Nerve ultrasonography findings as possible pitfall in differential diagnosis between hereditary transthyretin amyloidosi
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Nerve ultrasonography findings as possible pitfall in differential diagnosis between hereditary transthyretin amyloidosis with polyneuropathy and chronic inflammatory demyelinating polyneuropathy Luca Leonardi 1 & Fiammetta Vanoli 1 & Laura Fionda 1 & Simona Loreti 1 & Matteo Garibaldi 1 & Stefania Morino 1 & Marco Salvetti 1 & Domitilla Russo 2 & Beatrice Musumeci 2 & Giovanni Antonini 1 Received: 21 May 2020 / Accepted: 12 September 2020 # Fondazione Società Italiana di Neurologia 2020
Abstract Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare form of treatable severe progressive sensorymotor and autonomic polyneuropathy. Albeit usually axonal, late-onset ATTRv-PN can show clear demyelinating features at electrodiagnostic studies, sometimes fulfilling CIDP diagnostic criteria. High-resolution nerve ultrasonography (HRUS) is an emerging useful supportive tool in the diagnosis of CIDP. Herein, we present a late-onset ATTRv-PN patient in which both clinical-neurophysiological and HRUS features could have led to a CIDP misdiagnosis. Nerve alterations at HRUS and MRI have already been reported in ATTRv-PN, albeit not in ATTRv-PN patients with clinical and electrodiagnostic features of CIDP. Our case shows that ATTRv-PN could present the same morphological nerve alterations pattern of CIDP at ultrasonography, adding HRUS findings as a further source of misdiagnosis late-onset ATTRv-PN. Keywords Transthyretin familial amyloid polyneuropathy . Chronic inflammatory demyelinating polyneuropathy . High-resolution nerve ultrasonography . Nerve enlargement
Introduction Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare form of progressive sensory-motor and autonomic polyneuropathy [1]. Albeit usually axonal, late-onset ATTRv-PN can show clear demyelinating features at electrodiagnostic studies, sometimes fulfilling the 2010 European Federation of Neurological Society/Peripheral Nerve Society (EFNS/PNS) criteria [2] for chronic inflammatory demyelinating polyneuropathy (CIDP) [3]. Highresolution nerve ultrasonography (HRUS) is an emerging useful supportive tool in the diagnosis of CIDP, recently claimed
* Luca Leonardi [email protected] 1
Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant’Andrea Hospital, Sapienza University of Rome, Rome, Italy
2
Division of Cardiology, Department of Clinical and Molecular Medicine, St. Andrea Hospital, Sapienza University, Rome, Italy
as highly sensible and specific in a large cohort of patients [4]. Herein, we present a late-onset ATTRv-PN patient in which both clinical-neurophysiological and HRUS features could have led to a CIDP misdiagnosis.
Case description A 76-year-old man (height 1.78 m, weight 85 kg) presented with an 8 months history of progressive paraesthesia with stocks-and-gloves distribution, followed by gait and balance impairment, difficulties in climbing stairs, rising from chairs and, ultimately, hands fine movements. Except for constipation, he did not comp
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