Noncompaction in a HIV-positive with cortical blindness as initial manifestation of progressive multifocal...

Though progressive multifocal leucencephalopathy (PML) may manifest with visual impairment, including bilateral visual loss as the presenting manifestation, in single patients, it has not been described in association with left ventricular hypertrabeculation/noncompaction (LVHT).

A 37 years old HIV-positive Caucasian male developed visual impairment, which continuously progressed to near blindness within two weeks. He could differentiate bright and dark but was unable to count fingers, and there was bradydiadochokinesia. Ophthalmologic investigations exclusively revealed severe visual field defects bilaterally. Visually-evoked-potentials were absent bilaterally. MRI of the cerebrum revealed bilateral occipital, non-enhancing T2-hyperintensities, which extended towards the temporal lobe. On diffusion weighted imaging hyperintense areas were intermingled with hypointense areas. H-MR-spectroscopy disclosed an increased lactate peak, but reduced creatine, cholin, and N-acetyl-aspartate peaks. CSF-protein was slightly elevated, oligoclonal bands were positive, and PCR positive for the JC-virus. T-helper cells were markedly reduced. Cardiologic investigations revealed right bundle-branch-block, left ventricular wall thickening and LVHT in the left ventricular apex and the lateral wall. During follow-up visual acuity transiently improved but lastly deteriorated again despite a highly-active anti-retroviral therapy.

This case shows that cortical blindness may be the initial clinical manifestation of PML and that isolated LVHT is not causally related to a HIV-infection but rather to a subclinical neuromuscular disorder.