Abstract Details

Title Transthyretin Receptor Amyloid Neuropathy Presenting as Chronic Immune-Mediated Demyelinating Polyneuropathy

Topic Peripheral Nerve

Presentation(s) P05 - (-)

Poster/Presentation
Number 071

Objective

Background BACKGROUND: The diagnosis of chronic immune-mediated demyelinating polyneuropathy (CIDP) is based on clinical history, examination, and electrodiagnostic criteria.

Design/Methods DESIGN/METHODS: Case report.

Results RESULTS: This is case report of a 41-year-old man of Irish descent, with 2-year history of progressive dysesthesias, sensory loss and symmetric weakness. Examination revealed areflexia of lower extremities, severe symmetric proximal and distal weakness in extremities. Electrodiagnostic studies revealed a severe demyelinating neuropathy, meeting criteria for diagnosis of CIDP. Serological evaluation revealed normal blood count and metabolic profile. Liver enzymes were mildly elevated. Cerebrospinal fluid (CSF) evaluation revealed no nucleated cells, normal glucose levels, and a modestly elevated CSF protein level at 65 mg/dl. A trial of high-dose steroids did not result in any improvement. Muscle and nerve biopsy revealed congophilic inclusions in both nerve and muscle tissue. Electron microscopic evaluation of the muscle and nerve tissue revealed the presence of 9 to11 nm amyloid fibrils. A diagnosis of amyloid polyneuropathy was made. Evaluation for the presence of paraproteins by immunofixation electrophoresis was negative. Primary amyloidosis was suspected, and confirmed by mutational analysis of the transthyretin receptor (TTR) gene which revealed a V71A (Val71Ala) substitution.

Conclusions CONCLUSIONS: To our knowledge, this is the first report of a patient from the American subcontinent with the V71A substitution in the TTR gene. The details of clinical presentation, progression, evaluation, differential diagnosis and diagnosis will be presented.

Authors/Disclosures
Bassam Malo, MD PRESENTER	No disclosure on file
Darine Kassar, MD	Dr. Kassar has nothing to disclose.
Ghazala Hayat, MBBS, FAAN (Saint Louis University)	Dr. Hayat has received personal compensation in the range of $500-$4,999 for serving as a Consultant for kabafusion. Dr. Hayat has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for csl. Dr. Hayat has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for alexion. Dr. Hayat has received personal compensation in the range of $50,000-$99,999 for serving on a Speakers Bureau for MTPA. Dr. Hayat has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for alexion. Dr. Hayat has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for kabafusion.
Stanley J. Iyadurai, MD, PhD, FAAN (Johns Hopkins All Children's Hospital/Catalyst)	Dr. Iyadurai has received personal compensation for serving as an employee of Catalyst Pharmaceuticals. Dr. Iyadurai has received stock or an ownership interest from Catalyst Pharmaceuticals.
	No disclosure on file

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