Background To investigate the clinical manifestations, imaging findings, characteristics of cerebrospinal fluid, treatment and prognosis in patients with AIDS-related progressive white matter lesions diagnosed by second-generation sequencing with cerebrospinal fluid.
Methods Patients with clinically suspected PML were diagnosed by second-generation sequencing with cerebrospinal fluid, and the clinical data of these patients were retrospectively reviewed.
Results Ten patients with AIDS-related PML were diagnosed, including eight males (80%). The average age was 38.7±8.2 years, and the median CD4+ T cell count was 46×106/L. The median HIV RNA was 5.99 × 104 copies/ml. Main clinical manifestations included: dyskinesia in 4 patients (40%) and dizziness in 3(30%), cognitive decline in 2(20%), and speech disorder in 1(10%). Three patients (30%) developed convulsions throughout the course of the disease. Image findings involved lesions cerebellum in 3 cases (30%), and lesions above the cerebellum in 7 cases (70%). Mild increase of total protein was observed in the cerebrospinal fluid of 4 cases (40%), while white blood cell count, sugar and chloride were normal in all of the cases. The copies of JCV sequence in the cerebrospinal fluid ranged from 3-12531 reads (median=67 reads). All the patients received antiviral therapy including integrase inhibitors. Among the 10 patients, 2 died in hospital and 8 survived, 2 of them have survived for more than 1 year. Symptoms were improved in 5 patients and unchanged in 3 patients.
Conclusions PML is common in patients with HIV/AIDS. It is reliable to diagnose the disease through clinical manifestations, routine detection of cerebrospinal fluid, imaging and cerebrospinal fluid NGS sequencing. Strong and effective antiretroviral treatment may improve the prognosis of patients.