Teaching NeuroImages: Gelsolin-related amyloidosis A rare cause of progressive facial diparesis

From the Department of Neurology (I.K.), Emory University School of Medicine, Atlanta, GA
Neurology (Impact Factor: 8.29). 02/2013; 80(9):e94. DOI: 10.1212/WNL.0b013e318281cc5c
Source: PubMed


A 71-year-old diabetic man of German-Polish heritage, with no relevant family history, presented with 4 years of slowly progressive bilateral facial weakness. Clinical examination demonstrated bilateral, asymmetric facial paresis and skin laxity (figure 1). Screening ophthalmologic examination for diabetic complications revealed bilateral corneal lattice dystrophy (figure 2). EMG showed bilateral facial neuropathies, carpal tunnel syndrome, and mild axonal polyneuropathy. Genetic testing for gelsolin amyloidosis identified heterozygous status for Gelsolin-Asn187 (G654A mutation). Familial gelsolin-related amyloidosis of Finnish type, also known as Meretoja syndrome,(1) is a rare, autosomal dominant cause of progressive facial diparesis associated with cutis laxa and corneal lattice dystrophy.(2).

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