AIDS dysmorphic syndrome
Synonyms
7
Overview
It is a rare syndrome involving craniofacial anomalies and developmental delay that occurs in infants infected with AIDS during the fetal stage. Such craniofacial abnormalities have included a prominent, boxlike forehead, large, wide eyes; a flattened nasal bridge, and an unusually pronounced philtrum, which is the vertical groove in the center of the upper lip.
Symptoms
- Small head circumference (microcephaly); a prominent, boxlike forehead; a flattened nasal bridge and shortened nose; and/or an unusually pronounced vertical groove (philtrum) in the center of the upper lip.
- Various eye abnormalities have also been reported, such as unusually prominent and/or widely set eyes (ocular hypertelorism); slanting (obliquity) of the eyes; long eyelid folds (palpebral fissures); and/or an unusual bluish tint of the whites of the eyes (blue sclerae).
- Affected infants and children also typically had growth retardation, resulting in low weight and height as compared to others of the same age and sex.
- In some cases, growth failure began during fetal development (intrauterine growth retardation). Such features have varied in range and severity from case to case and have been noted prior to the development of symptoms associated with impaired functioning of the immune system (immunodeficiency).
Causes
Most new cases of HIV infection in young children (pediatric HIV infection) are caused by transmission from the mother during pregnancy, labor and delivery, or breastfeeding (perinatal transmission).
Diagnosis
Perinatal HIV infection is considered in infants of mothers known to be HIV-positive and/or in infants and children who have certain characteristic symptoms of HIV infection or immune system abnormalities.
Infants who are born to mothers with HIV have antibodies against the virus in the bloodstream at birth (passively acquired maternal antibodies).
In infants and children who are not infected with HIV, these passive antibodies eventually disappear, usually between six to 12 months, however, in some cases, they may be detectable for up to 18 months.
Therefore, testing that detects the presence of HIV antibodies in the blood (serum antibody tests, e.g., enzyme immunoassay and confirmatory Western blot) in a child 18 months or older usually indicates infection; however, such testing is not conclusive in children younger than 18 months. In these children,
HIV infection may be confirmed through the repeated use of various specialized viral detection laboratory tests;
- HIV viral cultures
- DNA-amplification and copying method known as polymerase chain reaction [PCR]
Additional laboratory tests may also be conducted to assess immune functioning in order to assist in diagnosis and to monitor disease progression and its treatment. Testing may include monitoring of helper T cell numbers (CD4+ cells), the ratio of helper T cells to certain other white blood cells (CD8+ cells), complete blood counts, and blood platelet levels.
Treatment
Disease management and treatment may require the coordinated efforts of a team of medical professionals, including obstetricians, pediatricians, specialists in HIV infection, and additional health care professionals.
If pregnant women are infected with HIV, certain preventive measures may help to decrease the rate of transmission to their children. Such measures may include administration of the antiretroviral drug zidovudine (ZDV) by mouth (orally) during the second and third trimesters of pregnancy; intravenously during labor and delivery; and orally to the newborn during the first six weeks of life. Research has shown that, for selected HIV-infected pregnant women, this regimen may decrease the rate of perinatal HIV transmission by more than two-thirds. (ZDV is a nucleoside reverse transcriptase inhibitor.)