Post on 14-Apr-2018
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Investigations NMT11
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Investigations in a comparative view
Microcephaly
Laboratory Imaging
Chromosomal study(karyotyping)
If chromosomal abnormality is suspected
TORCH screening
For mother &childern
CT or MRI
Structural abnormalities of the brain or
cerebral calcification
Short statureLaboratory Imaging
Chromosomal study(karyotyping)
Turner syndrome
Hormonal profile
Pituitary ,thyroid, parathyroid & adrenal
gland
Growth hormone
Unnecessary to subject children to assayuntil they have at least 6-12 months of
height velocity follow up
Calcium,phosphorus & alkaline
phosphatase
Rickets
CT Brain
For pituitary gland lesions
(e.gcraniopharyngioma)
Bone age determination( x-ray wrist)
To differentiate familial short
stature(normal bone age) from
constitutional delay of growth &puberty
Down syndrome
Laboratory ImagingChromosomal study(karyotyping)
To determine the genetic type & risk of recurrence
C.B.C
If leukemia is suspected
thyroid profile
Plain X-ray
Chest : pneumonia Abdomen :anal atresia
Echocardigraphy:
Cardiac anomalies
Abdominal ultrasonography
To exclude renal & gastrointestinal anomalies
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Prenatal diagnosis of down syndrome:
Triple test UltrasongraphyAminocentesis: low of fetoprotein Chorionic villus sampling
Normal newborn
Biochemical screening Other general measures
Hypothyroidism
Early diagnosis & therapy improves theprognosis
Metabolic disorders ( PKU,
homocystinuria, galactosemia&Marple
syrup urine disease )
When milk feeding has been established
between 6th& 8th day of life
Cystic fibrosis
Vit K injection
Heamorrhagic disease of the newbornCord care
Paint by alcohol
Eye care
Antibacterial eye drops
RDS
Laboratory Imaging
Blood gases & electrolytes
To asses severity
Chest x-ray
Diffuse reticulogranular pattern (areasof collapse) with air bronchogram (air
in the major bronchi appears in
contrast with the white background ofcollapsed alveoli as air bronchogram)
Complete calcification of both lungfields (white lung )in severe conditions
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Neonatal hyperbilirubinemia
Unconjugated conjugatedSerum bilirubin
Increased total & indirect bilirubin
Blood picture
Hemolysis or septicemia
Blood grouping (ABO & RH ),Coombs test
For baby & mother to exclude hemolytic
disease
Enzyme essay
G6PD deficiencyRBCs morphology & osmotic fragility test
Spherocytosis
CRP , ESR & cultures
If septicemia is suspected
Thyroid profile
If not done in screening program
Serum bilirubin
Increased total & direct bilirubin
AST & ALT
Increased
Alkaline phosphatae& gamma
glutamyltranspeptidase
Increased
Total serum proteins & albumin
Decreased
Prothrombin tineProlonged
Reducing substance in urine
Galactosemia
CBC, CRP ,ESR , Cultures
Septicemia & other bacterial infections
TORCH screening
specific antibodies of TORCH e.g. CMV
Total IgmM antibody
Level above 18-20 mg/dl is highly suggestive
1 antitrypsin assay (NL=150-250 mg/dl)
1 antitrypsin deficiencyferric chloride urine screening,if positive:
aminogram
tyrosinemia
abdominal Ultrasonography
choledochal cyst
HIDA scan
In extrahepatic biliary atresia:no excretion ofdye in the intestine
In idiopathic hepatitis : excretion of portalareas with fibrosis & bileduct proliferation
Liver biopsy
In extrahepatic biliary atresia:expansion ofportal areas with fibrosis & bile duct
proliferation
In idiopathic hepatitis: gaint celltransformation
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Neonatal seizures
Laboratory Imaging
CBC, differential count & platelet count
Blood culture
Blood chemistry:
Glucose ,calcium ,magnesium ,electrolytes
& blood gases
CSF analysis & culture
Specific tests for suspected cases
