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Washington University Experience | PERIPHERAL NEUROPATHY | 14 AMYLOID NEUROPATHY | 20A0 Case 20 History
Case 20 History (CANP Unknowns 2017, Case 10, Thanks to Drs. Chris Dunham and Julia Keith) ---- This patient is a 73 year old man who presented with 2 years of cold sensation in his feet which progressed to tingling, burning and pain in both feet and then hands. Over the last year abnormal sensations spread proximally to involve thighs and forearms, then developed weakness and difficulty walking. On neurologic examination he showed decreased muscle bulk and weakness of lower limbs, decreased pin-prick sensation and vibration from feet to upper thighs, hands to forearms, and areflexia. Nerve conduction studies showed severe length dependent motor and sensory deficits. Infectious, rheumatologic and paraneoplastic workup were all negative and he carried a working diagnosis of vasculitic neuropathy and was started on steroids. Subsequently a nerve biopsy was performed. The nerve biopsy was sent for GCMS analysis which showed TTR - genetic testing showed TTR:c.148G>A, p.(Val50Met), heterozygous carrier. On followup the patient had no cardiac symptoms but thickened LV wall on echo. His two adult sons started developing sensory symptoms in their feet.
