Investigations NMT11 Investigations in a comparative view Microcephaly

Laboratory Chromosomal study(karyotyping) If chromosomal abnormality is suspected TORCH screening For mother &childern Imaging CT or MRI Structural abnormalities of the brain or cerebral calcification

Short stature
Laboratory Chromosomal study(karyotyping) Turner syndrome Hormonal profile Pituitary ,thyroid, parathyroid & adrenal gland Growth hormone Unnecessary to subject children to assay until they have at least 6-12 months of height velocity follow up Calcium,phosphorus & alkaline phosphatase Rickets Imaging 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
Chromosomal 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

Imaging

Investigations NMT11
Prenatal diagnosis of down syndrome: Triple test Ultrasongraphy Aminocentesis: low of fetoprotein Chorionic villus sampling

Normal newborn
Biochemical screening Hypothyroidism Early diagnosis & therapy improves the prognosis Metabolic disorders ( PKU, homocystinuria, galactosemia&Marple syrup urine disease ) When milk feeding has been established between 6th& 8th day of life Cystic fibrosis Other general measures Vit K injection Heamorrhagic disease of the newborn Cord care Paint by alcohol Eye care Antibacterial eye drops

RDS
Laboratory Blood gases & electrolytes To asses severity Imaging Chest x-ray Diffuse reticulogranular pattern (areas of collapse) with air bronchogram (air in the major bronchi appears in contrast with the white background of collapsed alveoli as air bronchogram) Complete calcification of both lung fields (white lung )in severe conditions

Investigations NMT11 Neonatal hyperbilirubinemia

Unconjugated Serum 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 deficiency RBCs morphology & osmotic fragility test Spherocytosis CRP , ESR & cultures If septicemia is suspected Thyroid profile If not done in screening program conjugated
Serum bilirubin Increased total & direct bilirubin AST & ALT Increased Alkaline phosphatae& gamma glutamyltranspeptidase Increased Total serum proteins & albumin Decreased Prothrombin tine Prolonged 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 deficiency ferric chloride urine screening,if positive: aminogram tyrosinemia abdominal Ultrasonography choledochal cyst HIDA scan In extrahepatic biliary atresia:no excretion of dye in the intestine In idiopathic hepatitis : excretion of portal areas with fibrosis & bile duct proliferation Liver biopsy In extrahepatic biliary atresia:expansion of portal areas with fibrosis & bile duct proliferation In idiopathic hepatitis: gaint cell transformation

Investigations NMT11 Neonatal seizures

Laboratory 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 & amino acids in urine Imaging Cranial ultrasonography For hemorrhage CT scan For hypoxic ischemic encephalopathy, hemorrhage & malformations EEG Normal in one third of cases

Marasmus & KWO

Laboratory Blood picture Anemia &leucocytosis Plasma proteins Low 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 Imaging Chest x-ray To exclude chest infections

Investigations NMT11 Rickets

Laboratory Serum calcium Normal (N: 9-11 mg %) Or decrease in : Severe cases(depletion of ca in bones) Parathyroid exhaustion Shock therapy with vitamin D Imaging 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 line of provisional calcification ,separate form the lower end of bone (osteoid tissue in between) Healed rickets Thick dense transverse line of provisional calcification Improved bone density

Pneumonia
Laboratory CBC, ESR ,CRP To differentiate between bacterial & viral causes Culture & sensitivity test Imaging Chest X-ray Lobar pneumonia : lobar consolidation Bronchopneumonia: nodular or patchy infiltration Para hilar shadow with radiating streaks Exclude effusion as a complication

Investigations NMT11 Bronchiectasis

Laboratory Sputum culture & sensitivity test Imaging x-ray honey comb or soap bubble appearance CT Others Bronchography Bronchoscopy

Empyema (purulent pleurisy)

Laboratory Thoracocentesis The collected fluid is examined (culture & sensitivity) to determine the causative organism Imaging x-ray obliteration of costo-phernic angle by homogenous opacity raising to the axilla pushing the mediastinum to the opposite side

Bronchial asthma
Laboratory IgE(total & specific to common antigens) Increased in atopic asthma Skin 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 Imaging X-ray Hyper inflated chest

Investigations NMT11 TB
Laboratory
Skin 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 TB infection) 2. false negative result positive result =induration 10 mm or more Either : 1. TB infection 2. 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-fast organism) Culture on lowensteinjensen medium which requires 4-6 weeks Biopsy L.N. , skin, pleura

Imaging X-ray Any lesion e.gmediatinal shadow, miliray shadows CT

N.B. Negative results due to :

Investigations NMT11
1. Testing in the pre-allergic state after infection but before the development of sensitization which takes 6-8 weeks 2. 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 antibodies 3. PCR

Fallot tetralogy
Laboratory CBC: increase Hb&Hct (microcytosis if there is iron deficiency) Imaging & others

