Stručni rad
https://doi.org/10.3325/cmj.2017.58.310
Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases
Mirna Lechpammer
; Department of Pathology and Laboratory Medicine, University of California Davis, Medical School, Sacramento, CA, USA
Verónica Martínez Cerdeńo
; Department of Pathology and Laboratory Medicine, University of California Davis, Medical School, Sacramento, CA, USA
Michael R. Hunsaker
; Center for Integrative Neuroscience and Human Behavior, Department ofPsychology, University of Utah, Salt Lake City, UT, USA
Mina Hah
; Department of Psychiatry and Behavioral Sciences, University ofCalifornia Davis, Medical School,Sacramento, CA, USA
Hilary Gonzales
; Department of Pathology and Laboratory Medicine, University of California Davis, Medical School, Sacramento, CA, USA
Steve Tisch
; Department of Neurology, St Vincent’s Hospital, Darlinghurst, New South Wales, Australia
Ronald Joffe
; Department of Pathology, University of Sydney, School of Medical Sciences,Sydney, New South Wales, Australia
Flora Tassone
; MIND Institute, University of California Davis, Sacramento, CA, USA
Paul J. Hagerman
; Department of Biochemistry and Molecular Medicine, University ofCalifornia Davis, Medical SchoolSacramento, CA, USA
Samuel J. Bolitho
; Department of Neurology, St Vincent’s Hospital, Darlinghurst, New South Wales, Australia
Randi J. Hagerman
; Department of Pediatrics, University of California Davis, Medical School,Sacramento, CA, USA
Sažetak
This report describes unique presentations of inclusion
body myositis (IBM) in two unrelated patients, one male and
one female, with genetically and histologically confirmed
fragile X-associated tremor/ataxia syndrome (FXTAS). We
summarize overlapping symptoms between two disorders,
clinical course, and histopathological analyses of the two
patients with FXTAS and sporadic IBM, clinically defined per
diagnostic criteria of the European Neuromuscular Centre.
In case 1, a post-mortem analysis of available brain and
muscle tissues is also described. Histopathological features
(rimmed vacuoles) consistent with clinically defined IBM
were detected in both presented cases. Postmortem testing
in case 1 revealed the presence of an FMR1 premutation
allele of 60 CGG repeats in both brain and skeletal muscle
samples. Case 2 was a premutation carrier with 71 CGG repeats
who had a son with FXS. Given that FXTAS is associated
with immune-mediated disorders among premutation
carriers, it is likely that the pathogeneses of IBM and
FXTAS are linked. This is, to our knowledge, the first report of
these two conditions presenting together, which expands
our understanding of clinical symptoms and unusual presentations
in patients with FXTAS. Following detection of a
premutation allele of the FMR1 gene, FXTAS patients with
severe muscle pain should be assessed for IBM.
Ključne riječi
Hrčak ID:
195332
URI
Datum izdavanja:
10.8.2017.
Posjeta: 743 *