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An acronymic syndrome referring to a group of fetal infectious malformations. It stands for: Toxoplasmis, Other agents, Rubella, Cytomegalovirus, and Herpex Simplex. Common signs involve essentially intracranial anomalies.

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Unknown (e.g., in cytomegalovirus infection approximately 1% of all newborns are infected but only 10% present symptoms at birth).

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TORCH Syndrome refers to infection of a developing fetus or newborn by any of a group of infectious agents.

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Association of small size, small brain, enlarged liver and spleen, eye anomalies, jaundice, intracranial calcifications, and high intracranial pressure. Blood screening is possible.

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May include fever, difficulties feeding, small areas of bleeding under the skin (causing the appearance of small reddish or purplish spots), hearing impairment, abnormalities of the eyes, seizures. Each infectious agent may also result in additional abnormalities.

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Evaluate neurological function (clinical, CT, MRI, EEG) and liver function (clinical, echography). Laboratory investigation should include bilirubin, serum glutamicoxaloacetic transaminase (SGOT), serum glutamic-pyruvic transaminase (SGPT), coagulation test, hematocrit, and platelet count.

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Vascular access can be difficult in cases of edema. Because the patient may be more prone to bleeding problems, if a major surgery is planned, be sure to have the required blood products in the operating room.

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Avoid succinylcholine and ketamine because they can increase intracranial pressure. Consider interaction between anesthetic drugs and antiepileptic medications. If bilirubin level is very high, it can displace other drugs from albumin, thereby increasing the free fraction and clinical effect of drugs such as muscle relaxants.

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Pseudo-TORCH Syndrome (Intrauterine Infection-Like Syndrome with Microcephaly, Intracranial Calcification, and Central Nervous System Disease; Pseudotoxoplasmosis Syndrome, Microcephaly with Calcification of Cerebral White Matter Syndrome): Characterized by microcephaly, quadriplegia, seizures, developmental delay, marked microphthalmia, congenital cataracts, cerebral and cerebellar hypoplasia, and intracranial calcification. No evidence of intrauterine infection was found. Previous reports of features resembling intrauterine infection and associated with an autosomal recessive inheritance have been reported.

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Baraitser Brett Piesowicz Syndrome: Microcephaly, intracranial calcification, and central nervous system disease; autosomal recessive with spasticity.

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Congenital Varicella Syndrome: A rare congenital nongenetic disorder because of maternal transmission of varicella in the first and second trimesters of pregnancy manifesting with cutaneous, neurological, and limb involvement.

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Aicardi-Goutieres Syndrome (Encephalopathy, Familial Infantile, with Calcification of Basal Ganglia and Chronic Cerebrospinal Fluid Lymphocytosis, AGS-1): Characterized by progressive familial encephalopathy in infancy, calcification of the basal ganglia and chronic cerebrospinal fluid (CSF) lymphocytosis, evolving rapidly to a vegetative state and early death in infancy. It has been suggested that it is a distinct type of leukodystrophy transmitted as autosomal recessive.

Jones CA: Congenital cytomegalovirus infection. Curr Probl Pediatr Adolesc Health Care 33(3):70, 2003.
Slee J, Lam G, Walpole I: Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification. Am J Med Genet 84:330, 1999.  [PubMed: 10340646]

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