Mitchell S.V. Elkind,
Ioannis Karakis, MD
H. Royden Jones, MD
Ashish A. Gajjar, MD,
Dwayne B. Baharozian,
A rare cause of progressive facial diparesis
A 71-year-old diabetic man of German-Polish heritage,
with no relevant family history, presented with 4 years
of slowly progressive bilateral facial weakness. Clinical
examination demonstrated bilateral, asymmetric facial
paresis and skin laxity (figure 1). Screening ophthalmo-
logic examination for diabetic complications revealed
bilateral corneal lattice dystrophy (figure 2). EMG
showed bilateral facial neuropathies, carpal tunnel syn-
drome, and mild axonal polyneuropathy. Genetic test-
ing for gelsolin amyloidosis identified heterozygous
status for Gelsolin-Asn187 (G654A mutation). Familial
gelsolin-related amyloidosis of Finnish type, also known
as Meretoja syndrome,1is a rare, autosomal dominant
cause of progressive facial diparesis associated with cutis
laxa and corneal lattice dystrophy.2
I. Karakis and H.R. Jones: drafting/revising the manuscript, study con-
cept or design, analysis or interpretation of data, acquisition of data, study
supervision. A.A. Gajjar: drafting/revising the manuscript, contribution
of vital reagents/tools/patients, acquisition of data. D.B. Baharozian:
drafting/revising the manuscript, contribution of vital reagents/tools/
patients. J. Srinivasan: drafting/revising the manuscript, study concept
or design, analysis or interpretation of data.
No targeted funding reported.
The authors report no disclosures relevant to the manuscript. Go to
Neurology.org for full disclosures.
1.Meretoja J. Familial systemic paramyloidosis with lattice
dystrophy of the cornea, progressive cranial neuropathy,
skin changes and various internal symptoms: a previously
unrecognized heritable syndrome. Ann Clin Res 1969;1:
2.Lüttmann RJ, Teismann I, Husstedt IW, Ringelstein EB,
Kuhlenbäumer G. Hereditary amyloidosis of the Finnish
type in a German family: clinical and electrophysiological
presentation. Muscle Nerve 2010;41:679–684.
Figure 1Prominent facial diparesis and cutis
laxa upon eye closure
Note the bilateral lagophthalmos and facial drooping with
marked dermatochalasis and superciliary madarosis.
Figure 2Corneal lattice dystrophy (arrow) on
slit-lamp examination of the right eye
due to the lace-like deposition of
amyloid within the cornea stroma
From the Department of Neurology (I.K.), Emory University School of Medicine, Atlanta, GA; Department of Neurology (H.R.J., A.A.G., J.S.),
Lahey Clinic, Burlington, MA; and The Family Eye Care Center (D.B.B.), Westford, MA.
e94 © 2013 American Academy of Neurology
Ioannis Karakis, H. Royden Jones, Ashish A. Gajjar, et al.
: Gelsolin-related amyloidosis: A rare cause of progressive facial
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