondroplasia
Autosomal dominant
Most common skeletal dysplasia
Short stature, macrocephaly,flat
midface with prominent forehead
Associated hydrocephalus,dental
malocclusion,hearing loss
Normal intelligence and normal life
spans
Child with supravalvular aortic
stenosis, prominent lips,
developmental delay, and
hypercalcemia. This is indicative
of1. DiGeorge syndrome
2. Williams syndrome
3. Noonan syndrome
4. Down syndrome
5. Fetal alcohol syndrome
Answer: 2. Williams Sd
Williams syndrome
Moderate Dev. Delay (IQ41-
80)
Typical personality (Cocktail)
Characteristic facial features
• Periorbital fullness
• Stellate iris
• Prominent lips/open mouth
• Depressed nasal bridge
Supravalvular aortic stenosis
Hypercalcemia
Renal anomalies
Hoarse voice
22q11microdeletion
Di George/VCFS
Physical Birth Defects
(CHD, CL&P)
Medical Complications
(endocrine, immune,
skeletal, neurologic, GI)
Communication Disorders
(VPI, language delays)
Developmental Delays / LD
Social/Behavioural
Difficulties
Increased risk for
psychiatric illness (25%
What is the diagnosis?
Fetal Alcohol Syndrome(FSH)
Characteristic Facies born to mother
with ingestion of alcohol in pregnancy
Saddle shaped nose
Mid facial hypoplasia/microcephaly
Maxillary hypoplasia
Developmental delay
ECG
What is the rhythm?
Supra-ventricular tachycardia
SVT
Most common arrhythmia in children's
Narrow QRS complex ,difficult to find P
wave.
Heart rate >200 usually idiopathic-
Rarely Wolff-Parkinson syndrome
Vagal stimulation—carotid sinus
message,cold ice pack to face
I/V adenosine if stable and not in shock
Synchronised DC shock if in shock?
X-Rays
Child Abuse
Type of Abuse
Physical (Non accidentalinjury)NAI
Sexual
Emotional & Neglect
Fabricated (Munchausen syndrome by
proxy)
What is the diagnosis?
Fracture of Rib
Posterior rib fractures are diagnostic of
NAI
Easy to MISS
Spiral and Metaphyseal fracture
Fracture due to NAI
Metaphyseal fracture
Posterior rib fracture
Spiral fracture of femur in Toddler
Multiple fracture
Fracture of different ages
Complex & Linear skull fracture
A 3 year old boy presented to emergency with 7 day h/o cough and
wheeze after choking on some peanuts.
What is the diagnosis?
Foreign body inhalation
Differential diagnosis
Asthma
Recurrent respiratory infection
Recurrent aspiration(+/- GERD)
Suppurative lung disease (CF)
Bronchoscopy –Fibro-optic and Rigid
What is the abnormality in normal
baby CXR?
Thymus Sail Sign
Thymus BIG in Neonates—T cell
Absent in Di George syndrome/SCID
microdeletion Chromosome 22
Hypocalcemia,recurrent infection
Cleft palate, low set ear,learning
problems,Aortic arch anomalies(Rt sided
aortic arch, inturrepted AA
Trucal arteriosis,VSD,PDA,TOF
Enlarged Thymus-Sail Sign
What is the abnormality?
Big Heart Shadow
Cardiomegely
Heart failure
HOCM/DCM
Pericardial effusion
Significant Lt to Rt shunts
Ebstein Anomaly
What is the Cardiac Abnormality?
Ventricular Septal Defect
VSD
CARDIOMEGELY & PULMONARY PLETHORA
30% of CHD
Types?
Inlet
Muscular
Perimembranous
Outlet
Loud Pansystolic murmur LSE+Thrill (Mid-diastolic
if large defect due to increased mitral flow)
Loud P2 if pulmonary hypertention
What is the syndrome?
Immotile Cilia Syndrome
Kartagener syndrome
Group of inherited condition caused by
absence of dynein(ATPase) on the cilia
SITUS Inversus(dextrcardia), Chronic
sinusitis,immotile cilia
Neonatal respiratory syndrme,chronic sinusitis,otitis
media,male infertility
Diagnosis by iltrastructural changes of dynein arms on
cilia(gold standerd)
Nasal mucosal scrapping-motality decreased
Ferguson E C et al. Radiographics 2007;27:1323-1334
©2007 by Radiological Society of North America
Transposition of great arteries
TGA
Egg on side shaped
Increased pulmonary marking
Two parrallel circulation
Survival due to mixing –PDA, Foramen
ovale, ASD,VSD
What is the diagnosis?
Ferguson E C et al. Radiographics 2007;27:1323-1334
©2007 by Radiological Society of North America
Figure. Tetralogy of Fallot.
