Abstract Details

Title Transthyretin-Related Amyloidosis Presenting with Camptocormia

Topic Muscle Disease/Neuromuscular Junction

Presentation(s) P01 - (-)

Poster/Presentation
Number 116

Objective

Background BACKGROUND: Myopathy is rather a rare manifestation of amyloidosis. Only two previous cases of amyloid myopathy with camptocormia (bent spine syndrome) have been reported, both in association with light chain amyloidosis (AL). Although TTR may play a role in the pathogenesis of AD, the concurrence of TTR amyloidosis and AD has not been reported.

Design/Methods DESIGN/METHODS: A 79 year old man presented with a transient ischemic attack. Family history was significant for Alzheimer's disease and heart disease in a brother. An echocardiogram showed an ejection fraction of 28% and cardiac MRI demonstrated severe bi-ventricular and bi-atrial dilatation with late myocardial enhancement. Several months later he developed progressive gait deterioration and muscle atrophy. Examination showed severe atrophy and weakness of peri-scapular and paraspinal as well as proximal limb muscles, as well as camptocormia. Reflexes and sensory exam were normal. Creatine kinase was 105 U/L. EMG showed a myopathy. Four months later, the patient had a large left middle cerebral artery stroke and died of cardiac arrest.

Results RESULTS: Autopsy revealed deposition of amyloid in the heart, bowel wall, skeletal muscle of the diaphragm, and blood vessels of heart, lung, kidneys, adrenal gland, thyroid gland and pancreas. There was also abnormal variation of myofiber size and endomysial amyloid deposition in the diaphragm. Typical pathological findings of Alzheimer's dsiease was detected in the brain. Laser microdissection and spectroscopy of the amyloid materaial from the heart confirmed the diagnosis of ATTR.

Conclusions CONCLUSIONS: Our case is the first report of ATTR myopathy causing camptocormia. He did not have neuropathy or dysautonomia, which have been present in previously reported cases of ATTR myopathy. Our case also had concomitant Alzheimer's disease the relation of which to the underlying ATTR is unknown.

Authors/Disclosures
Laurel J. Cherian, MD, FAAN (Rush University Medical Center) PRESENTER	The institution of Dr. Cherian has received research support from NIH.
Filippo Martinelli Boneschi	No disclosure on file
	No disclosure on file
Kourosh Rezania, MD, FAAN (University of Chicago)	Dr. Rezania has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Akcea. Dr. Rezania has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Alnylam.

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