Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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November 23, 2015
HIV Encephalopathy Due to Congenital HIV Infection
- Background:
- HIV encephalopathy due to congenital HIV infection. It is related to the direct action of the HIV virus in the central nervous system (CNS), causing neuronal dysfunction and impaired brain growth.
- Clinical Presentation:
- In childhood, the clinical presentation of CNS involvement by HIV is distinct from that in adults (in whom opportunistic infections are the most common presentation), as the CNS during childhood is more vulnerable to HIV. In addition, antiretroviral drugs penetrate poorly in the CNS. Therefore, HIV encephalopathy is one of the most common forms of CNS involvement.
- Symptoms may vary. Patients often present developmental delay, behavioral abnormalities, motor deficit, microcephaly, cognitive impairment, and epilepsy.
- HIV encephalopathy may be progressive (slowing or arrest of neurological acquisitions, sometimes with lost of previously acquired milestones) or static (acquisition of developmental milestones slower than normal).
- Key Diagnostic Features:
- Basal ganglia calcifications are often seen in children with congenital HIV infection and HIV encephalopathy. However, this pattern of calcifications is not seen when the virus is acquired later in life.
- Differential Diagnosis:
- Autosomal dominant basal ganglia calcification
- Congenital toxoplasmosis
- Hyperparathyroidism
- Aicardi-Goutieres syndrome
- Diffuse cerebral microangiopathy
- Carbonic anhydrase II deficiency
- Acute lymphocytic leukemia
- Dehydropteridine reductase deficiency
- Other conditions
- Treatment:
- Antiretroviral therapy is the treatment of choice.