Clinical analysis of ten cases of acquired immunodeficiency syndrome-related progressive multifocal leukoencephalopathy diagnosed by second generation sequencing techniques with cerebrospinal fluid / 中华传染病杂志

ABSTRACT

Objective:To investigate the clinical manifestations, imaging findings, characteristics of cerebrospinal fluid, treatment and prognosis in patients with acquired immune deficiency syndrome (AIDS)-related progressive multifocal leukoencephalopathy (PML) diagnosed by second generation sequencing techniques with cerebrospinal fluid.Methods:From October, 2017 to January, 2019, ten patients with AIDS-related PML were diagnosed by second generation sequencing techniques with cerebrospinal fluid, and their clinical data were retrospectively reviewed. Descriptive analysis was used.Results:Among the ten patients with AIDS-related PML, eight were males and two were females. The age was (38.7±8.2) years. The median CD4 + T lymphocyte count was 46/μL. The median human immunodeficiency virus (HIV) RNA was 5.99×10 4copies/mL. The main clinical manifestations included dyskinesia in four patients, dizziness in three patients, cognitive decline in two patients, and speech disorder in one patient. Three patients developed convulsion throughout the course of the disease. Image findings indicated that lesions could appear in any part, including lesions located under the tentorium of cerebellum in three cases, and above the cerebellum in seven cases. Mild increase of total protein was observed in the cerebrospinal fluid of four cases, while white blood cell count ((0-10)×10 6/L), sugar and chloride were normal in all cases. The reads of JC virus sequence in the cerebrospinal fluid ranged from 3-12 531 reads (median 67 reads). All the patients received antiviral therapy containing integrase inhibitors. Among the 10 patients, two died in hospital and eight survived, and two of them had survived for more than one year. The symptoms were improved in five patients and unchanged in three patients. Conclusions:PML is less common in patients with HIV/AIDS. The second generation sequencing techniques with cerebrospinal fluid can help to diagnose the disease together with clinical manifestations, routine detection of cerebrospinal fluid and imaging. Potent antiretroviral treatment may improve the prognosis of the patients.