Edit concept Question Editor Create issue ticket

TORCH Syndrome

Toxoplasma Rubella Cytomegalovirus and Herpes Simplex Mixed Infection

TORCH syndrome consists of infections in a neonate or a fetus due to any of the following: Toxoplasma gondii, rubella virus, cytomegalovirus, and herpes simplex virus. These infections are grouped together as their clinical manifestations are almost identical and they account for a majority of the perinatal morbidity and congenital anomalies. They rarely cause symptoms in a pregnant woman but they influence the pregnancy and are an important cause of a poor fetal outcome.


Presentation

The acronym TORCH means toxoplasmosis, rubella virus, cytomegalovirus (CMV), and herpes simplex viruses. TORCH syndrome consists of a cluster of similar manifestations caused by these agents which account for most of the perinatal infections associated with serious fetal and neonatal morbidity and mortality [1] [2]. Effects of the infections include spontaneous abortions, intrauterine fetal death, fetal growth restriction, congenital fetal anomalies, premature deliveries, and stillbirths [2]. Risk factors for TORCH infection include pregnancy and immunocompromised state [3].

Toxoplasma gondii is a protozoan parasite which causes toxoplasmosis. Women become infected after consuming contaminated food or water. Following ingestion of the cysts, there is an incubation period ranging from one to three weeks. The infected woman usually does not develop any clinical manifestations but if pregnant, may suffer miscarriages, stillbirth, or may deliver a baby with congenital malformations [4] [5].

Rubella is a viral disease acquired through droplet infection. A pregnant woman, when infected, may have mild symptoms or may be asymptomatic but can transfer the infection vertically to her fetus via the placenta [6]. This can result in congenital anomalies if the infection occurs during the period of fetal organogenesis leading to fetal cardiac defects, cataracts, and hearing loss which together constitute the congenital rubella syndrome [7].

CMV infection is transmitted via direct contact with infected body fluids [8]. The incubation period ranges from one to three months and a pregnant woman can transmit the infection to the fetus transplacentally leading to fetal growth retardation, intracranial calcification with microcephaly, hepatosplenomegaly, chorioretinitis, thrombocytopenic purpura, and anemia [9].

Herpes simplex viral infection can be due to herpes simplex virus 1 (HSV1) or herpes simplex virus 2 (HSV2). HSV1 is transmitted by contacts of non-sexual nature while HSV2 is transmitted sexually. A majority of genital herpes infections in pregnancy are asymptomatic but can cause significant fetal morbidity and mortality with spontaneous abortions, premature delivery, and neonatal herpes infection [10] [11] [12] [13].

