Diagnosis of Congenital Toxoplasmosis
Congenital Toxoplasmosis Diagnosis: Book Excerpts
Diagnostic Tests for Congenital Toxoplasmosis: Online Medical Books
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for more information about diagnostis of Congenital Toxoplasmosis.
Jaundice in Infants – Direct:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
- Bile duct obstruction
–Biliary atresia: Represents the most frequent cause for liver transplantation in the pediatric patient; prompt diagnosis is crucial, as patient outcome is better if intervention comes before 60 days of life
–Choledochal cyst
–Common bile duct gallstone
–Choledochocele
–Bile duct stricture
–Alagille syndrome
–Caroli disease
–Congenital hepatic fibrosis
- Neonatal hepatitis
–Idiopathic hepatitis: Diagnosis of exclusion that should be made only when other causes are excluded; accounts for 60% of patients with neonatal cholestasis
–Infections: TORCH, hepatitis B, HIV, E. coli, adenovirus, enterovirus, parvovirus B16, tuberculosis, listeriosis, malaria
-
Metabolic disorders
–α-1 antitrypsin deficiency
–Cystic fibrosis
–Hypothyroidism
–Neonatal iron storage disease
–Amino acids: tyrosinemia
–Carbohydrates: Galactosemia, fructosemia
–Lipids: Niemann-Pick, Gaucher, Wolman,
cholesterol ester storage disease
–Mitochondropathies
–Bile acid synthetic disorders
–Peroxisomal: Zellweger syndrome
–Urea cycle defects
-
Toxins
–Total parenteral nutrition
–Drugs: Trimethaprim-sulfamethoxazole,
anticonvulsants
-
Miscellaneous
–Sepsis/hypoperfusion
–Erythrophagocytic lymphohistiocytosis
–Extracorporeal membrane oxygenation
–Trisomy 17, 18, 21
–Neonatal lupus erythematosus
–Donohue syndrome
–Rotor syndrome
–Dubin-Johnson syndrome
–Byler disease (PFIC type 1)
–Cholestasis of North-American Indians
–Nielsen syndrome
Workup and Diagnosis
-
History
–Prenatal/perinatal history: Infections, gestational age, birth weight, miscarriages, newborn screen
–Age of onset, activity level, oral intake, urine output, stool color, emesis, hematemesis, hematochezia, melena, bruising, bleeding, fever, developmental milestones, medications, formula type
-
Physical exam: Weight/length, icteris, dysmorphic features, cardiac murmur, ascites, abdominal distension, hepatosplenomegaly, edema, bruising, tone, reflexes
-
Labs (initial): Fractionated bilirubin (total, indirect, direct), AST, ALT, GGT, alkaline phosphatase, total protein, albumin, CBC, electrolytes including glucose, PT, PTT, blood/urine culture, U/A
-
- Labs (directed): Thyroid function tests, serum α-1 antitrypsin level, urine for reducing sugars, serum and urine amino acids, urine organic acids including succinylacetone, infectious serologies, serum iron levels, sweat test, consider Alagille genetic testing
-
Ultrasound provides best initial radiographic study for obstruction, hepatosplenomegaly
-
-
-
Hepatobiliary scintigraphy (HIDA scan)
-
Percutaneous liver biopsy
–Histology, virology, electron microscopy for bile duct expansion/paucity, storage disorders
-
Exploratory laparotomy and intraoperative cholangiogram to rule out biliary atresia
-
Consider X-ray for butterfly vertebrae (for Alagille)
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
Jaundice in Infants – Indirect:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
-
Icterus neonatorum (physiologic jaundice)
–The most common form of indirect jaundice in infants under 14 days of age
–Caused by increased bilirubin production with transient limited conjugation abilities
-
Breast-feeding jaundice
–Occurs in first week of life in 13% of breast-fed infants
–Secondary to poor volume intake
-
Breast-milk jaundice
–Occurs in about 2% of breast-fed infants after day 7 of life
–Secondary to glucuronidase in breast milk
-
Hematologic: Hemolysis increases bili load
–Rh incompatability
–ABO incompatability
–Glucose-6-phosphate dehydrogenase (G6PD)
deficiency
–Pyruvate kinase deficiency
–Hereditary spherocytosis
–Elliptocytosis
–Thalassemia
–Polycythemia
-
Extravascular blood
–Cephalohematoma
–Trauma
–Swallowed maternal blood
-
Endocrinologic
–Hypothyroidism
–Maternal diabetes
-
Sepsis
-
Metabolic
–Crigler-Najjar I
–Crigler-Najjar II (Arias syndrome)
–Crigler-Najjar III
-
Cardiopulmonary
–Congestive heart failure
–Patent ductus arteriosus
–Portal vein thrombosis
-
Anatomic
–Pyloric stenosis
–Duodenal atresia/stenosis
–Duodenal web
-
Drugs
–Oxytocin
–Sulfonamides
–Ceftriaxone
–Chuen-Lin
-
Lucey-Driscoll syndrome
Workup and Diagnosis
- History
–Prenatal/perinatal: Pregnancy complications, gestational age, maternal blood type/Rh, drug use, infections, delivery method, delivery intervention, birth weight, newborn screen results, previous miscarriages
–HPI: Onset of jaundice, feeding tolerance, appropriate weight gain, trauma, evidence of bleeding/bruising, urine output, stool output/diarrhea, emesis, lethargy, drug exposure
–Diet history: Breast- and/or formula-fed, length of time on each breast, latch strength
–Family history: Bleeding disorders, perinatal deaths, endocrinopathies
-
Physical exam
–Weight, overall appearance, level of jaundice, fontanelle size, cranial abnormalities, scleral icteris, mucous membranes, cardiac murmurs, hepatosplenomegaly, bruising, bleeding, reflexes, tone, seizures
-
Labs: Fractionated bilirubin (total, indirect, direct), CBC with smear, reticulocyte count
-
-
Hemolysis: Blood type/Rh, Coombs, hemoglobin electrophoresis
-
-
Thyroid function tests (check state newborn screen)
-
Limited value of imaging unless looking for obstruction or bleeding
-
Hearing evaluation if kernicterus likely
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
Toxoplasmosis:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
CONFIRMING DIAGNOSIS Identification of T. gondii in an appropriate tissue specimen confirms the diagnosis of toxoplasmosis.
Serologic tests may be useful and, in patients with toxoplasmosis encephalitis, computed tomography scans and magnetic resonance imaging disclose lesions.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Toxoplasmosis:
Diagnosis
(Handbook of Diseases)
Identification of T. gondii in an appropriate tissue specimen confirms toxoplasmosis. Serologic tests may be useful, and in patients with toxoplasmosis encephalitis, computed tomography and magnetic resonance imaging scans disclose lesions.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
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