RESUMEN
Objectives: The objective of this case report was to describe the first report of FOLR1 variants associated with adult-onset paucisymptomatic leukoencephalopathy associated with cerebral folate deficiency (CFD). Methods: Considering the patient's symptoms, a nonprogressive leukoencephalopathy was suspected. CSF 5-methyltetrahydrofolate levels were low (10 nmol/L, normal range 41-117). With no other identifiable causes, a genetic analysis was conducted, revealing a compound heterozygous FOLR1 variation (c.45G>T and c. 493+2T>C). Results: A 47-year-old man with a history of drug and alcohol abuse was admitted to the hospital for double vision and postural instability. MRI of the brain was performed, which showed bilateral leukoencephalopathy. Diffusion tensor imaging revealed a diffuse reduction in fractional anisotropy, suggesting microstructural changes. MRI of the brain and overall clinical picture were stable on subsequent serial examinations. Discussion: Scientific evidence supports the deleterious effect of c.45G>T and c.493+2T>C variations on the folate receptor-α (FRα) protein structure and function. The weakness of the expression and function of FRα without elimination of its function caused by specific compound heterozygous variations may explain the atypical features observed in our patient. Although rare, CFD should be considered in paucisymptomatic adult patients with stable diffuse MRI white matter changes.
RESUMEN
Diffusion tensor imaging (DTI) is considered feasible for the nerve plexuses' imaging and quantitative evaluation but its value in the clinical practice is still virtually unexplored. We present the DTI profile of a case of acute varicella-zoster virus (VZV)-related brachial plexopathy. A 72-year-old woman presented with left upper-limb segmental paresis involving the spinal metamers C6-C7, preceded by a painful dermatomal vesicular eruption in C5-T1 dermatomes. Clinical and electrophysiological findings and magnetic resonance imaging indicated a plexus involvement. DTI analysis showed decreased fractional anisotropy (FA) and an increase of all the other diffusivity indexes, i.e., mean, axial, and radial diffusivity. The mechanisms underlying DTI parameter differences between healthy and pathologic brachial plexus sides could be related to microstructural fiber damage. Water diffusion is affected within the nerve roots by increasing the diffusion distance, leading to increased diffusion perpendicular to the largest eigenvalue and therefore to decreased FA values The role of DTI in clinical practice has not been defined yet. Additional quantitative and qualitative DTI information could improve the assessment and follow-up of brachial plexopathy.