TORCH Syndrome

TORCH Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report TORCH Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Torch Infection
  • Toxoplasmosis, Other Agents, Rubella, Cytomegalovirus, Herpes Simplex
  • Toxoplasmosis
  • Rubella
  • Cytomegalovirus
  • Herpes Simplex

Disorder Subdivisions

  • None

General Discussion

TORCH Syndrome refers to infection of a developing fetus or newborn by any of a group of infectious agents. "TORCH" is an acronym meaning (T)oxoplasmosis, (O)ther Agents, (R)ubella (also known as German Measles), (C)ytomegalovirus, and (H)erpes Simplex. Infection with any of these agents (i.e., Toxoplasma gondii, rubella virus, cytomegalovirus, herpes simplex viruses) may cause a constellation of similar symptoms in affected newborns. 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 the eyes, and mucous membranes (jaundice); hearing impairment; abnormalities of the eyes; and/or other symptoms and findings. Each infectious agent may also result in additional abnormalities that may be variable, depending upon a number of factors (e.g., stage of fetal development).

Symptoms

TORCH Syndrome refers to any of a group of infections in newborns due to one of the TORCH infectious agents having crossed the placenta during pregnancy. The acronym TORCH refers to (T)oxoplasmosis, (O)ther Agents, (R)ubella (or German Measles), (C)ytomegalovirus, and (H)erpes Simplex.



If a developing fetus is infected by a TORCH agent, the outcome of the pregnancy may be miscarriage, stillbirth, delayed fetal growth and maturation (intrauterine growth retardation), or early delivery. In addition, newborns infected by any one of the TORCH agents may develop a spectrum of similar symptoms and findings. 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). In 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); inflammation of the middle and innermost layers of the eyes (chorioretinitis); and/or other symptoms and findings. Each infectious agent may also cause additional abnormalities that may vary in degree and severity, depending upon the stage of fetal development at time of infection and/or other factors. Following is a more specific description of the TORCH agents.



Toxoplasmosis is an infectious disease caused by the microscopic parasitic organism called Toxoplasma gondii. This parasitic infection, found worldwide, may be acquired or transmitted to the developing fetus from an infected mother during pregnancy. In some severely affected newborns, Toxoplasmosis may be associated with abnormal smallness of the head (microcephaly), inflammation of the middle and innermost layers of the eyes (chorioretinitis), calcium deposits in the brain (intracranial calcifications), and/or other abnormalities. (For more information on this disorder, choose "Toxoplasmosis" as your search term in the Rare Disease Database.)



Rubella is a viral infection characterized by fever, upper respiratory infection, swelling of the lymph nodes, skin rash, and joint pain. Severely affected newborns and infants may have visual and/or hearing impairment, heart defects, calcium deposits in the brain, and/or other abnormalities. (For more information on this disorder, choose "Rubella" as your search term in the Rare Disease Database.)



Cytomegalovirus (CMV) Infection is a viral infection that may occur during pregnancy, after birth, or at any age. In severely affected newborns, associated symptoms and findings may include growth retardation, an abnormally small head (microcephaly), enlargement of the liver and spleen (hepatosplenomegaly), inflammation of the liver (hepatitis), low levels of the oxygen-carrying pigment in the blood due to premature destruction of red blood cells (hemolytic anemia), calcium deposits in the brain, and/or other abnormalities. (For more information on this disorder, choose "Cytomegalovirus" as your search term in the Rare Disease Database.)



Neonatal Herpes is a rare disorder affecting newborns infected with the Herpes simplex virus (HSV). This disorder may vary from mild to severe. In most cases, the disorder is transmitted to an infant from an infected mother with active genital lesions at the time of delivery. In the event that a mother has a severe primary genital outbreak, it is possible that a mother may transmit the infection to the fetus. After delivery, direct contact with either genital or oral herpes sores may result in neonatal herpes. Severely affected newborns may develop fluid-filled blisters on the skin (cutaneous vesicles), lesions in the mouth area, inflammation of the mucous membrane lining the eyelids and whites of the eyes (conjunctivitis), abnormally diminished muscle tone, inflammation of the liver (hepatitis), difficulties breathing, and/or other symptoms and findings. (For more information on this disorder, choose "Neonatal Herpes" as your search term in the Rare Disease Database.)

Causes

TORCH Syndrome results from one of the TORCH agents having crossed the placenta during pregnancy. These infectious agents include Toxoplasma gondii, the single-celled microorganism (protozoa) responsible for Toxoplasmosis; rubella virus; cytomegalovirus; and herpes simplex viruses. (Note: According to some reports, the acronym "TORCH" is sometimes modified to the term "STORCH" to include syphilis, a disease that may result in symptoms similar to those associated with the other TORCH agents. Syphilis is caused by infection with the bacterium Treponema pallidum. In addition, TORCH may encompass other disease-causing agents, such as varicella-zoster virus, which is the virus responsible for chickenpox, and parvovirus.)

Affected Populations

TORCH syndrome may affect a developing fetus or newborn, potentially resulting in miscarriage, delayed fetal growth and maturation (intrauterine growth retardation), or early delivery.

Standard Therapies

Treatment of newborns and infants with TORCH Syndrome is based upon the specific causative agent, the stage of fetal development when infection initially occurred, the severity of the infection and associated symptoms and findings, and/or other factors. For infants with toxoplasmosis, treatment may include administration of the medication pyrimethamine with sulfadiazine. Herpes simplex may be treated with the antiviral agent acyclovir. The treatment of newborns and infants with rubella or cytomegalovirus primarily includes symptomatic and supportive measures.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Nelson Textbook of Pediatrics, 15th Ed.: Richard E. Behrman, Editor; W.B. Saunders Company, 1996. Pp. 518, 521.



JOURNAL ARTICLES

The Torch Syndrome, A Clinical Review. J. D. Fine et al.; J Amer Acad Dermatol (April 1985; 12(4)). Pp. 2477-78.



Torch, A Literature Review and Implications for Practice. L. Haggerty; J Obstet Gynecol Nurs (March-April 1985; 14(2)). Pp. 124-29.



Timely Diagnosis of Congenital Infections. J.K. Stamos et al.; Pediatr Clin North Am (Oct 1994; 41(5)). Pp. 1017-33.



Torch Syndrome. R.E. Epps et al.; Semin Dermatol (Jun 1995; 14(2)). Pp. 179-86.



Torch Congenital Infections. E. Domenech et al.; An Esp Pediatr (Jun 1997; Spec No 1). Pp. 58-62.



Serologic and DNA-Based Testing for Congenital and Perinatal Infections. C.M. Litwin et al.; Pediatr Infect Dis J (Dec 1997; 16(12)). Pp. 1166-75.



Current Use of the Torch Screen in the Diagnosis of Congenital Infection. A. Cullen et al.; J Infect (Mar 1998; 36(2)). Pp. 185-88.



Torch Syndrome. Y. Hidaka et al.; Ryoikibetsu Shokogun Shirizu (1999; 25(Pt 3)). Pp. 85-88.



FROM THE INTERNET

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For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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