Finnish amyloid, a rare familial amyloidotic polyneuropathy has been reported in about 600 patients, 500 of whom live in Finland. This case-report is of a 58 year-old French woman with a 10 year history of lattice corneal dystrophy.
She presented with additional features in January 2004 including impaired swallowing, bilateral facial paralysis more severe in right superior territory and arthritis that had developed a few months earlier. Examination showed facial cutis laxa, an amyotrophic tongue and some fasciculations. EMG showed chronic denervation of the facial muscles. The limbs and sympathetic nervous system were uninvolved. Pathological examination revealed areas of perivascular amyloid deposits. Molecular biology confirmed the diagnosis of Finnish amyloidosis by demonstrating substitution of aspartic acid by tyrosine at codon 187 of the gelsoline gene on chromosome 9. This mutation has been previously found in Denmark and the Czech Republic. The reported patient was born in France of a Mother of French descent over several generations; her father was of Polish origin.
Finnish amyloidosis is a familial polyneuropathy associating lattice corneal dystrophy, cutis laxa, and chronic involvement of the cranial nerves. Two associated mutations are recognised. Life expectancy is not affected.
© 2006 Elsevier Masson SAS. Tous droits réservés.