TORCH screening ,ammonia level & aminoacids in urine
Cranial ultrasonography
For hemorrhage
CT scan
For hypoxic ischemic encephalopathy,
hemorrhage & malformations
EEG
Normal in one third of cases
Marasmus & KWO
Laboratory Imaging
Blood picture
Anemia &leucocytosis
Plasma proteinsLow total protein(N: 6-8 gm %)
Low serum albumin
Low serum alpha & beta globulins but increased gamma globlins
Glucose
Hypoglycemia(impaired glycogenolysis)
Electrolytes
K:Decreased (lost in diarrhea low dietary intake aldosterone
effect)
Na:Total Na increased (aldosterone effect) but serum Na
decreased water retention (dilutionalhyponatremia)
Mg: decreased
Chest x-ray
To exclude chest
infections
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Rickets
Laboratory Imaging
Serum calcium
Normal (N: 9-11 mg %)
Or decrease in :
Severe cases(depletion of ca in bones) Parathyroid exhaustion Shock therapy with vitamin D
Active rickets
Epiphysis: wide Joint space (translucent non
calcified area)
Metaphysis :
Epiphyseal line: Frayed, irregular Cupping (concavity) & widening
Diaphysis:
Rafraction (decreased bone density) Double periosteal line due to
subperiostealdeposition of osteoid
tissue (translucent)
Pathological fractures (green stick)Healing rickets (2 weaks of vit D therapy)
No fraying :concave continuous lineof provisional calcification ,separate
form the lower end of bone (osteoid
tissue in between)Healed rickets
Thick dense transverse line ofprovisional calcification
Improved bone densityPneumonia
Laboratory Imaging
CBC, ESR ,CRP
To differentiate between
bacterial & viral causes
Culture & sensitivity test
Chest X-ray
Lobar pneumonia : lobar consolidation Bronchopneumonia: nodular or patchy infiltration Para hilar shadow with radiating streaks Exclude effusion as a complication
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Bronchiectasis
Laboratory Imaging Others
Sputum culture
& sensitivity test
x-ray
honey comb or soap bubble
appearance
CT
Bronchography
Bronchoscopy
Empyema (purulent pleurisy)
Laboratory Imaging
Thoracocentesis
The collected fluid is examined (culture &
sensitivity) to determine the causative
organism
x-ray
obliteration of costo-phernic angleby homogenous opacity raising to
the axilla
pushing the mediastinum to theopposite side
Bronchial asthma
Laboratory Imaging
IgE(total & specific to common antigens)
Increased in atopic asthmaSkin tests with common antigens
To detect the cause
Inhalation bronchial challenge tests exercise
challenge test
Pulmonary function tests
To assess the degree of airway obstruction
X-ray
Hyper inflated chest
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TB
Laboratory ImagingSkin test (Tuberculin)
Principle :detection of delayed hypersensitivity
induced by TB bacilli or BCG
Administration :PPD(purified protein derivative)-
0.1 ml I.D. in the flexor surface of forearm
Interpretation: after 48-72 hours( by measuring
the induration not the erythema) negative =no reaction or induration less
than 5 mm
Either :
1. good negative result (no TBinfection)
2. false negative result positive result =induration 10 mm or more
Either :
1. TB infection2.
BCG vaccination(false positive ) Doubtful reaction =induration 6-9mm(
test should be repeated)
CBC
Anemia
ESR
Elevated
CRP
Positive
Isolation & culture of the organism
Sample :sputum gastric aspirate stomach wash
Direct smear with Z.N stain (acid-fastorganism)
Culture on lowensteinjensen mediumwhich requires 4-6 weeks
Biopsy
L.N. , skin, pleura
X-ray
Any lesion e.gmediatinal shadow, miliray
shadows
CT
N.B.
Negative results due to :
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1. Testing in the pre-allergic state after infection but before thedevelopment of sensitization which takes 6-8 weeks2. Tuberculin used is inactivated or given S.C.
