AIDS Dysmorphic Syndrome

AIDS dysmorphic syndrome, also known as HIV (human immunodeficiency virus) embryopathy, refers to facial malformations in infants believed to be caused by acquired perinatal (before, during, or after birth) HIV infection; however, researchers are not certain that perinatal infection with the HIV virus is actually the cause, as there may be other causes, such as alcohol or drug use.

Causes of AIDS Dysmorphic Syndrome

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).

Symptoms of AIDS Dysmorphic Syndrome

  • 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).

Diagnosis of AIDS Dysmorphic Syndrome

  • 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

Treatment of AIDS Dysmorphic Syndrome

  • Treatment for AIDS dysmorphic syndrome is individualized and is conducted by a multidisciplinary team, including a pediatric specialist in HIV infection.

  • The craniofacial abnormalities associated with AIDS dysmorphic syndrome may be treated symptomatically.

  • HIV infection in infants with AIDS dysmorphic syndrome may include the use of combined antiretroviral therapies, such as zidovudine (ZDV) with didanosine or lamivudine and a protease inhibitor.

  • Intravenous immunoglobulin, corticosteroids, and antibiotics may be administered to prevent opportunistic infections.

diseases treatments syndromes aids-dysmorphic-syndrome disorders health

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