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Investigations NMT11

1

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


ECG: RV hypertrophy ECHO: for anatomical

defect(high defect in intratrial

septum)

Catheterization

CXR:-Heart: biventricular enlargement


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


ECG: LV enlargement ECHO for study of anatomical

defects(persistence of the

ductusarteriosus)

Doppler: flow across the vessels

Catheterization


-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


-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


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


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.

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