Familial amyloid polyneuropathy (Finnish type) presenting multiple cranial nerve deficits with carpal tunnel syndrome and orthostatic hypotension
Familial amyloid polyneuropathy (Finnish type) presenting multiple cranial nerve deficits with carpal tunnel syndrome and orthostatic hypotension
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DOI：
10.1179/174313209x409007
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发表时间：
2010-06-01
影响因子：
1.9
通讯作者：
Okamoto, Koichi
中科院分区：
文献类型：
--
作者：
Makioka, Kouki;Ikeda, Masaki;Okamoto, Koichi
家族性淀粉样蛋白多发性神经病，芬兰型（FAF），是一种显性遗传疾病，由凝胶蛋白基因突变引起，在一些国家很少报道。我们报告了一名日本FAF患者的错义突变（G654A），表现为多种颅神经症状，角膜晶格营养不良，腕管综合征和直立性低血压。值得注意的是，该患者表现出非常广泛的脑神经受累（III， IV， VI， VII， VIII， IX， X和XII），并在6年内逐渐恶化。患者还患有腕管综合征，这在FAF病例中并不常见。即使没有一定的家族遗传，对于出现多发性脑神经症状的病例，最好考虑FAF作为鉴别诊断之一。
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.