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Congenital Toxoplasmosis

Toxoplasma Embryofetopathy

Congenital toxoplasmosis results from the vertical transmission of Toxoplasma gondii, a common protozoan parasite, from an infected pregnant woman to her fetus. The clinical presentation in the neonate is varied and may include a constellation of CNS manifestations and severe long-term sequelae. The diagnosis is based on thorough history, physical exam, laboratory testing, and imaging.


Presentation

Congenital toxoplasmosis is caused by Toxoplasma gondii, a common protozoan parasite [1]. In congenital cases, this organism is transmitted from the mother to the fetus through the placenta. The earlier the infection during pregnancy, the more severe the clinical symptoms [2]. More than half of healthy pregnant women with primary infection are asymptomatic while those with symptoms exhibit low-grade fever, fatigue, myalgia, and lymphadenopathy. Approximately 25% of infected pregnant women will transmit the infection to the fetus [3].

Risk factors include having a cat, exposure to cat litter or contaminated soil, consumption of unfiltered water, raw or insufficiently cooked meat, or raw or dirty fruits or vegetables [3] [4] [5].

While three-quarters of neonates with congenital toxoplasmosis are asymptomatic, the clinical presentation in affected patients is variable and includes a vast array of manifestations [2]. This illness is characterized by a classic triad of hydrocephalus, chorioretinitis, and intracranial calcifications [2]. Moreover, severe cases could feature microcephaly, fever, rash, jaundice, hepatosplenomegaly, seizures, sepsis-like illness, meningitis, and encephalitis [2] [6]. Further possible manifestations include but are not limited to deafness, thrombocytopenia, myocarditis, pneumonitis, respiratory distress, and nephrotic syndrome [2].

Complications

Up to 85% will develop long-term manifestations such as chorioretinitis, blindness, deafness, and developmental delay [2]. These sequelae may occur later in the patient's life [7] [8].

Physical exam

Patients with congenital toxoplasmosis may exhibit findings such as a fever, rash, lymphadenopathy, hepatosplenomegaly. Affected neonates are likely to feature microcephaly or macrocephaly accompanied by bulging fontanelles and abnormal ophthalmologic findings.

Anemia
  • We present a 7-wk-old white male, delivered at 38 wk of gestation, who shortly after birth was found to have hepatosplenomegaly and anemia; he developed liver failure and ascites with persistent anemia during the first week of life.[ncbi.nlm.nih.gov]
  • The newborn may have a low birth weight, enlarged liver and spleen, jaundice, anemia, petechiae, and eye damage.[clinicaltrials.gov]
Epilepsy
  • Microencephaly, intellectual disability, vision impairment, hydrocephalus, and epilepsy are common outcomes of congenital toxoplasmosis.[medlink.com]
  • Meta-analysis of three case controlled studies and an ecological study into the link between cryptogenic epilepsy and chronic toxoplasmosis infection. Seizure 2007; 16: 657-63 pmid: 17604653. Koseoglu E, Yazar S, Koc I.[who.int]
  • Meta-analysis of three case controlled studies and an ecological study into the link between cryptogenic epilepsy and chronic toxoplasmosis infection.[ncbi.nlm.nih.gov]
Precocious Puberty
  • All three children were growth hormone (GH) deficient, two were gonadotropin deficient and one had precocious puberty in addition to central diabetes insipidus (DI).[ncbi.nlm.nih.gov]
Jaundice
  • Because biliary atresia can coexist with either congenital infection or inborn errors of metabolism, evaluation for an obstructive etiology of jaundice in infants with a recognized cause of intrahepatic cholestasis is necessary.[ncbi.nlm.nih.gov]
  • Moreover, severe cases could feature microcephaly, fever, rash, jaundice, hepatosplenomegaly, seizures, sepsis-like illness, meningitis, and encephalitis.[symptoma.com]
  • The newborn may have a low birth weight, enlarged liver and spleen, jaundice, anemia, petechiae, and eye damage.[clinicaltrials.gov]
Hepatomegaly
  • Intracranial calcifications, micro- or macrocephaly, ventricular dilatation and hydrocephalus, hepatomegaly, splenomegaly, cardiomegaly, ascites and intrauterine growth retardation can be observed in infected fetuses.[orpha.net]
Flushing
  • After stratification according region of residence (rural or urban/peri-urban), home with flush toilet and consumption of treated water were protective against the disease only in the rural stratum.[ncbi.nlm.nih.gov]
Flaccid Paralysis
  • A 4-week-old female newborn developed ascending flaccid paralysis and radiologic evidence of myelitis; the diagnosis of congenital toxoplasmosis was confirmed by the presence of Toxoplasma gondii-specific immunoglobulins in both mother and infant, and[ncbi.nlm.nih.gov]
Bulging Fontanelle
  • Affected neonates are likely to feature microcephaly or macrocephaly accompanied by bulging fontanelles and abnormal ophthalmologic findings.[symptoma.com]
Polyuria
  • He had polyuria and hypernatremia on admission and responded to Intranasal desmopressin acetate with the normalization of above mentioned findings.[ncbi.nlm.nih.gov]

