Objective: To propose a novel etiology for cortical pencil lining

Background: Cortical pencil lining refers to the presence of linear hypointense tracings within the cortical motor area, discernible on susceptibility-weighted imaging (SWI). This finding has been linked to neuroferritionopathy, a subtype of neurodegeneration with brain iron accumulation (NBIA), but recent evidence suggests its specificity may be lacking, as it was found also in healthy controls. Its pathogenic and diagnostic value in patients with extrapyramidal signs remains elusive.

Method: Case Report

Results: 87-year-old female patient with undifferentiated connective tissue disease on hydroxychloroquine therapy and recent iron deficiency anemia requiring blood transfusion and intravenous iron supplementation one month prior. Family history reveals a sibling with parkinsonism. The patient presented to the emergency department exhibiting symptoms of somnolence and gait instability with subacute onset. Neurological exam unveiled a somnolent patient, although easily awakable; fragmented pursuit ocular movements, slow saccades and limited vertical saccadic movements; appendicular ataxia and wide-based gait and generalized choreo-dystonia, primarily affecting the lower extremities. The investigation yielded a novel diagnosis of type 2 diabetes mellitus, alongside hepatic dysfunction marked by hyperammonaemia, elevated levels of bilirrubin and mild transaminase activity, with negative serologies for hepatic viruses; abdominal CT imaging confirmed the presence of hepatic cirrhosis. Cooper and ceruloplasmin levels were within normal limits, while ferritin levels were elevated, possibly attributable to recent iron supplementation. The remainder of the immunologic investigation was unremarkable. MRI SWI findings demonstrated cortical pencil lining, with iron deposition in the cortical and basal ganglia, notably pronounced in the putamen. Despite the improbability of neuroferritinopathy given the patient’s age, lack of family history of autosomal dominance, and the elevated ferritin levels, results from the NBIAs NGS panel are currently pending.

Conclusion: We emphasize that, in accordance with recent literature, cortical pencil lining sign may be observed not only in NBIAs. Additionally, we propose the likely etiology of chronic hepatic disease, which can result in iron deposition due to its impact on iron clearance efficiency.

References: Batla A, Adams ME, Erro R, Ganos C, Balint B, Mencacci NE, Bhatia KP. Cortical pencil lining in neuroferritinopathy: a diagnostic clue. Neurology. 2015 Apr 28;84(17):1816-8. doi: 10.1212/WNL.0000000000001511. Epub 2015 Apr 1. PMID: 25832658; PMCID: PMC4424124.
van der Weijden MCM, van Laar PJ, Lambrechts RA, Verbeek DS, Tijssen MAJ. Cortical pencil lining on SWI MRI in NBIA and healthy aging. BMC Neurol. 2019 Oct 14;19(1):233. doi: 10.1186/s12883-019-1471-7. PMID: 31607263; PMCID: PMC6790995.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cortical-pencil-lining-in-brain-mri-of-a-patient-with-chorea-and-hepatic-cirrhosis/