[Familial amyloidosis of the Finnish type (FAP) with extraocular muscle involvement].

Among 17 patients with amyloid polyneuropathy type IV in a Japanese family, we found a 72-year-old woman, who showed extraocular symptoms approximately 10 years after the onset of the disease. she developed weakness of the right facial muscles and dysarthria at age 57. She had atrophy and disturbance of movement of the tongue, along with difficulty in swallowing at age 62. At the age of 66, she felt diplopia when she looked toward the left, followed by difficulty of ocular movement. These manifestations progressed and at age 72, she was found to have mild ptopsis, mild to moderate disturbance of almost all extraocular muscles, moderate to severe disturbance of facial, masseter, pharyngeal, tongue and neck muscles. She also had slight weakness and atrophy of the limb and truncal muscles together with slight loss of pain and vibratory sensations in the distal parts of the limbs. FAP IV has sometimes been called cranial amyloidosis, but motor disturbance is limited to the middle and lower cranial nerve territories in the majority of the reported cases, and manifestations of the extraocular muscles are quite rare. According to the present investigation of the world literature, this is the second case of FAP IV with extraocular muscle involvement.