Cortical Blindness and Apraxia in a Liver Transplant Patient - Disentangling a Diagnostic Dilemma
Sushma Helagalli Paramashivaiah1, Rula Saeed1, Rebecca Frawley1, Saman Zafar1, Aparna Prabhu2, Gabriella Garcia1
1Neurology, Jefferson Einstein, 2Jefferson Einstein
Objective:
To report an atypical presentation of progressive multifocal leukoencephalopathy (PML) in a transplant patient.
Background:
PML is an opportunistic JC virus infection in immunocompromised individuals, leading to neurological deficits and often death. PML and Posterior-Reversible-Encephalopathy-Syndrome (PRES) can appear similar in imaging, causing potential misdiagnosis.
Design/Methods:
Not applicable.
Results:
A 56-year-old male with a history of liver transplant presented with progressive blindness and cognitive impairment over four months. MRI revealed patchy hyperintense T2/FLAIR signal within bilateral parieto-occipital subcortical white matter and posterior thalami. These features were suggestive of PRES, presumably secondary to Tacrolimus, which was subsequently discontinued.
The patient returned a month later with progressive symptoms. The neurological exam was consistent with confusion, cortical blindness, left motor apraxia and left hemineglect. Repeat MRI-brain showed significant interval increase in the supratentorial FLAIR hyperintense signal involving areas beyond those seen on the initial MRI, with wispy enhancement in the left parietal region.
PRES remained the leading diagnosis, although differentials included CNS immune reconstitution inflammatory syndrome, PML, post-transplant lymphoproliferative disorder, primary CNS lymphoma, and opportunistic infection. CSF was positive for JCV PCR. Brain biopsy with nuclear staining confirmed the diagnosis of PML.
The only treatment option was to suspend all immunosuppression. This led to acute liver transplant rejection. The patient rapidly declined and was discharged to hospice care.
Conclusions:
It remains challenging for clinicians to find the right balance of immunosuppressive medication that may prevent transplant rejection yet preserve enough host immunity to avoid complications such as PML. This case highlights the complexity of diagnosing neurological complications in solid organ transplant recipients. PRES and PML share overlapping clinical and radiological features, making the initial distinction challenging. MRI helps differentiate them, as PRES spares u-fibers, while PML affects them. Atypical presentations complicate diagnosis, making imaging alone insufficient for accurate identification [1,2,3]
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