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

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-au...

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Autores principales: Prashantha, D. K., Taly, Arun B., Sinha, Sanjib, Yasha, T. Chikkabasavaiah, Gayathri, Narayanappa, Kovur, J. M. E., Vijayan, Joy
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2924515/
https://www.ncbi.nlm.nih.gov/pubmed/20814501
http://dx.doi.org/10.4103/0972-2327.64642
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author Prashantha, D. K.
Taly, Arun B.
Sinha, Sanjib
Yasha, T. Chikkabasavaiah
Gayathri, Narayanappa
Kovur, J. M. E.
Vijayan, Joy
author_facet Prashantha, D. K.
Taly, Arun B.
Sinha, Sanjib
Yasha, T. Chikkabasavaiah
Gayathri, Narayanappa
Kovur, J. M. E.
Vijayan, Joy
author_sort Prashantha, D. K.
collection PubMed
description 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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spelling pubmed-29245152010-09-02 Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: Phenotypic, pathological, and MRI description Prashantha, D. K. Taly, Arun B. Sinha, Sanjib Yasha, T. Chikkabasavaiah Gayathri, Narayanappa Kovur, J. M. E. Vijayan, Joy Ann Indian Acad Neurol Case Report 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. Medknow Publications 2010 /pmc/articles/PMC2924515/ /pubmed/20814501 http://dx.doi.org/10.4103/0972-2327.64642 Text en © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution license, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Prashantha, D. K.
Taly, Arun B.
Sinha, Sanjib
Yasha, T. Chikkabasavaiah
Gayathri, Narayanappa
Kovur, J. M. E.
Vijayan, Joy
Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: Phenotypic, pathological, and MRI description
title Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: Phenotypic, pathological, and MRI description
title_full Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: Phenotypic, pathological, and MRI description
title_fullStr Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: Phenotypic, pathological, and MRI description
title_full_unstemmed Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: Phenotypic, pathological, and MRI description
title_short Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: Phenotypic, pathological, and MRI description
title_sort familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: phenotypic, pathological, and mri description
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2924515/
https://www.ncbi.nlm.nih.gov/pubmed/20814501
http://dx.doi.org/10.4103/0972-2327.64642
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