CXR: -Heart: Coeur en sabot (boot-shaped) Normal size (normal cardio-thoracic ratio) RV hypertrophy (acute cardio-phrenic angle)-uplifted apex Exaggerated cardiac waist (small pulmonary 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 before surgery)

Investigations NMT11 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 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 improved with age IF LARGE 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

Investigations NMT11 Atrial septal defect (ASD)

Ostiumsecundum CXR: -Heart: RV hypertrophy -Chest: lung plethora ( PVMs) ECG: RV hypertrophy ECHO: for anatomical defect(high defect in intratrial septum) Catheterization Ostiumprimum 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, to assess the magnitude of the shunt & the degree of mitral regurgitation

PDA&Coarctation of aorta PDA

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

Coarctation of aorta
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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Investigations NMT11 Aortic stenosis&Pulmonary stenosis Aortic stenosis

CXR: -Heart: LV enlargement -Chest: Normal pulmonary blood flow

Pulmonary stenosis
CXR: -Heart: RV hypertrophy -Chest: normal pulmonary blood flow ECG: RV hypertrophy, prolonged P-R interval ECHO: for anatomical defects(if valvular(fusion of cusps), supravalvular or subvalvular) Catheterization

ECG: LV enlargement ECHO: for anatomical defects (if valvular(fusion of cusps), supravalvular(as in William syndrome) or subvalvular)

Catheterization

Rheumatic fever
Acute phase reactants Evidence of recent streptococcal (degree of infection inflammation) Elevated ESR Antistreptolysin O titer (ASOT) > More than 50 mm is 300 Todd units(normal 150) st suggestive (normal 1 Antistreptokinase nd hour=3-7 mm ,2 Antihyaluronidase hour=8-15 mm) Throat culture( usually negative) Elevated CRP Leucocytosis Cardiac assessment

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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Investigations NMT11 Infective endocarditis

NB: The 3 cultures should be obtained within 24-48 hours Absence of vegetations dose not exclude infective endocarditis TEE is more accurate (vegetations) Laboratory Blood culture (repeated 3 times after proper skin decontamination) CBC:leukocytosis ESR & CRP Urine analysis :heamaturia Imaging CXR, ECG & ECHO(for vegetations & anatomical defects)

Iron deficiency anemia

laboratory 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 90-150 microgram/dl) Serum ferritin: Iron binding capacity: (normal level is 250-350/dl) Bone marrow:hyperactive (erythroid hyperplasia), not necessary in most cases imaging

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Investigations NMT11 thalassemia

Evidence of chronic hemolytic anemia 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. Diagnostic investigations Hb-electrophoresis Increased Hb-F (10-90%) betathalassemia major Increased Hb-A2 (above 4%) betathalassemia 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 as thalassemia Diagnostic investigations Blood film:sickle-shaped red cells in the peripheral blood Hb-electrophoresis:Hb-S In homozygous form: 90-100% & absent Hb-A In heterozygous form: 20-40% &HbA (60-80%)

Hereditary Spherocytosis
Evidence of chronic hemolytic anemia as thalassemia Diagnostic investigations Blood film:spherocytes in the peripheral blood. Osmotic fragility test:+ve

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Investigations NMT11

Immune Thrombocytopenic purpura (ITP)&HenochSchonleinpurpura

ITP CBC: Thrombpcytopenia (usually below 20.000/mm2) Anemia: if present, is related to blood loss WBCs count: normal with relative lymphocytosis Bone marrow:normal or megakaryocytes with defective budding Anti-platelet antibodies: in 60% of cases only Henoch-Schonlein CBC:normal platelet count Normal platelet function

Aplastic anemia & Acute leukemia

Aplastic anemia CBC:Pancytopenia (anemia, leucopenia & thrombocytopenia) Bone marrow:hypocellular with decreased precursors of the 3 blood elements Acute leukemia CBC:anemia and thrombocytopenia in the peripheral blood Bone marrow: o Blast cells: in acute lymphblastic leukemia (ALL) o Myeloid cells: in acute myeloid leukemia (AML)

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Investigations NMT11 Hemophilia A & Hemophilia B & Von Willibrand disease

Hemophilia A (classic hemophilia) Bleeding time (BT):normal Partial thromboplastine time (PTT):significant prolongation. Specific factor VIII assay:determines the severity. Hemophilia B (Christmas disease) Bleeding time (BT):normal Partial thromboplastine time (PTT): significant prolongation. Factor IX plasma level: Von Willibrand disease CBC:normal platelet count. Bleeding time (BT):prolonged. Platelet functions:aggregation . Partial thromboplastine time (PTT):prolonged. Reduced levels of VW protein, VW factor & factor VIII activity

Epilepsy
laboratory Fasting blood sugar, calcium , magnesium, urea , creatinine. CSF examination:to exclude CNS infection if the patient is febrile. imaging EEG. CT scan and MRI :when an intracranial organic lesion is suspected. specific plasma and urine aminogram or a TORCH screening:may be required if the clinical picture is suggestive (microcephaly, recurrent seizures, jaundice, hepatosplenomegaly, cataract, history of repeated abortion or still birth).

