Familial amyloid polyneuropathy (Finnish type) presenting multiple cranial nerve deficits with carpal tunnel syndrome and orthostatic hypotension.
Familial amyloid polyneuropathy, Finnish type (FAF), is a dominantly inherited disorder caused by mutations in the gelsolin gene and rarely reported in several countries. We report a Japanese FAF patient with a missense mutation (G654A), presenting multiple cranial nerve symptoms, corneal lattice dystrophy, carpal tunnel syndrome and orthostatic hypotension. It is notable that this patient showed very wide range of cranial nerve involvement (III, IV, VI, VII, VIII, IX, X and XII), which have gradually deteriorated for 6 years. The patient also has carpal tunnel syndrome, which is not commonly found in FAF cases. Even if not for certain familial inheritance, it is preferable to take consideration of FAF as one of differential diagnoses of a case presenting multiple cranial nerves symptoms.
Department of Neurology, Graduate School of Medicine, Gunma University, Maebashi, Gunma, Japan.
Kouki
K
Makioka
Masaki
M
Ikeda
Yoshio
Y
Ikeda
Ai
A
Nakasone
Tenshi
T
Osawa
Atsushi
A
Sasaki
Tomohiro
T
Otani
Masashi
M
Arai
Koichi
K
Okamoto
D028227:Amyloid Neuropathies, Familial / Q000150:complications / Q000235:genetics / Q000473:pathology*; D002349:Carpal Tunnel Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology*; D003389:Cranial Nerve Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D018450:Disease Progression; D005190:Family; D005260:Female; D018260:Gelsolin / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007024:Hypotension, Orthostatic / Q000150:complications / Q000235:genetics / Q000473:pathology*; D007564:Japan; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree
D018260:Gelsolin