Luca Leonardi1, Giuseppe Di Pietro2, Antonella Di Pasquale3, Fiammetta Vanoli3, Laura Fionda3, Matteo Garibaldi3, Eleonora Galosi2, Girolamo Alfieri3, Antonio Lauletta3, Stefania Morino3, Marco Salvetti3,4, Andrea Truini2, Giovanni Antonini3. 1. Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Sant'Andrea Hospital, 1035-39 Grottarossa St., Rome, Italy. luca.leonardi@uniroma1.it. 2. Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy. 3. Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Sant'Andrea Hospital, 1035-39 Grottarossa St., Rome, Italy. 4. Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Istituto Neurologico Mediterraneo (INM) Neuromed, 86077, Pozzilli, Italy.
Abstract
INTRODUCTION: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) remains a diagnostic challenge due to clinical, neurophysiological, and laboratory findings suggestive of other diagnoses, particularly chronic inflammatory demyelinating polyneuropathy (CIDP). In this cross-sectional prospective study, we aimed to investigate the utility of high-resolution ultrasonography of peripheral nerves as a diagnostic tool to differentiate ATTRv-PN from CIDP. METHODS: In 11 treatment-naive patients with genetically confirmed late-onset ATTRv-PN and 25 patients with CIDP, we collected clinical, electrodiagnostic, and high-resolution ultrasonography data of the peripheral nerves. In each patient, we used high-resolution ultrasonography to assess 26 nerve sites. RESULTS: Of the 11 patients with ATTRv-PN, two had electrodiagnostic study data compatible with a CIDP diagnosis. High-resolution ultrasonography showed that the cross-sectional area of the brachial plexus, median nerve at the axilla, arm, and forearm, ulnar nerve at the forearm, and peroneal nerve at the popliteal fossa were significantly smaller in the 11 ATTRv-PN patients than in CIDP patients. However, in the two patients with electrodiagnostic study data compatible with a CIDP diagnosis, high-resolution nerve ultrasonography data were comparable to those in patients with CIDP. CONCLUSION: Although high-resolution ultrasonography of peripheral nerves provides reliable information in patients with ATTRv-PN, its usefulness as a standalone diagnostic tool to differentiate ATTRv-PN from CIDP might be limited.
INTRODUCTION: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) remains a diagnostic challenge due to clinical, neurophysiological, and laboratory findings suggestive of other diagnoses, particularly chronic inflammatory demyelinating polyneuropathy (CIDP). In this cross-sectional prospective study, we aimed to investigate the utility of high-resolution ultrasonography of peripheral nerves as a diagnostic tool to differentiate ATTRv-PN from CIDP. METHODS: In 11 treatment-naive patients with genetically confirmed late-onset ATTRv-PN and 25 patients with CIDP, we collected clinical, electrodiagnostic, and high-resolution ultrasonography data of the peripheral nerves. In each patient, we used high-resolution ultrasonography to assess 26 nerve sites. RESULTS: Of the 11 patients with ATTRv-PN, two had electrodiagnostic study data compatible with a CIDP diagnosis. High-resolution ultrasonography showed that the cross-sectional area of the brachial plexus, median nerve at the axilla, arm, and forearm, ulnar nerve at the forearm, and peroneal nerve at the popliteal fossa were significantly smaller in the 11 ATTRv-PN patients than in CIDP patients. However, in the two patients with electrodiagnostic study data compatible with a CIDP diagnosis, high-resolution nerve ultrasonography data were comparable to those in patients with CIDP. CONCLUSION: Although high-resolution ultrasonography of peripheral nerves provides reliable information in patients with ATTRv-PN, its usefulness as a standalone diagnostic tool to differentiate ATTRv-PN from CIDP might be limited.
Authors: H Stephan Goedee; W Ludo van der Pol; Jan-Thies H van Asseldonk; Hessel Franssen; Nicolette C Notermans; Alexander J F E Vrancken; Michael A van Es; Stavros Nikolakopoulos; Leo H Visser; Leonard H van den Berg Journal: Neurology Date: 2016-12-07 Impact factor: 9.910
Authors: H Koike; K Misu; M Sugiura; M Iijima; K Mori; M Yamamoto; N Hattori; E Mukai; Y Ando; S Ikeda; G Sobue Journal: Neurology Date: 2004-07-13 Impact factor: 9.910