Fever
  • They include hepatosplenomegaly (enlargement of the liver and spleen), fever, lethargy, difficulty feeding, anemia, petechiae, purpurae, jaundice, and chorioretinitis.[en.wikipedia.org]
  • Rubella is a viral infection characterized by fever, upper respiratory infection, swelling of the lymph nodes, skin rash, and joint pain.[rarediseases.org]
  • Symptoms and Signs Symptoms of a TORCH infection may include fever and poor feeding. An enlarged liver and spleen (hepatosplenomegaly) is typical, as is the yellowish discoloration of the skin and eyes called jaundice.[medigest.uk]
Fatigue
  • Cytomegalovirus: If you have this infection, you will be treated for individual symptoms like fatigue, fever and hepatomegaly. Treatment for neonates with CMV is not very effective. 4.[momjunction.com]
Splenomegaly
  • Cytomegalic inclusion disease can include hepatomegaly, splenomegaly, paraventricular calcification, and intrauterine growth retardation.[ncbi.nlm.nih.gov]
  • Although the signs and symptoms may vary among those affected, the most common include: chorio-retinitis, splenomegaly, cerebral calcifications, epilepsy, anemia, febrile episodes, alterations of cerebrospinal fluid, etc.[lifepersona.com]
  • The major findings in congenital rubella include hepatomegaly and hepatitis, splenomegaly with extramedullary hematopoeisis, congenital heart disease (patent ductus arteriosus, ventricular septal defect, atrial septal defect, pulmonic stenosis), myocardial[healio.com]
  • Enlarged liver or spleen (Hepatomegaly and splenomegaly). Low platelet level. leads to hemorrhagic pneumonitis and petechiae. Jaundice due to hemolytic anemia. Cerebral calcification. Micrencephaly.[labpedia.net]
Oral Ulcers
  • In herpes simplex virus infections, 80% of symptomatic infants show single or grouped cutaneous vesicles, oral ulcers, or conjunctivitis. Extracutaneous signs and symptoms are variable and can be severe.[ncbi.nlm.nih.gov]
Jaundice
  • They include hepatosplenomegaly (enlargement of the liver and spleen), fever, lethargy, difficulty feeding, anemia, petechiae, purpurae, jaundice, and chorioretinitis.[en.wikipedia.org]
  • […] addition, affected infants may develop areas of bleeding, resulting in reddish or purplish spots or areas of discoloration visible through the skin (petechia or purpura); yellowish discoloration of the skin, whites of the eyes, and mucous membranes (jaundice[rarediseases.org]
  • Cutaneous manifestations, including petechiae, purpura, jaundice, and dermal erythropoiesis, are commonly seen in toxoplasmosis, rubella, and cytomegalovirus infections.[ncbi.nlm.nih.gov]
  • An enlarged liver and spleen (hepatosplenomegaly) is typical, as is the yellowish discoloration of the skin and eyes called jaundice. Hearing impairment, eye problems, mental retardation, autism, and death can be the result of TORCH infections.[medigest.uk]
  • Symptoms - TORCH syndrome * Enlarged liver * Enlarged spleen * Chorioretinitis * Fetal malformations * Jaundice * Low blood platelet level * Central nervous system abnormalities * Asymptomatic manifestations may occur later in life * Brain infection *[checkorphan.org]
Hepatosplenomegaly
  • They include hepatosplenomegaly (enlargement of the liver and spleen), fever, lethargy, difficulty feeding, anemia, petechiae, purpurae, jaundice, and chorioretinitis.[en.wikipedia.org]
  • These may include fever; difficulties feeding; small areas of bleeding under the skin, causing the appearance of small reddish or purplish spots; enlargement of the liver and spleen (hepatosplenomegaly); yellowish discoloration of the skin, whites of[listeningears.in]
  • However, there are some common signs and symptoms: generalized growth retardation, fever, hepatosplenomegaly, anemia, petechiae, Hydrocephalus, Calcifications, etc. (Díaz Villegas, 2016).[lifepersona.com]
  • The incubation period ranges from one to three months and a pregnant woman can transmit the infection to the fetus transplacentally leading to fetal growth retardation, intracranial calcification with microcephaly, hepatosplenomegaly, chorioretinitis,[symptoma.com]
Hepatomegaly
  • On the contrary, findings resembling congenital infectious diseases including neonatal icterus, hyperbilirubinemia, thrombocytopenia, and hepatomegaly, affect less than half of the patients.[ncbi.nlm.nih.gov]
  • These may include listlessness (lethargy), fever, difficulties feeding, enlargement of the liver and spleen (hepatomegaly), and decreased levels of the oxygen-carrying pigment (hemoglobin) in the blood (anemia).[rarediseases.org]
  • Jaundice and hepatomegaly reflect liver involvement, while thrombocytopenia and petechiae are hematologic manifestations.[healio.com]
Hearing Impairment
  • Causes of Hearing Impairment January 24, 2017 The Auditory System and Voice Production January 27, 2017 TORCH syndrome is a cluster of symptoms.[listeningears.in]
  • Severely affected newborns and infants may have visual and/or hearing impairment, heart defects, calcium deposits in the brain, and/or other abnormalities.[rarediseases.org]
  • Hearing impairment, eye problems, mental retardation, autism, and death can be the result of TORCH infections. Discuss TORCH Syndrome in our forums Discuss TORCH Syndrome with other members of Medigest in our forums.[medigest.uk]
  • The child had delayed developmental milestones, hypertonic reflexes, and a bilateral sensorineural hearing impairment.[nature.com]
Lethargy
  • They include hepatosplenomegaly (enlargement of the liver and spleen), fever, lethargy, difficulty feeding, anemia, petechiae, purpurae, jaundice, and chorioretinitis.[en.wikipedia.org]
  • These may include listlessness (lethargy), fever, difficulties feeding, enlargement of the liver and spleen (hepatomegaly), and decreased levels of the oxygen-carrying pigment (hemoglobin) in the blood (anemia).[rarediseases.org]
  • […] abortion, stillbirth, intrauterine growth retardation, or premature delivery. observations At delivery and during the first days after birth an infant infected with any one of the organisms may demonstrate various clinical manifestations, such as fever, lethargy[medical-dictionary.thefreedictionary.com]
  • , irritability, tremor, poor feeding, temperature instability, full anterior fontanelle Disseminated disease Multiple organ involvement (CNS, skin, eye, mouth, lung, liver, adrenal glands) May appear septic – fever/hypothermia, apnea, irritability, lethargy[pedclerk.bsd.uchicago.edu]
Convulsions
  • With CNS involvement, severe neurologic sequelae, such as convulsions and mental retardation, are common.12 Laboratory diagnosis.[healio.com]
  • Despite the fact that many sufferers present an asymptomatic course for many years, syphilis can cause some late manifestations: convulsive episodes, deafness or intellectual disability, among others.[lifepersona.com]
Stroke
  • National Institute of Child Health and Human Development 31 Center Dr Building 31, Room 2A32 Bethesda, MD 20892 Toll-free: (800) 370-2943 Email: NICHDInformationResourceCenter@mail.nih.gov Website: NIH/National Institute of Neurological Disorders and Stroke[rarediseases.org]
Paresis
  • Both brothers showed extensive intra- and extra-cranial calcifications, thrombocytopenia, a septum pellucidum cyst, one-sided paresis of the diaphragm, and metaphyseal changes on X-ray scans resembling intrauterine infection.[ncbi.nlm.nih.gov]
Akinesia
  • The differential diagnosis of intracranial calcification in an infant includes congenital infections like TORCH group, various genetic conditions such as AGS, CS, fetal akinesia deformation sequence (FADS), and Fowler type.[asianjns.org]