3. Immunosuppression: facors interfering with activation:Fulminant TB, corticosteroids therapy ,immunosuppressent,severe
malnutrition ,chronic diseases with cachexia & recent viral infections or
vaccinations
Recent laboratory tests:1. New rapid culture technique in 7-10 days (bactec radiometric system)2. ELISA: to detect specific antibodies3. PCR
Fallot tetralogy
Laboratory Imaging & others
CBC:increase Hb&Hct (microcytosis if
there is iron deficiency)
CXR:-Heart: Coeur en sabot (boot-shaped)
Normal size (normal cardio-thoracic ratio)
RV hypertrophy (acute cardio-phrenicangle)-uplifted apex
Exaggerated cardiac waist (smallpulmonary artery)
-Chest: lung oligemia(decrease vascularity)
ECG: hypertrophy of the RA &RV(mild) ECHO: for anatomical defects(pulmonary
stenosis(usually infundibular, may be valvular),
big VSD, overriding aorta & RVH)
Catheterization (usually needed beforesurgery)
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D-Transposition of the great arteries(TGA)
Laboratory Imaging & others
CBC:increase Hb&Hct
CXR:-Heart: Egg on side
Cardiomegaly
Narrow pedicle
-Chest: lung plethora( PVMs)
ECG: hypertrophy of the RV ECHO: for anatomical defects(aorta arises from
RV, pulmonary artery arises from LV
&communication either ASD, VSD or PDA)
Catheterization
Ventricular septal defect (VSD)
IF SMALL IF LARGE
CXR: normal ECG: normal ECHO: diagnostic for showing
the anatomical defect(defect in
the interventricular septum
either membranous or
muscular)-showing the size ,site
&direction of flow through the
shunt
Catheterization: if not improvedwith age
CXR:-Heart: biventricular enlargement
-Chest: lung plethora ( PVMs)
ECG: biventricular hypertrophy ECHO: for anatomical defect(defect in
the interventricular septum either
membranous or muscular)
Catheterization
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Atrial septal defect (ASD)
Ostiumsecundum Ostiumprimum
CXR:-Heart: RV hypertrophy
-Chest: lung plethora ( PVMs)
ECG: RV hypertrophy ECHO: for anatomical
defect(high defect in intratrial
septum)
Catheterization
CXR:-Heart: biventricular enlargement
-Chest: lung plethora ( PVMs)
ECG: biventricular enlargement ECHO: for anatomical defect(defect in
the lower intratrial septum, cleft anterior
leaflet & mitral regurge)
Catheterization may be needed, toassess the magnitude of the shunt & thedegree of mitral regurgitation
PDA&Coarctation of aorta
PDA Coarctation of aorta
CXR:-Heart: LV enlargement
-Chest: lung plethora ( PVMs)
ECG: LV enlargement ECHO for study of anatomical
defects(persistence of the
ductusarteriosus)
Doppler: flow across the vessels
Catheterization
CXR:-Heart: LV enlargement
-Chest: rib notching (older children)
Normal pulmonary blood flow
ECG: LV enlargement ECHO: for anatomical defects(localized
narrowing of the aorta)
Catheterization
N.B. Rib notching: enlarged intercostal arteries have eroded the underside of the ribs
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Aortic stenosis&Pulmonary stenosis
Aortic stenosis Pulmonary stenosis
CXR:-Heart: LV enlargement
-Chest: Normal pulmonary blood
flow
ECG: LV enlargement ECHO: for anatomical defects (if
valvular(fusion of cusps),supravalvular(as in William
syndrome) or subvalvular)
Catheterization
CXR:-Heart: RV hypertrophy
-Chest: normal pulmonary blood flow
ECG: RV hypertrophy, prolonged P-Rinterval
ECHO: for anatomical defects(ifvalvular(fusion of cusps), supravalvular
or subvalvular) Catheterization
Rheumatic fever
Acute phase reactants(degree of
inflammation)
Evidence of recent streptococcalinfection
Cardiacassessment
Elevated ESRMore than 50 mm is
suggestive (normal 1st
hour=3-7 mm ,2nd
hour=8-15 mm)
Elevated CRP Leucocytosis
Antistreptolysin O titer (ASOT) >300 Todd units(normal 150)
Antistreptokinase Antihyaluronidase Throat culture( usually negative)
CXR:cardiomegaly
ECG:tachycardia &
prolonged P-R interval
ECHO:chamber enlargement
& valve affection
N.B. investigations are normal in isolated chorea due to long latent period
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Infective endocarditis
Laboratory Imaging
Blood culture (repeated 3 timesafter proper skin
decontamination)
CBC:leukocytosis ESR & CRP Urine analysis :heamaturia
CXR, ECG & ECHO(for vegetations &anatomical defects)
NB: The 3 cultures should be obtained within 24-48 hours Absence of vegetations dose not exclude infective endocarditis TEE is more accurate (vegetations)
Iron deficiency anemia
laboratory imaging
CBC:o Microcytic hypochromic
anemia (color index is below
one)
o Normal reticulocytic count(usually increases with
initiation of iron therapy)
Serum iron: (normal level is 90-150microgram/dl)
Serum ferritin: Iron binding capacity: (normal
level is 250-350/dl)
Bone marrow:hyperactive(erythroid hyperplasia), not
necessary in most cases
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thalassemia
Evidence of chronic hemolytic anemia Diagnostic investigations
CBC:Microcytic hypochromic anemia
Increased reticulcytic count
Serum iron & serum ferritin: Iron binding capacity: Unconjugated hyperbirubinemia Urine analysis:urobilinogen Stool analysis:stercobilinogen Bone marrow:hyperactive (erythroid
hyperplasia), not necessary.
