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-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.
Prashantha
D K
DK
Departments of Neurology, Neuroimaging and Interventional Radiology, Bangalore, India.
Taly
Arun B
AB
Sinha
Sanjib
S
Yasha
T Chikkabasavaiah
TC
Gayathri
Narayanappa
N
Kovur
J M E
JM
Vijayan
Joy
J
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