Ferguson E C et al. Radiographics 2007;27:1323-1334
©2007 by Radiological Society of North America
Tetralogy of Fallot (TOF)
VSD
RV outflow obstruction(valvular+infundibular stenosis)
Overriding aorta
RV hypertrophy
Associations:
Down syndrome
Di George
CHARGE
VACTERAL
What does the Box shaped heart
mean?Diagnosis?
Ferguson E C et al. Radiographics 2007;27:1323-1334
©2007 by Radiological Society of North America
Ebstein anomaly
BOX shaped Heart
EBSTEIN ANAMOLY
Abnormal tricuspid valve(leaflet adherent to wall)
Distally displaced TV
Atrialization of Rt Ventricle
ASD
Functional pulmonary atresia
WPW syndrome
Ferguson E C et al. Radiographics 2007;27:1323-1334
©2007 by Radiological Society of North America
Type I TAPVR. the classic snowman sign, sometimes referred to as a figure-of-eight sign.
Ferguson E C et al. Radiographics 2007;27:1323-1334
©2007 by Radiological Society of North America
Total anomalous venous
drainage(TAPVD)
All the pulmonary V. drain into Rt
Atrium
3 type:
1. Supracardiac
2. Cardiac
3. Infracardiac
Classical SNOWMAN SIGN or figure of 8
What is the diagnosis?
Cong. Diaphragmatic hernia
Most common left side through
posterolateral foramen(Bockdalek)
85%
Present with failure to respond to
resuscitation or resp distress
Mortality high if lungs hypoplastic
Rx=After stabilization—Surgical repair
What is diagnosis? Name 2 X-ray abnormalities?
RICKETS
Nutritional Rickets due to Vit D
Deficiency
Xray shows cupping and fraying of
metaphyses & widened epiphyseal
plate
Clinical feature include Failure to Thrive,Frontal bossing of skull,
Craniotabes(pingpong ball sensation of skull),Delayed closure of anterior
fontanelle,Delayed dentition,Rickety Rosary(prominent costochondral
junction).Harrison’s Sulcus(horizental depression on lower chest corresponding to
attachment of diaphram),Expansion of Metaphyses(especially
wrist),Hypotonia,Bowed Leg
Blood test: Calcium is normal or low
Phosphorus is LOW
Alkaline Phosphatase is greatly increased
OSCE/Short Cases/Spot diagnosis
INSTUMENTS
What is this instrument?
AeroChamber with Mask
Used in Children for delivery of drugs in
Asthma (inhaled steroids/ventolin) with
inhalor.
Better coordination and deposition of
drugs in lung in small Kids
What is the name of this ?
Disc inhaler for asthma
Used for bigger children for Inhaled
steriods
DISKUS-Dry powder inlalor
Need good inspiraory flow
Use in +4 yr old
Portable
What is this instrument?
SPACER
MDI (Inhaler) with Spacer(Nebuhalor)
Suitable for all ages
Suitable for <2 with facemask
Suitable for >2 without face mask
What is this instrument?
Nebulizer
All ages
Used in acute asthma where oxygen is
needed in addition to inhaled drugs
Occationaly used at home in acute
emergencies
Closed Incubator
Growth Charts
Essential growth measurement:
Single height(Ht), weight(Wt) & Head circumference(OFC)(<2yr)
Growth pattern plotted over 6-12 mo assess rate of growth and
deviation across centiles
Chart for Ht,Wt,and OFC from extreme prematurity(23weeks)
to 20 years.
There are 9 equidistant centile line 2/3rd of a standard deviation
apart=0.4th centile to 99.6th centile-equivalent to +/-2.67
standard deviation from mean
WHO growth chart(Z score),CDC chart,RCPCH(British) chart,
growth velocity chart-indicator of growth problem(2
measurement 4 month apart-the difference between 2 Ht is
devided by time interval between them= growth in cm/yr
Down syndrome chart,Turner syndrome chart
Gestational Age: SGA/AGA/LGA
Failure to Thrive
Down syndrome growth chart
OSCE/Short cases
Blood Films
This is a peripheral blood film from a 3 yrs. old Africo-Caribbean child
with abdominal pain and mild jaundice
1.Name 2 abnormality
2.What is diagnosis
3. How you confirm?
4. What advise to family?
Sickle cell disease
1. Large proportion of Sickle cell, target cell,
Polychromasia
2. Sickle cell disease
3. HPLA
A Sickle solubility screening test
Hb Electrophoresis
4. Educate family about prevention and treatment of
painful crises with analgesia+hydration
Pneumovax,H influ & HepB vacc
This 6 year old child had an abdominal operation following
trauma at the age of 4 yr
1.Name 2 abnormalities
2. What is the diagnosis?
3. What are long term complication?
Hyposplenism
1. Target cell, Howell –Jolly bodies(blue staining
remnant of RBC) and crenated RBC
2. Hypospenism: Splenectomy is done in chr ITP
hereditary spherocytosis,sickle cell disease
3. Increased risk of pyogenic infection including
pneumonia,septicaemia & meningitis cause by
pneumococcus and other polyschcharide
encapsulated organisms(eg,H influenza TypeB,
Vaccine +Penicillin until adult life
This is a blood fil from a 18 mo old child on bottle feeding only with
pallor and poor apetite.
