Dysequilibrium/ataxic diplegia with immunodeficiency

Article Abstract:

Recurrent infections in an infant after loss of passive immunity (immunity against infections that is acquired from the mother during fetal development) are usually the first sign of severe congenital immunodeficiency (lack of immune system function). However, infants who are deficient in purine nucleoside phosphorylase (PNP; an enzyme needed to make compounds essential for growth of immune cells) may develop a nonprogressive motor disorder before immunodeficiency appears. Early recognition of this state can provide an opportunity for treatment of the underlying problem before immune-related complications occur. A case of one-year-old girl with a delay in motor development is described to illustrate the nature of the disorder. The infant seemed bright and alert and had a normal birth weight. She rolled at nine months, when sitting supported was not upright and could not crawl or bear weight on legs. She appeared to be hypotonic (having poor muscle tone), but tests showed increased muscle tone and sharp reflexes. Hands were used crudely and brain scans were normal. She sat unsupported at 16 months and pulled to standing at 19 months. Balance remained poor and she walked with her hands held at 26 months and took unsteady steps at three years. She had clear speech and mental development was normal, but fine hand movements were ataxic (poorly coordinated). The child began to have severe recurrent urinary tract infections despite antibiotic therapy at 26 months. Reflux (back flow) of urine from the bladder was found. When admitted to the hospital at three years, she had a yeast infection in her mouth, swollen lymph nodes, and low blood levels of white blood cells. Poor development of white blood cells was found in a bone marrow samples. Further tests showed other immune system abnormalities, including absence of PNP; the parents had about 50 percent of normal PNP levels. Tests of the lymph nodes revealed malignant lymphoma (cancer of lymphatic tissue). As no bone marrow donor was available, only palliative treatment was given, and the child died 20 days later. The report suggests that children with unexplained poor equilibrium or ataxia and poor use of lower legs be checked for PNP deficiency. (Consumer Summary produced by Reliance Medical Information, Inc.)

Case studies, Physiological aspects, Immunodeficiency, Purine metabolism

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Human immunodeficiency virus: early steps in management

Article Abstract:

A case report of a 46-year-old African-American man with asymptomatic HIV disease explains treatment options and other services provided at an urban HIV clinic. Combination drug therapy is preferred over monotherapy, and the choice of drugs will depend on the patient's CD4 lymphocyte count. Clinic staff will provide patient education, psychological counseling, and assistance in finding a drug treatment program as well as housing and social services.

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Prophylaxis of opportunistic infections in HIV infection

Article Abstract:

Standards for the administration of primary or secondary prophylaxis in opportunistic infections as a result of the immunodeficiency caused by HIV infection are presented. These criteria include prophylaxis of pneumocystis, cryptococcal, toxoplasma gondii, cytomegalovirus, herpes virus, mycobacterial and bacterial infections. Aside from causing permanent damage, these HIV-related infections can accelerate the disease's progression.

Opportunistic infections

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