RT Journal Article
SR Electronic
T1 Familial amyloidosis of the Finnish type: clinical and neurophysiological features of two index cases
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e245764
DO 10.1136/bcr-2021-245764
VO 15
IS 11
A1 Inês Antunes Cunha
A1 Ana Brás
A1 Fátima Silva
A1 Anabela Matos
YR 2022
UL http://casereports.bmj.com/content/15/11/e245764.abstract
AB Familial amyloidosis of the Finnish type (FAF) is a rare multisystemic disorder caused by mutations in the gelsolin gene. The clinical presentation is typically characterised by a triad of ophthalmic, neurological and dermatological findings. FAF has been reported in several countries, primarily in Finland and recently in Portugal. We report the first genetically confirmed cases of FAF from two unrelated families in our neuromuscular outpatient clinic. Gelsolin gene sequencing revealed the heterozygous gelsolin mutation (c.640G>A). The clinical features and the neurophysiological studies of two index patients and their relatives are presented. Obtaining an early diagnosis can be challenging, but FAF should be considered in the differential diagnosis of progressive bilateral facial neuropathy, even if there is no known Finnish ancestor.