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Investigations NMT11 Meningitis

laboratory Lumbar puncture and CSF examination. Culture and sensitivity study of CSF. Antibody and PCR:for viral infection is done to exclude viral meningitis and encephalitis. Imaging Chest x-ray :if tuberculosis meningitis is suspected.

Encephalitis
laboratory imaging CSF examination :typical EEG, CT scan and MRI: CSF findings in viral a. EEG: a diffuse bilateral encephalitis include slowing of background a. Increased intracranial activity is the most pressure usual finding b. MRI :is helpful in postb. Variable pleocytosis (10-500 cells/mm3) infectious encephalitis mainly lymphocytes (foci of c. Increased protein demyelination). level (>40 mg/dl) Herpes simplex has a d. Normal glucose level special predilection to the temporal lobe. e. CSF should be also examined for bacteria, mycobacterium, fungi and viruses. Serologic tests: Hemagglutination inhibition and complement fixation tests ELISA others Brain biopsy:for culture and rapid viral antigen tests. Diagnosis of herpes simplex encephalitis is best done by brain biopsy

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Investigations NMT11 Brain abscess & Cerebral palsy

Brain abscess CT scan: rounded hypodense lesion. With contrast-enhanced CT, the abscess capsule shows a thin-walled regular ring enhancement. MRI. Cerebral palsy CT scan of the head.

Hydrocephalus & Microcephaly

Hydrocephalus CT scan of the head:in obstructive hydrocephalus, there is dilatataion only proximal to obstruction. In communicating hydrocephalus, all ventricles are dilated. Microcephaly Karyotype:if a chromosomal abnormality is suspected or of the child have dysmorphicfeatures , short stature and additional congenital anomalies. TORCH profile:for both mother and child should be done. CT scan and MRI:may identify structural abnormalities of the brain , intracranial calcification (as in toxoplasmosis and cytomegalovirus infection) or brain atrophy.

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Investigations NMT11 Guillainbarre syndrome & Progressive motor weakness &Duchenne muscular dystrophy
Guillainbarre CSF examination: (2 weeks after the onset of paralysis) shows increased proteins. Electromyography:is diagnostic of peripheral nerve affection. Progressive motor weakness With suspected brain disease:CT scan and MRI With suspected spinal cord lesion:CT scan or MRI of the spinal cord With suspected muscle disease:serum CPK, electromyography and muscle biopsy Duchenne Serum creatine phosphokinase (CPK):is elevated 10-200 times higher than normal. It is elevated before muscle weakness so it can be used as a screening test. Electromyography and muscle biopsy:(characteristic)

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Investigations NMT11 Nephrotic syndrome

laboratory Urine analysis:proteinuria (urinary proteins >40 mg/m2 /h). proteinuria in minimal change nephritic syndrome is selective (mainly albumin loss) Renal function tests and complement 3 : usually normal Serum albumin:hypoproteinemia (reduced serum albumin below 2.5 gm/dl) Serum cholesterol:hyperlipidemia (elevated plasma cholesterol and triglycerides) Others Renal biopsy :only indicated in a. Age < 1 year or >8 years b. Persistent hematuria or hypertension c. Renal failure d. Steroid resistance e. 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 Urine analysis: hematuria, mild proteinuria, 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 (ASO titer , anti- DNAase, antihyaluronidase). Chronic renal failure Renal function tests:persistent elevation of blood urea and serum creatinine levels. Acid base balance:chronic metabolic acidosis. Serum phosphate:hyperphosphatemia. Serum calcium:hypocalcemia. Serum potassium :usually high. GFR: reduced.

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Investigations NMT11 Urinary tract infection

diagnostic
Urine analysis: (for detection of pyuria): - Presence of > 5 WBCs per high power field. - Numerous cells are usually present in acute infection. However , it is unreliable because false positive and false negative results are common. Urine culture: (for detection of bacteriuria): - The only reliable test. - Presence of more than one organism in culture indicates contamination.

Other investigations Abdominal ultrasound:with suspected pyelonephritis, pyonephrosis. CBC and CRP:with suspected pyelonephritis.

Investigations of recurrent urinary tract infection

Abdominal x-ray:to exclude radio-opaque urinary calculi. Abdominal ultrasound:to exclude obstructive uropathy. Intravenous pyelography (IVP) :to exclude obstructive uropathy. Evaluation of renal function:to exclude chronic renal failure. Voiding cystourethrography (important):to exclude vesico-ureteral reflux.

Primary hypothyroidism
laboratory Serum T4 level:low (normal range: 512 microgram/dl) TSH:high (normal range: 0.5-4 mU/L). markedly raised (above 50 mU/L) Imaging 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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