Document Type : Case Report(s)
Authors
1 Department of Physical Medicine and Rehabilitation, Iran University of Medical Sciences, Tehran, Iran
2 Physical Medicine and Rehabilitation Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
Abstract
Familial amyloid polyneuropathy (FAP) type IV (FINNISH) is a rare clinical entity with challenging neuropathy and cosmetic deficits. Amyloidosis can affect peripheral sensory, motor, or autonomic nerves. Nerve lesions are induced by deposits of amyloid fibrils and treatment approaches for neuropathy are challenging. Involvement of cranial nerves and atrophy in facial muscles is a real concern in daily life of such patients. Currently, diagnosis of neuropathy can be made by electrodiagnostic studies and diagnosis of amyloidosis can be made by genetic testing or by detection of amyloid deposition in abdominal fat pad, rectal, or nerve biopsies. It is preferable to consider FAP as one of the differential diagnosis of a case presented with multiple cranial nerves symptoms. The authors present a case of familial amyloid polyneuropathy (FAP) type IV with severe involvement of multiple cranial nerves, peripheral limb neuropathy, and orthostatic hypotension.
Keywords
- Ikeda M, Mizushima K, Fujita Y, Watanabe M, Sasaki A, Makioka K, et al. Familial amyloid polyneuropathy (Finnish type) in a Japanese family: Clinical features and immunocytochemical studies. J Neurol Sci. 2007;252:4-8. doi: 10.1016/j.jns.2006.09.022. PubMed PMID: 17097682.
- Dumitru D,Amato AA,Zwarts MJ. Electrodiagnostic medicine.2nded. Philadelphia: Hanley &Belfus; 2002.
- Kiuru-Enari S, Haltia M. Hereditary gelsolin amyloidosis. HandbClin Neurol. 2013;115:659-81. doi: 10.1016/B978-0-444-52902-2.00039-4. PubMed PMID: 23931809.
- Luttmann RJ, Teismann I, Husstedt IW, Ringelstein EB, Kuhlenbaumer G. Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation. Muscle Nerve. 2010;41:679-84. doi: 10.1002/mus.21534. PubMed PMID: 20229579.
- Said G. Familial amyloid polyneuropathy: mechanisms leading to nerve degeneration. Amyloid. 2003;10:7-12. doi: 10.1016/j.jns.2009.05.001.PubMed PMID: 14640035.
- Ueda M, Ando Y. Recent advances in transthyretin amyloidosis therapy. TranslNeurodegener. 2014;3:19. doi: 10.1186/2047-9158-3-19. PubMed PMID: 25228988; PubMed Central PMCID: PMC4165622.
- Kiuru-Enari S, Keski-Oja J, Haltia M. Cutis laxa in hereditary gelsolin amyloidosis. Br J Dermatol. 2005;152:250-7. doi: 10.1111/j.1365-2133.2004.06276.x. PubMed PMID: 15727635.
)