Workup

It is difficult to diagnose TORCH infections in pregnant women clinically as patients are often asymptomatic and do not manifest any signs. Serology testing forms the mainstay with the detection of corresponding antibodies. Polymerase chain reaction (PCR) is also used to identify the infection and for subsequent follow-up [3]. An adequate diagnosis may require a laboratory which offers specialized tests as serology is difficult to interpret, especially in CMV infection.

A primary CMV infection can be diagnosed in a pregnant woman by positive CMV IgM, IgG, and low IgG avidity, while more precise methods are composed of PCR testing of urine or serum samples and a rapid virus isolation. PCR is also used to detect HSV from genital lesions in pregnancy. Cultures from infected skin, oral and ocular lesions or cerebrospinal fluid (CSF) in infected neonates can help to diagnose HSV infection. Rubella can be detected in a pregnant woman with IgM and IgG antibody levels [14]. In ambiguous cases, amniotic fluid PCR and viral culture may be required to confirm the diagnosis.Ultrasonography is indicated to detect fetal complications resulting from these perinatal infections. Findings include fetal growth retardation, cardiac defects, microcephaly and intracranial calcifications in the case of CMV infection.

Ultrasonography is indicated to detect fetal complications resulting from TORCH infections. Findings may include fetal growth retardation, cardiac defects, microcephaly, and intracranial calcifications. A fetal echocardiogram can be performed if cardiac anomalies are detected on ultrasonography. Invasive tests like chorionic villus sampling and amniocentesis can also be performed to confirm TORCH syndrome but these tests are associated with a high incidence of fetal morbidity and loss.

