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
Unknown (e.g., in cytomegalovirus infection
approximately 1% of all newborns are infected but only 10% present
symptoms at birth).
TORCH Syndrome refers to infection of a developing
fetus or newborn by any of a group of infectious agents.
Association of small size, small brain, enlarged liver
and spleen, eye anomalies, jaundice, intracranial calcifications, and high
intracranial pressure. Blood screening is possible.
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.
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.
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.
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.
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.
Baraitser Brett Piesowicz Syndrome: Microcephaly,
intracranial calcification, and central nervous system disease; autosomal recessive with
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.
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