Workup

In neonates and infants suspected to have congenital toxoplasmosis, the workup should include a careful consideration of the maternal history and all possible risk factors, a thorough physical exam including ophthalmologic assessment, and the appropriate studies.

Diagnostic tests

Prenatal diagnosis is confirmed by the demonstration of Toxoplasma gondii in the amniotic fluid and/or fetal tissue through various techniques [9]. Polymerase chain reaction (PCR) of the amniotic fluid is the most commonly used method and is typically diagnostic [9] [10]. Moreover, PCR can be performed on cerebrospinal fluid (CSF), blood, or other bodily fluids [11]. Other serologic tests include the Sabin-Feldman dye test, which is a reference study and not widely available, and the indirect fluorescent antibody (IFA) and indirect hemagglutination tests. Also, the organism can be isolated with mouse inoculation.

Of importance, Toxoplasma gondii - specific IgM antibodies have a prolonged presence, which makes it difficult to interpret whether the current infection is acute of chronic [2]. However, an IgG avidity test is more accurate in diagnosing an acute infection and pinpointing the time of infection [12] [13]. This is best performed early in pregnancy.

The diagnosis of congenital toxoplasmosis in an infant is confirmed by the persistent presence of Toxoplasma gondii - specific IgG by the twelveth month of life [9]. Note that IgA and IgE enzyme-linked immunosorbent assay (ELISA) should be obtained once the infant's Toxoplasma gondii - specific IgM is negative.

Further laboratory studies are also essential. For example, a complete blood count (CBC) with a differential analysis in affected individuals is associated with thrombocytopenia, lymphocytosis, and monocytosis [2]. Additionally, CSF analysis typically reveals xanthochromia and pleocytosis. Other important tests include plasma creatinine levels, liver function tests (LFTs), as well as urinalysis and urine culture.

Imaging

Computed tomography (CT) scan and magnetic resonance imaging (MRI) of the brain are useful for demonstrating intracranial calcifications, lesions, and other pathologies such as hydrocephalus.

Fetal assessment should include prenatal ultrasonography, which detects associated abnormalities.

Xanthochromia
  • Additionally, CSF analysis typically reveals xanthochromia and pleocytosis. Other important tests include plasma creatinine levels, liver function tests (LFTs), as well as urinalysis and urine culture.[symptoma.com]
Plasmodium Falciparum
  • falciparum/immunology Plasmodium falciparum/isolation & purification Polymerase Chain Reaction Postpartum Period Pregnancy Pregnancy Complications, Parasitic/diagnosis* Pregnancy Complications, Parasitic/drug therapy Pregnancy Complications, Parasitic[ncbi.nlm.nih.gov]

Treatment

  • Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased.[ncbi.nlm.nih.gov]

Prognosis

  • We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients.[ncbi.nlm.nih.gov]
  • Fortunately, serious neonatal forms and severe neurological impairment have become rare, but prompt treatment of children with convulsions, abnormal muscle tone, hydrocephalus, may improve the prognosis and result in almost normal outcome.[jpnim.com]