Invasive tests like chorionic villus sampling and amniocentesis can also be performed to confirm TORCH syndrome but these tests are associated with a significant possibility of complications.

Posterior Fossa Cysts
  • Dandy–Walker syndrome is a group of congenital hind brain anomaly with large posterior fossa cyst.[asianjns.org]

Treatment

  • The treatment of this medical condition usually focuses on the treatment of symptoms and medical complications. In the case of severe alterations during pregnancy, intrauterine transfusion may be used.[lifepersona.com]
  • Treatment - TORCH syndrome Treatment aims to relieve symptoms and prevent complications. In the immunosuppressed patient, CMV may be treated with acyclovir, ganciclovir, valganciclovir, cidofovir and, possibly, foscarnet.[checkorphan.org]
  • The treatment of TORCH syndrome is mainly supportive and depends on the symptoms present; medication is an option for herpes and cytomegalovirus infections. Developing countries are more severely affected by TORCH syndrome.[en.wikipedia.org]
  • For infants with toxoplasmosis, treatment may include administration of the medication pyrimethamine with sulfadiazine. Herpes simplex may be treated with the antiviral agent acyclovir.[rarediseases.org]
  • No specific therapy for congenital rubella or cytomegalovirus infections has been established, and so treatment is primarily supportive.[ncbi.nlm.nih.gov]

Prognosis

  • In this review we discuss etiology, epidemiology, clinical, laboratory, radiologic, and pathologic findings, differential diagnosis, therapy, course, and prognosis of each of these congenital infections.[ncbi.nlm.nih.gov]
  • Prognosis - TORCH syndrome Not supplied. Treatment - TORCH syndrome Treatment aims to relieve symptoms and prevent complications.[checkorphan.org]
  • Treatment and prognosis The treatment and prognosis depends upon the underlying cause. See smartphone apps to check your skin. [Sponsored content] Related information[dermnetnz.org]

Etiology

  • In this review we discuss etiology, epidemiology, clinical, laboratory, radiologic, and pathologic findings, differential diagnosis, therapy, course, and prognosis of each of these congenital infections.[ncbi.nlm.nih.gov]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Available from: Introduction The etiology of extensive intracranial calcification in an infant mainly includes various congenital infections such as those caused by toxoplasmosis, rubella, cytomegalovirus (CMV), herpes (TORCH) group of organisms acquired[asianjns.org]
  • Exhaustive TORCH Pathogen Diagnostics Corroborate Zika Virus Etiology of Congenital Malformations in Northeastern Brazil. mSphere, 3,. PMID: 30089647 DOI. Vilibic-Cavlek T, Ljubin-Sternak S, Ban M, Kolaric B, Sviben M & Mlinaric-Galinovic G. (2011).[embryology.med.unsw.edu.au]
  • The etiologies of the second category are less likely to cause fetal abnormalities in the next pregnancies because they are mostly environmental teratogens.[doi.org]

Epidemiology

  • In this review we discuss etiology, epidemiology, clinical, laboratory, radiologic, and pathologic findings, differential diagnosis, therapy, course, and prognosis of each of these congenital infections.[ncbi.nlm.nih.gov]
  • Gabriele Halwachs-Baumann, Epidemiology - the influence of socioeconomic differences, Congenital Cytomegalovirus Infection, 10.1007/978-3-7091-0208-4_3, (53-73), (2011).[dx.doi.org]
Sex distribution
Age distribution

Pathophysiology

  • RUBELLA In 1941, Gregg discovered that maternal rubella during the first trimester of pregnancy was associated with an increased incidence of cataracts, deafness, and congenital heart disease.1 Most of our knowledge of the pathophysiology of congenital[healio.com]
  • Pathophysiology TORCH profile includes the following tests: Toxoplasmosis antibody. Rubella antibody. Herpes Simplex. Cytomegalovirus some people include syphilis as well.[labpedia.net]
  • […] infection with Toxoplasma gondii, cytomegalovirus, or herpes simplex virus (HSV) Distinguishing between infection caused by HSV types 1 and 2, especially in patients with subclinical or unrecognized HSV infection Clinical Information Discusses physiology, pathophysiology[mayomedicallaboratories.com]

