Developmental regression as the presenting feature of late-diagnosed vertically acquired HIV infection in a child: 18-month follow-up

Area of Science:

• Pediatric Neurology
• Infectious Diseases
• Neuroimmunology

Background:

• Vertically acquired HIV infection can present with neurological complications in children.
• HIV-associated encephalopathy (HAE) is a serious neurodevelopmental manifestation.
• Developmental regression and neurological deficits warrant thorough investigation for underlying causes like HIV.

Purpose of the Study:

• To describe an uncommon pediatric neurodevelopmental manifestation of vertically acquired HIV.
• To highlight the importance of considering HIV in unexplained developmental regression in children.
• To emphasize the role of early intervention and rehabilitation in managing HAE.

Main Methods:

• Case report of a mid-childhood boy with undiagnosed vertically acquired HIV.
• Clinical presentation included developmental regression, language impairment, gait disturbance, and pyramidal signs.
• Diagnostic workup involved assessment of immunosuppression, HIV RNA levels, and neuroimaging (MRI).

Main Results:

• The patient presented with profound immunosuppression and high HIV RNA levels in plasma and cerebrospinal fluid.
• Neuroimaging revealed diffuse white matter abnormalities and marked cerebral atrophy, consistent with HAE.
• Following prompt combination antiretroviral therapy and intensive rehabilitation, plasma HIV RNA became undetectable, immune function recovered, and significant neurological and functional improvements were observed over 18 months.

Conclusions:

• This case illustrates a rare pediatric neurodevelopmental presentation of HIV.
• Early diagnosis of HIV is critical in children presenting with unexplained neurological and developmental decline.
• Sustained multidisciplinary rehabilitation, alongside effective virological control, contributes significantly to neurological recovery in HAE.