Abstract Details

Title Amyloid Myopathy as an initial manifestation of Primary AL associated amyloidosis: A Case Report and review of literature.

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P3 - Poster Session 3 (5:30 PM-6:30 PM)

Poster/Presentation
Number 12-017

Objective To describe an uncommon case of amyloid myopathy with predominant bulbar weakness as an initial presentation of Primary systemic amyloidosis.

Background Primary systemic amyloidosis (AL) is characterized by extracellular deposition of immunoglobulin light chains as amyloid fibrils resulting in organ dysfunction. The most common neurological manifestations are sensory or sensorimotor polyneuropathy, carpal tunnel syndrome, and autonomic involvement. Amyloid myopathy although well recognized, is an uncommon manifestation.

Design/Methods Case report and review of literature.

Results A 70-year-old male presented with complaints of gradually progressive generalized weakness with predominant proximal muscle involvement for 1 year, associated with difficulty in swallowing and change in the character of his voice for 6 months. Physical exam was significant for weak cough and gag reflex with decreased strength in muscles of the tongue and normal sensory exam. Laboratory workup was remarkable for normocytic normochromic anemia, elevated cardiac enzymes, high ESR with normal serum CK, lactic acid and pyruvate levels. 2D echocardiogram demonstrated findings consistent with restrictive cardiomyopathy. Urine studies were positive for elevated kappa free chain excretion with elevated kappa/lambda chain ratio on serum protein electrophoresis. Bone marrow biopsy showed CD 138+ plasma cells occupying > 80% of overall cellularity. EMG and nerve conduction studies demonstrated early irritable myopathy with normal motor and sensory conduction potentials. Deltoid muscle biopsy showed a perifascicular pattern of muscle atrophy with vascular amyloid deposition on Congo red staining. Immunoreactivity was noted for both kappa and lambda light chains on immunostaining. Patient was started on chemotherapy cycle with Cyclophosphamide, Bortezomib and Dexamethasone subsequently.

Conclusions Amyloid Myopathy as an initial manifestation of Primary AL associated amyloidosis is an uncommon presentation of the disease. A subset of patients may present with proximal muscle weakness with predominant bulbar muscle involvement and may precede the diagnosis of primary systemic amyloidosis by a long time.

Authors/Disclosures
Kunal Bhatia, MD (University of Mississippi Medical Center) PRESENTER	Dr. Bhatia has nothing to disclose.
Pradeep C. Bollu, MD	Dr. Bollu has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Abbvie.
Premkumar Nattanmai Chandrasekaran, MD (UMHS)	Dr. Nattanmai Chandrasekaran has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for UCB pharma.
	No disclosure on file

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