Prevention

  • Presence of IgM is diagnostic and Persistence of IgG beyond 6-9 months is diagnostic TORCH syndrome can be prevented by treating an infected pregnant person, thereby preventing the infection from affecting the fetus.[en.wikipedia.org]
  • Prevention. With widespread use of effective live vaccines for the past decade, rubella is now largely a preventable disease.[healio.com]
  • Prevention - TORCH syndrome Not supplied. Diagnosis - TORCH syndrome Not supplied. Prognosis - TORCH syndrome Not supplied. Treatment - TORCH syndrome Treatment aims to relieve symptoms and prevent complications.[checkorphan.org]
  • There’s no cure for congenital rubella syndrome, so prevention is key. If you’re thinking of becoming pregnant and you haven’t already had the MMR vaccine, you should get it at least 28 days before you conceive.[webmd.com]

References

Article

  1. Stegmann BJ, Carey JC. TORCH Infections. Toxoplasmosis, Other (syphilis, varicella-zoster, parvovirus B19), Rubella, Cytomegalovirus (CMV), and Herpes infections. Curr Women's Health Rep. 2002;2:253–258.
  2. Maruyama Y, Sameshima H, Kamitomo M, et al. Fetal manifestations and poor outcomes of congenital cytomegalovirus infections: possible candidates for intrauterine antiviral treatments. J Obstet Gynaecol. 2007;33(5):619–623.
  3. Singh L, Mishra S, Prasanna S, Cariappa MP. Seroprevalence of TORCH infections in antenatal and HIV positive patient populations. Med J Armed Forces India. 2015;71(2):135–138
  4. Montoya JG, Remington JS. Toxoplasma gondii. In: Mandel GL, Bennett JE, Dolin R, editors. Mandell, Douglas, and Bennetts’ Principles and Practice of Infectious Diseases. 5. Philadelphia: Churchill Livingstone. 2000; 2858–2888.
  5. Jones J, Lopez A, Wilson M. Congenital toxoplasmosis. Am Fam Physician. 2003;67:2131–2138.
  6. Prasoona KR, Srinadh B, Sunitha T, et al. Seroprevalence and Influence of Torch Infections in High Risk Pregnant Women: A Large Study from South India.J Obstet Gynaecol India. 2015;65(5): 301–309.
  7. Lee JY, Bowden DS. Rubella virus replication and links to teratogenicity. Clin Microbiol Rev. 2000;13:571–587.
  8. Fowler KB, Pass RF. Risk factors for congenital cytomegalovirus infection in the offspring of young women: exposure to young children and recent onset of sexual activity. Pediatrics. 2006;118:e286–e292.
  9. Al-Hareth Z, Monem F, Abdel Megiud N. Is low birth weight a risk indicator for congenital cytomegalovirus infection? J. Infect Dev Ctries. 2010;4:044–047.
  10. O’Riordan DP, Golden WC, Aucott SW. Herpes simplex virus infections in preterm infants. Pediatrics. 2006;118(6):e1612–e1620.
  11. Brown ZA, Benedetti J, Ashley R, et al. Neonatal herpes simplex virus infection in relation to asymptomatic maternal infection at the time of labor. New Engl J Med. 1991;324(18):1247–1252.
  12. Brown ZA, Selke S, Zeh J, et al. The acquisition of herpes simplex virus during pregnancy. New Engl J Med. 1997;337(8):509–515.
  13. Biswas D, Borkakoty B, Mahanta J, et al. Seroprevalence and risk factors of herpes simplex virus type-2 infection among pregnant women in Northeast India. BMC Infect Dis. 2011;11:325.
  14. Miller E, Cradock-Watson JE, Pollock TM. Consequences of confirmed maternal rubella at successive stages of pregnancy. Lancet.1982; 2(8302):781-784.

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!
Last updated: 2019-07-11 22:03