Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2010  |  Volume : 13  |  Issue : 2  |  Page : 142-144

Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: Phenotypic, pathological, and MRI description


1 Departments of Neurology, Neuroimaging and Interventional Radiology, NIMHANS, Bangalore, India
2 Department of Neuropathology, NIMHANS, Bangalore, India

Correspondence Address:
Arun B Taly
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Hosur Road, Bangalore - 560 029
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.64642

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Familial amyloidotic polyneuropathy (FAN type 1) is a rare systemic disease that causes severe and disabling peripheral neuropathy. We describe the phenotypic, radiological, and pathological characteristics of a patient with familial amyloid polyneuropathy type 1 who had evidence of motor-sensory-autonomic neuropathy, ocular vitreous deposits, diffuse leptomeningeal involvement, and hypertrophic cardiomyopathy. Muscle involvement, an infrequently reported feature, was also observed. Early recognition of the disease has significant therapeutic implications.


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