Hb-electrophoresis Increased Hb-F (10-90%)beta-
thalassemia major
Increased Hb-A2 (above 4%)beta-thalassemia minor
Blood film:target cells,anisocytosis&poikilocytosis
Skull x-rayshows wide deploic space,but this finding is late & not
important for diagnosis
Sickle cell anemia
Evidence of chronic hemolytic anemia Diagnostic investigations
as thalassemia Blood film:sickle-shaped red cells inthe peripheral blood
Hb-electrophoresis:Hb-SIn homozygous form: 90-100% &
absent Hb-A
In heterozygous form: 20-40% &Hb-
A (60-80%)
Hereditary Spherocytosis
Evidence of chronic hemolytic anemia Diagnostic investigations
as thalassemia Blood film:spherocytes in theperipheral blood.
Osmotic fragility test:+ve
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Immune Thrombocytopenic purpura (ITP)&Henoch-
Schonleinpurpura
ITP Henoch-Schonlein
CBC:Thrombpcytopenia (usually below
20.000/mm2)
Anemia: if present, is related to blood loss
WBCs count: normal with relativelymphocytosis
Bone marrow:normal ormegakaryocytes with defective budding
Anti-platelet antibodies: in 60% of casesonly
CBC:normal platelet count Normal platelet function
Aplastic anemia & Acute leukemia
Aplastic anemia Acute leukemia
CBC:Pancytopenia (anemia,leucopenia & thrombocytopenia)
Bone marrow:hypocellular withdecreased precursors of the 3 blood
elements
CBC:anemia and thrombocytopeniain the peripheral blood
Bone marrow:o Blast cells: in acute
lymphblastic leukemia (ALL)
o Myeloid cells: in acute myeloidleukemia (AML)
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Hemophilia A & Hemophilia B & Von Willibrand disease
Hemophilia A (classic
hemophilia)
Hemophilia B (Christmas
disease)
Von Willibrand disease
Bleeding time(BT):normal
Partial thromboplastinetime
(PTT):significant
prolongation.
Specific factor VIIIassay:determines theseverity.
Bleeding time(BT):normal
Partial thromboplastinetime (PTT):
significant
prolongation.
Factor IX plasmalevel:
CBC:normal plateletcount.
Bleeding time(BT):prolonged.
Plateletfunctions:aggregation
.
Partial thromboplastinetime (PTT):prolonged.
Reduced levels of VWprotein, VW factor &
factor VIII activity
Epilepsy
laboratory imaging specific Fasting blood sugar,
calcium , magnesium,
urea , creatinine.
CSF examination:toexclude CNS infection if
the patient is febrile.
EEG. CT scan and MRI :when
an intracranial organic
lesion is suspected.
plasma and urineaminogram or a
TORCH screening:may
be required if the clinical
picture is suggestive
(microcephaly, recurrent
seizures, jaundice,
hepatosplenomegaly,
cataract, history ofrepeated abortion or still
birth).
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Meningitis
laboratory Imaging
Lumbar puncture and CSFexamination.
Culture and sensitivity study of CSF. Antibody and PCR:for viral infection is
done to exclude viral meningitis and
encephalitis.
Chest x-ray :if tuberculosis meningitisis suspected.
Encephalitis
laboratory imaging others
CSF examination :typicalCSF findings in viral
encephalitis include
a. Increased intracranialpressure
b. Variable pleocytosis(10-500 cells/mm3)
mainly lymphocytes
c. Increased proteinlevel (>40 mg/dl)
d. Normal glucose levele. CSF should be also
examined for
bacteria,mycobacterium, fungi
and viruses.
Serologic tests:Hemagglutination
inhibition and
complement fixation
tests
ELISA
EEG, CT scan and MRI:a. EEG: a diffuse bilateral
slowing of background
activity is the most
usual findingb. MRI :is helpful in post-
infectious encephalitis
(foci of
demyelination).
Herpes simplex has a
special predilection to
the temporal lobe.
Brain biopsy:forculture and rapid viral
antigen tests.
Diagnosis of herpes
simplex encephalitis isbest done by brain
biopsy
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Brain abscess & Cerebral palsy
Brain abscess Cerebral palsy
CT scan: rounded hypodense lesion.With contrast-enhanced CT, the
abscess capsule shows a thin-walled
regular ring enhancement.
MRI.
CT scan of the head.