1. Name 2 abnormalities
2. What are the causes
3. How to confirm diagnosis?
Iron deficiency/beta Thal trait
1. Hypochromic, microcytic RBC,Anisocytosis,Cigar
shaped RBC
2. Iron def anaemia, beta thalacaemia Trait
Cigar shaped in iron def
3. Iron studies__-Serum ferritin,total iron binding
capacity
HPLC/Hb electrophoresis after iron
repletion
This is the blood film of 6 mo old infant who had history of
neonatal jaundice
1. What is the diagnosis?
2. Name 2 complication
3. How to treat?
Cong Hereditary Spherocytosis
1. Spherocytosis AD There are multiple small
densely staining spherocyte—large blue young
red cell –polychromatic
2. Hyperbilirubinaemia—prolong neonatal jaundice
Fluctuating jaundice,splenomegaly & gall stone
3. F/U for anaemia,monitor growth
Splenectomy if severe
anamia,hypersplenism,gallstone or failure to thrive
AD screen other family member
Genetic Diagnosis
Diagnostic TIP
&
Diagnostic TRIAD
Diagnostic TIP
A.Mousy body odour?
B. Maple Syrup odour
C. Doll like facies?
E. Elfin face?
F. Red urine on exposure?
E. Blue diaper
Diagnostic TIP(Ans)
A.Phenylketonuria
B. Maple Syrup urine diseseas
C.Glycogen storage disease(G-6 P def)
D. William Syndrome
E. Porphyria
F. Tryptiphan malabsorption
Diagnostic TIP
A.Chipmunk facies?
B.Fish like mouth with micrognathia
C.Butterfly like facial rash
D.Happy Puppet feature
E. Blue sclera
F. Hig pitched meowing cry
Diagnostic TIPS(Ans)
A. Thalasemia major
B. Turner syndrome
C. SLE
D. Angleman syndrome
E. Osteogenesis Imperfecta
F. Cat Cry syndrome(maladie du cri du
chat)
Diagnostic Triad
A. typical facies+hypotonia+single
palmer crease?
B. MR +Large ear+Large testes?
C. male child+wadling gait+bulky calves?
Diagnostic Triad(Ans)
A. Down syndrome
B. Fragile X syndrome
C. DMD
Diagnostic Triad
A. Pallor+ Jaundice+ hepatomegaly?
B. light brown skin patches+ skin
tumour+ axillary freckles?
C. adenoma sebaceum+ MR+seizure
Diagnostic Triad(Ans)
A. Thalasemia Major
B. NF1
C. TS
MNEMONICS
6 T’s
6 T’s(Cyanotic heart)
Transposition of great arteries
Tricuspid atresia
Total anomalous pulmonary venous drainage
Truncus arteriosis
Tetralogy of fallot’s
aTresia Pulmonary
My HEART
My HEART for Kawasaki
M Mucosa
H Hand extremity changes
E Eye changes
A Adenopathy
R Rash
T Temperature
Refleses 1,2,3,4,5,7,8
Reflexes 1,2,3,4,5,6,7,8
Ankle S1,S2
Knee L3,L4
Biceps C5,C6
Triceps C7,C8
Fluid 4,2,1
Fluid regimens
4,2,1
For children over 10 kg:
First 10 Kg they need 4ml/kg/hr
For next 10 kg they need 2ml/kg/hr
Thereafter per Kg they need 1ml/kg/hr
CATCH 22
Di George syndrome
CATCH 22
C Cardiac abnormalities
A abnormal facies
T Thymic abnormality
C Cleft palate
H hypocalcaemia
22 Microdeletion are on chromosome 22
VACTERL
VACTERL Syndrome
V Vertebral anomilies
A Anal
C cardiac
T Tracheal
E Esophageal
R Renal
L Limb
Mnemonics
APGAR score
A Appearance
P Pulse
G Grimace
A activity
R Respiratory rate
END of Year 5 Paediatrics Rotation
Best of Luck for end of rotation EXAM
June 2014