Familial Amyloidotic Polyneuropathy with Leptomeningeal and Cardiac Involvement in a Patient with Gly73Glu Transthyretin Gene Mutation — Non-invasive Diagnostic Approach with Multimodality Imaging Findings: a Case Report

BCK Chow, SSM Lo, JCY Lee, JB Chiang, HF Chan, CB Ho, LT Szeto, KW Tang CASE REPORT Hong Kong J Radiol 2022 Sep;25(3):e19-23 https://doi.org/10.12809/hkjr2217296 Familial Amyloidotic Polyneuropathy with Leptomeningeal and Cardiac Involvement in a Patient with Gly73Glu Transthyretin Gene Mutation — Non-invasive Diagnostic Approach with Multimodality Imaging Findings: a Case Report BCK Chow1, SSM Lo2, JCY Lee1, JB Chiang1, HF Chan3, CB Ho3, LT Szeto4, KW Tang1 1 Department of Radiology and Imaging, Queen Elizabeth Hospital, Hong Kong 2 Scanning Department, St. Teresa's Hospital, Hong Kong 3 Department of Medicine, Queen Elizabeth Hospital, Hong Kong 4 Department of Nuclear Medicine, Queen Elizabeth Hospital, Hong Kong Correspondence: Dr BCK Chow, Department of Radiology and Imaging, Queen Elizabeth Hospital, Hong Kong. Unlike familial cerebral amyloid angiopathy, the sporadic form is characterised by progressive amyloid-β protein deposition on the walls of small- to medium-sized arteries, arterioles and capillaries in the cerebral and cerebellar cortices, with vessel wall thickening, endothelial dysfunction and a loss of compliance leading to fragile vessels. Recent study suggests that suspicious cardiac MRI findings with a grade 2 or 3 myocardial radiotracer uptake on bone scintigraphy in a patient with no monoclonal protein in serum or urine has specificity and positive predictive value of 100% in the diagnosis of TTR cardiac amyloidosis. [...]the finding of a constellation of unique neurological and cardiac findings in this patient utilising various imaging modalities enabled us to diagnose this uncommon multisystem disease whose initial clinical presentation is often non-specific. 1.