Etiology

  • Although multifactorial in etiology, maternal infection is primarily attributed to the consumption of contaminated meat or water. Infection and transmission to the fetus may result in devastating neurologic impairment.[ncbi.nlm.nih.gov]
  • Because biliary atresia can coexist with either congenital infection or inborn errors of metabolism, evaluation for an obstructive etiology of jaundice in infants with a recognized cause of intrahepatic cholestasis is necessary.[journals.lww.com]
  • Etiology CTX is caused by the mother's primo-infection by Tg, an intracellular protozoan parasite of the Apicomplexa phylum, and transmission to the fetus by trans-placental infection. Nearly 25% of exposed fetuses are infected.[orpha.net]

Epidemiology

  • But detailed understanding of its epidemiology emerged only after 1970 with the discovery of its life cycle.[ncbi.nlm.nih.gov]
  • A Network Resource will be needed for: i) the development of epidemiological study protocols for the network; ii) the day to day management of the epidemiological studies, including data collection, liaison with clinicians and monitoring data collection[cordis.europa.eu]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Infection with Toxoplasma gondii. Physical Examination List of classic and atypical findings which have been reported.[eyewiki.aao.org]
  • The mothers were not immunocompromised, thus excluding toxoplasmosis reactivation due to immunodeficiency. 2 Different pathophysiological mechanisms may be suggested and may be illustrated by our two cases.[bjo.bmj.com]

Prevention

  • OBJECTIVES: The aim of the study was to evaluate obstetric care of pregnant women with regard to prevention of congenital toxoplasmosis.[ncbi.nlm.nih.gov]

References

Article

  1. Jones JL, Kruszon-Moran D, Wilson M, et al. Toxoplasma gondii infection in the United States: seroprevalence and risk factors. Am J Epidemiol. 2001;154(4):357–365.
  2. McAuley JB. Congenital Toxoplasmosis. J Pediatric Infect Dis Soc. 2014;3(Suppl 1):S30-S35.
  3. Cortina-Borja M, Tan HK, Wallon M, et al. Prenatal Treatment for Serious Neurological Sequelae of Congenital Toxoplasmosis: An Observational Prospective Cohort Study. Fisk NM, ed. PLoS Medicine. 2010;7(10):e1000351.
  4. Baril L, Ancelle T, Goulet V, et al. Risk factors for Toxoplasma infection in pregnancy: a case-control study in France. Scand J Infect Dis. 1999;31(3):305–309.
  5. Cook AJ, Gilbert RE, Buffolano W, et al. Sources of toxoplasma infection in pregnant women: European multicentre case-control study. European Research Network on Congenital Toxoplasmosis. BMJ. 2000;321(7254):142–147.
  6. Stillwaggon E, Carrier CS, Sautter M, McLeod R. Maternal Serologic Screening to Prevent Congenital Toxoplasmosis: A Decision-Analytic Economic Model. Webster JP, ed. PLoS PLoS Negl Trop Dis. 2011;5(9):e1333.
  7. Jones J, Lopez A, Wilson M. Congenital toxoplasmosis. Am Fam Physician. 2003;67(10):2131-2138.
  8. Berrebi A, Assouline C, Bessieres MH, et al. Long-term outcome of children with congenital toxoplasmosis. Am J Obstet Gynecol. 2010; 203(6):552.e1-6.
  9. Pomares C, Montoya JG. Laboratory Diagnosis of Congenital Toxoplasmosis. Kraft CS, ed. J Clin Microbiol. 2016; 54(10):2448-2454.
  10. Hohlfeld P, Daffos F, Costa JM, et al. Prenatal diagnosis of congenital toxoplasmosis with a polymerase-chain-reaction test on amniotic fluid. N Engl J Med. 1994;331(11):695–699.
  11. Bonfioli AA, Orefice F. Toxoplasmosis. Semin Ophthalmol. 2005; 20(3):129-141.
  12. Jenum PA, Stray-Pedersen B, Gundersen AG. Improved diagnosis of primary Toxoplasma gondi infection in early pregnancy by determination of antitoxoplasma immunoglobulin G avidity. J Clin Microbiol. 1997;35(8):1972–1977.
  13. McAuley JB, Jones JL, Singh K. Manual of Clinical Microbiology. 11th ed. Washington DC: ASM Press; 2014. Toxoplasma.

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Last updated: 2019-06-28 10:20