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.
Makioka
Kouki
K
Department of Neurology, Graduate School of Medicine, Gunma University, Maebashi, Gunma, Japan.
Ikeda
Masaki
M
Ikeda
Yoshio
Y
Nakasone
Ai
A
Osawa
Tenshi
T
Sasaki
Atsushi
A
Otani
Tomohiro
T
Arai
Masashi
M
Okamoto
Koichi
K
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