Hydrocephalus & Microcephaly
Hydrocephalus Microcephaly
CT scan of the head:in obstructivehydrocephalus, there is dilatataion only
proximal to obstruction. In
communicating hydrocephalus, all
ventricles are dilated.
Karyotype:if a chromosomalabnormality is suspected or of the child
have dysmorphicfeatures , short
stature and additional congenital
anomalies.
TORCH profile:for both mother andchild should be done.
CT scan and MRI:may identifystructural abnormalities of the brain ,
intracranial calcification (as in
toxoplasmosis and cytomegalovirus
infection) or brain atrophy.
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Guillainbarre syndrome & Progressive motor weakness
&Duchenne muscular dystrophy
Guillainbarre Progressive motor
weakness
Duchenne
CSF examination:(2 weeks after the onset
of paralysis) shows
increased proteins.
Electromyography:isdiagnostic of peripheral
nerve affection.
With suspected braindisease:CT scan and
MRI
With suspected spinalcord lesion:CT scan orMRI of the spinal cord
With suspected muscledisease:serum CPK,
electromyography and
muscle biopsy
Serum creatinephosphokinase (CPK):is
elevated 10-200 times
higher than normal. It is
elevated before muscleweakness so it can be
used as a screening test.
Electromyography andmuscle
biopsy:(characteristic)
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Nephrotic syndrome
laboratory Others
Urine analysis:proteinuria (urinaryproteins >40 mg/m2 /h). proteinuria in
minimal change nephritic syndrome is
selective (mainly albumin loss)
Renal function tests and complement3 : usually normal
Serum albumin:hypoproteinemia(reduced serum albumin below 2.5
gm/dl)
Serum cholesterol:hyperlipidemia(elevated plasma cholesterol and
triglycerides)
Renal biopsy :only indicated ina. Age < 1 year or >8 yearsb. Persistent hematuria or
hypertension
c. Renal failured. Steroid resistancee.
Family history of renal disease- With light microscope , the
glomeruli appear normal or
mild increase in mesangial cell
- With electron microscope ,there is alteration and fusion
of epithelial cell foot
processes.
Post-streptococcal glomerulonephritis &Chronic renal failure
Post-streptococcal glomerulonephritis Chronic renal failure
Urine analysis: hematuria, mildproteinuria, granular and red cell
casts.
Blood chemistry:Increased serum urea and creatinine.
Reduced complement 3 level
(important).
Cultures and serology: Cultures from the throat and from
the skin.
Antistreptococcal antibodies (ASOtiter , anti- DNAase, anti-
hyaluronidase).
Renal function tests:persistent elevationof blood urea and serum creatinine
levels.
Acid base balance:chronic metabolicacidosis.
Serum phosphate:hyperphosphatemia. Serum calcium:hypocalcemia. Serum potassium :usually high. GFR: reduced.
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Urinary tract infection
diagnostic Other investigations Investigations of recurrent
urinary tract infection Urine analysis: (for
detection of pyuria):
- Presence of > 5 WBCsper high power field.
- Numerous cells areusually present in acute
infection. However , it is
unreliable because false
positive and false
negative results are
common.
Urine culture: (fordetection of bacteriuria):
- The only reliable test.- Presence of more than
one organism in culture
indicates contamination.
Abdominalultrasound:with
suspected
pyelonephritis,
pyonephrosis.
CBC and CRP:withsuspectedpyelonephritis.
Abdominal x-ray:to excluderadio-opaque urinary calculi.
Abdominal ultrasound:toexclude obstructive
uropathy.
Intravenous pyelography(IVP) :to exclude
obstructive uropathy. Evaluation of renal
function:to exclude chronic
renal failure.
Voidingcystourethrography
(important):to exclude
vesico-ureteral reflux.
Primary hypothyroidism
laboratory Imaging
Serum T4 level:low (normal range: 5-12 microgram/dl)
TSH:high (normal range: 0.5-4 mU/L).markedly raised (above 50 mU/L)
Delayed bone age:Detected radiologically. Characteristic
for congenital hypothyroidism.
Radioactive iodine assay:Essential for diagnosis of the cause of
hypothyroidism.
Type I diabetes mellitus
Laboratory
Fasting blood glucose:venous sample > 126 mg/dl. Two hours post prandial:venous sample >200 mg/dl. Random blood glucose sample :>200 mg/dl (with presence of symptoms of diabetes). Acid-base balance:metabolic acidosis (low pH and bicarbonate). Urine analysis:glycosuria and ketonuria.