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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 CBC Anemia in celiac or Chrons disease. CRP Raised in Chrons disease. 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
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Imaging
Plain X-ray Chest : pneumonia Abdomen :anal atresia Echocardigraphy: Cardiac anomalies Abdominal ultrasonography To exclude renal & gastrointestinal anomalies
Prenatal diagnosis of down syndrome: Triple test Ultrasongraphy Aminocentesis: low of fetoprotein Chorionic villus sampling
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Imaging
Chest X-ray abdominal X-ray Assists in the diagnosis of respiratory disorders and to confirm the position of the tracheal tube and central lines.
Haemoglobin, neutrophil count, platelet count Blood urea , creatinine, electrolytes Culture - blood CSF urine Blood glucose CRP/acute phase reactant Coagulation screen if indicated
RDS
Laboratory Blood gases & electrolytes To asses severity Imaging Chest x-ray Ground glass appearance 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
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 conjugated
Serum bilirubin Increased total & direct bilirubin AST & ALT Increased Alkaline phosphatae& gamma glutamyltranspeptidase Increased Total serum proteins & albumin
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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
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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
Neonatal seizures
Laboratory CBC, differential count & platelet count Blood culture Blood chemistry: Glucose ,calcium ,magnesium ,electrolytes & blood gases CSF analysis & culture Imaging Cranial ultrasonography For hemorrhage CT scan For hypoxic ischemic encephalopathy, hemorrhage & malformations EEG
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Investigations in Pediatrics
Specific tests for suspected cases TORCH screening ,ammonia level & amino acids in urine Normal in one third of cases
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Rickets
Laboratory Serum calcium Normal (N: 9-11 mg %) Or decrease in causes of tetany: 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
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Serum phosphorus Markedly decreased (normal 4.5-6.5mg %) Serum alkaline phosphatase High (earliest manifestation) Urine Phosphate & amino acids.
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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
respiratory Pneumonia
Laboratory Nasopharyngeal aspirate Useful to identify viral causes. CBC and acute-phase reactants Unhelpful in differentiating between viral and bacterial causes. Imaging Chest X-ray: may confirm the diagnosis but with the exception of a classic lobar pneumonia characteristic of Streptococcus pneumoniae. Cannot differentiate between bacterial and viral pneumonia. Showing cavities containing fluid and air is characteristic of staphylococcal pneumonia. Show consolidation,parapneumonic effusion (blunting of the costophrenic angle) or empyema. Ultrasound of the chest will distinguish between parapneumonic effusion and
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empyema.
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Bronchiectasis
Laboratory Imaging Sputum culture x-ray & sensitivity test honey comb or soap bubble appearance CT Others Bronchography Bronchoscopy
Bronchiolitis
Laboratory Nasopharyngeal secretions demonstrating binding of fluorescent antibody. Blood gas analysis (In severe cases only) show lowered arterial o2 and raised co2 tension. Imaging Chest X-ray: hyperinflation of the lungs (due to small airway obstruction, air trapping and often focal atelectasis.
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chest X-ray usually normal but may help to rule out other conditions. Hyper inflated chest
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
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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
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N.B: Negative results due to : 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
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3. PCR
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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)
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)
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Catheterization
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degree of mitral regurgitation
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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
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)
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ECG: LV enlargement ECHO: for anatomical defects (if valvular(fusion of cusps), supravalvular(as in William
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syndrome) or subvalvular) Catheterization
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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
Infective endocarditis
NB: The 3 cultures should be obtained within 24-48 hours 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)
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Absence of vegetations dose not exclude infective endocarditis TEE is more accurate (vegetations)
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Thalassemia
Evidence of chronic hemolytic anemia CBC: Microcytic hypochromic anemia Increased reticulcytic count Serum iron & serum ferritin: Iron binding capacity: Unconjugated hyperbirubinemia Diagnostic investigations Laboratory: Hb-electrophoresis Increased Hb-F (10-90%)betathalassemia major Increased Hb-A2 (above 4%) betathalassemia minor
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Urine analysis:urobilinogen Blood film:target cells, anisocytosis&poikilocytosis Stool analysis:stercobilinogen Bone marrow: hyperactive (erythroid Imaging: hyperplasia), not necessary. Skull x-ray: shows wide deploic space, but this finding is late & not important for diagnosis
Hereditary Spherocytosis
Evidence of chronic hemolytic anemia as thalassemia
G6PD deficiency
To diagnose Acute Hemolytic Anemia
CBC:
o Acute anemia with fragmented RBCs o Reticulocytosis >5% o Unconjugated bilirubin: increased
To diagnoses G6PD def. Estimation of the activity of the enzyme 3 weeks after the attack. (immediately after the attack, there is high level of reticulocytes that have relatively higher enzymatic activity that may give false normal results)
Urine:
Hemoglobinuria
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Specific factor VIII assay:determines the severity. Factor IX plasma level:
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aggregation. Partial thromboplastine time (PTT):prolonged. Reduced levels of VW protein, VW factor & factor VIII activity
Neurology 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).
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:iftuberculous meningitis is suspected.
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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 infectious encephalitis (10-500 cells/mm3) (foci of mainly lymphocytes demyelination). c. Increased protein Herpes simplex has a level (>40 mg/dl) special predilection to d. Normal glucose level 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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Cerebral palsy CT scan of the head: o Location & extent of the lesion. o Associated malformation or brain atrophy. EEG
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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
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, anti
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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hyaluronidase).
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Other investigations Abdominal ultrasound:with suspected pyelonephritis, pyonephrosis. CBC and CRP:with suspected pyelonephritis.
Chronic RF
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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Imaging Delayed bone age: Detected radiologically. Characteristic for congenital hypothyroidism. Radioactive iodine assay: Essential for diagnosis of the cause of hypothyroidism.
Diabetes mellitus
Type 1 : 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. Increased glycosylated Hb. Type 2: Suspected if there is family history DKA: Blood glucose (>11.1 mmol/L) Urea and electrolytes, creatinine (dehydration) Blood gas analysis (severe metabolic acidosis) Urinary glucose and ketones (both are present) Evidence of a precipitating cause, e.g. infection (blood and urine cultures performed) Cardiac monitor for T-wave changes of hypokalaemia Weight
Laboratory
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Abdominal masses
laboratory
Bone marrow aspiration: Neuroblastoma or lymphoma RFT: Bilateral renal mass
Biopsy
Laparotomy: (if malignancy is suspected)
Viral hepatitis
Acute viral hepatitis
Bilirubin: May be normal in the early stages, particularly with metabolic disease. Transaminases (AST , ALT): Elevated (10-100 times normal), Alkaline phosphatase: Increased Coagulation: abnormal (PT is prolonged) Plasma ammonia: Elevated. >150mcg%
Chronic viral hepatitis Laboratory: o Liver function test: abnormal o Hepatitis markers: +ve o Igs & auto Abs: in auto immune hepatitis. Imaging: o US o Endoscopy Liver biopsy: o Portal tract infiltration with chronic inflammatory cells.
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Acid-base balance: Hypokalemia , Hyponatremia & Metabolic acidosis. EEG: acute hepatic encephalopathy CT scan: May demonstrate cerebral oedema.
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o Bridging fibrosis between adjacent porto-portal or portocentral areas.
Cholestasis
Total and direct bilirubin: Elavated AST and ALT: Elevated Alkaline phosphatase and gamma glutamyl transpeptidase: Elevated Total serum proteins and albumin: Decreased Prothrompine time: Prolonged
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