Year: 2024
Type: article
Study design: Case Report
Abstract: ObjectiveTo highlight the radiographic features of infratentorial PML in a patient with Short Telomere Syndrome (STS), a rare genetic condition that predisposes to opportunistic infections. BackgroundJCV infection typically causes progressive multifocal leukoencephalopathy (PML) due to viral tropism for glial cells and subsequent damage to white matter. While usually supratentorial, PML can be isolated to the infratentorium or in rare cases, cause selective pontocerebellar damage in a condition known as granule cell neuronopathy (GCN). While these phenotypes are commonly seen in those with HIV-AIDS and iatrogenic immunosuppression, genetic immunodeficiency remains an important consideration. Accordingly, we highlight a case of Short Telomere Syndrome causing infratentorial PML. ResultsA 37-year-old male presented with 3 weeks of left-hand tremors, vertigo, dysarthria, and gait imbalance. History was significant for aplastic anemia, bilateral avascular necrosis and STS. Examination revealed cachexia, bitemporal wasting, graying hair and diffuse macular hypopigmentation. He had mild dysarthria, horizontal and vertical nystagmus, left-sided dysmetria and ataxic gait. Lab work was significant for pancytopenia, a CD4 count of 224 (47.3%), CD8 of 186 (39.4%) and a CD4:CD8 ratio of 1.2. CSF was positive for JCV. MRI brain with contrast showed non-enhancing FLAIR signal in the lateral pons, middle cerebellar peduncles and white matter of the cerebellum, sparing the dentate nucleus – pathognomonic for the “shrimp sign” seen with JCV infection. ConclusionsShort telomere syndrome presents with widespread symptoms, including immunodeficiency, aplastic anemia, skin hypopigmentation, premature graying and avascular necrosis, all of which were present in our patient. The association between this clinical syndrome and JCV stems from the ability of short telomeres to reduce the absolute quantity and function of T-cell subpopulations. In our patient, this T-cell dysfunction resulted in a case of infratentorial PML, which presented with the pathognomonic “shrimp sign” on MRI.
Source: Neurology
Authors: Max Herman, Zachary Lazzari, Emily Eichenberger, Irene Cortese, Spencer Hutto
Institution: American Academy of Neurology
Language: English
Subfield: Oncology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4403206792