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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: 8.3). 02/2013; 80(9):e94. DOI: 10.1212/WNL.0b013e318281cc5c
Source: PubMed

ABSTRACT 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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    ABSTRACT: Hereditary amyloidosis of the Finnish type (HAF, or familial amyloid polyneuropathy type IV) is an autosomal dominant disease that has been described most commonly in the Finnish population but has also been found in some other countries. Herein we report the first German family whose members suffer from this condition. There are no known Finnish ancestors. We performed clinical and electrophysiological examinations in 22 members of this family. All symptomatic family members suffered from facial palsy, and most of them had peripheral neuropathy. One patient had confirmed corneal lattice dystrophy. Additional symptoms were hypoglossal nerve involvement in 5 patients and oculomotor nerve palsy in 1 patient. The lips of all older patients appeared thickened. The causative G654A mutation in the gelsolin gene was found in all affected family members.
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