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Miller NJ, Meiling JB, Cartwright MS, Walker FO. The Role of Neuromuscular Ultrasound in the Diagnosis of Peripheral Neuropathy. Semin Neurol 2025; 45:34-48. [PMID: 39433283 DOI: 10.1055/s-0044-1791577] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/23/2024]
Abstract
The classification of peripheral neuropathies has traditionally been based on etiology, electrodiagnostic findings, or histopathologic features. With the advent of modern imaging, they now can also be characterized based on their varied distribution of imaging findings. We describe the major morphologic patterns of these changes, which include homogeneous enlargement; homogeneous thinning; focal, multifocal, and segmental enlargement; and focal thinning and beading (multifocal thinning). Representative disorders in each of these categories are discussed, along with examples of the more complex imaging manifestations of neuralgic amyotrophy, nerve transection, and hereditary amyloidosis. An appreciation of the diverse morphologic manifestations of neuropathy can help neuromuscular clinicians conduct appropriate imaging studies with ultrasound and, when needed, order suitable investigations with magnetic resonance neurography.
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Affiliation(s)
- Nicholas J Miller
- Department of Internal Medicine, Max Rady College of Medicine, University of Manitoba, 800 Sherbrook Street, Winnipeg, Manitoba, Canada
| | - James B Meiling
- Department of Physical Medicine and Rehabilitation, Mayo Clinic, 200 First Street Southwest, Rochester, Minnesota
| | - Michael S Cartwright
- Department of Neurology, Wake Forest School of Medicine, Medical Center Boulevard, Winston-Salem, North Carolina
| | - Francis O Walker
- Department of Neurology, Wake Forest School of Medicine, Medical Center Boulevard, Winston-Salem, North Carolina
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Tan SY, Tan CY, Yahya MA, Low SC, Shahrizaila N, Goh KJ. Quantitative muscle ultrasound as a disease biomarker in hereditary transthyretin amyloidosis with polyneuropathy. Neurol Sci 2024; 45:3449-3459. [PMID: 38270729 DOI: 10.1007/s10072-024-07340-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/05/2023] [Accepted: 01/19/2024] [Indexed: 01/26/2024]
Abstract
INTRODUCTION There is an increasing need for a reproducible and sensitive outcome measure in patients with hereditary transthyretin amyloidosis (ATTRv) with polyneuropathy (PN) due to the emergence of disease modifying therapies. In the current study, we aimed to investigate the role of quantitative muscle ultrasound (QMUS) as a disease biomarker in ATTRv-PN. METHODS Twenty genetically confirmed ATTRv amyloidosis patients (nine symptomatic, 11 pre-symptomatic) were enrolled prospectively between January to March 2023. Muscle ultrasound was performed on six muscles at standardized locations. QMUS parameters included muscle thickness (MT) and muscle echo intensity (EI). Twenty-five age- and sex-matched healthy controls were recruited for comparison. Significant QMUS parameters were correlated with clinical outcome measures. RESULTS Muscle volume of first dorsal interosseus (FDI) muscle [measured as cross-sectional area (CSA)] was significantly lower in symptomatic patients compared to healthy controls and pre-symptomatic carriers (98.3 ± 58.0 vs. 184.4 ± 42.5 vs. 198.3 ± 56.8, p < 0.001). EI of biceps and FDI for symptomatic ATTRv-PN patients were significantly higher compared to the other two groups (biceps: 76.4 ± 10.8 vs. 63.2 ± 11.5 vs. 59.2 ± 9.0, p = 0.002; FDI: 48.2 ± 7.5 vs. 38.8 ± 7.5 vs. 33.0 ± 5.3, p < 0.001). CSA of FDI and EI of biceps and FDI correlated with previous validated outcome measures [polyneuropathy disability score, neuropathy impairment score, Karnofsky performance scale, Rasch-built overall disability scale, European quality of life (QoL)-5 dimensions and Norfolk QoL questionnaire-diabetic neuropathy]. CONCLUSION QMUS revealed significant difference between ATTRv amyloidosis patients and healthy controls and showed strong correlation with clinical outcome measures. QMUS serves as a sensitive and reliable biomarker of disease severity in ATTRv-PN.
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Affiliation(s)
- Siew Yin Tan
- Department of Medicine, Neurology Unit, University of Malaya, Kuala Lumpur, Malaysia
| | - Cheng Yin Tan
- Department of Medicine, Neurology Unit, University of Malaya, Kuala Lumpur, Malaysia.
- Department of Medicine, Faculty of Medicine, Universiti Malaya, Lembah Pantai, 50603, Kuala Lumpur, Malaysia.
| | - Mohd Azly Yahya
- Neurophysiology Laboratory, University of Malaya Medical Centre, Kuala Lumpur, Malaysia
| | - Soon Chai Low
- Department of Medicine, Neurology Unit, University of Malaya, Kuala Lumpur, Malaysia
| | - Nortina Shahrizaila
- Department of Medicine, Neurology Unit, University of Malaya, Kuala Lumpur, Malaysia
| | - Khean Jin Goh
- Department of Medicine, Neurology Unit, University of Malaya, Kuala Lumpur, Malaysia
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Nasr-Eldin YK, Cartwright MS, Hamed A, Ali LH, Abdel-Nasser AM. Neuromuscular Ultrasound in Polyneuropathies. JOURNAL OF ULTRASOUND IN MEDICINE : OFFICIAL JOURNAL OF THE AMERICAN INSTITUTE OF ULTRASOUND IN MEDICINE 2024; 43:1181-1198. [PMID: 38504399 DOI: 10.1002/jum.16447] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/29/2023] [Revised: 02/20/2024] [Accepted: 02/25/2024] [Indexed: 03/21/2024]
Abstract
Neuromuscular ultrasound is a painless, radiation-free, high-resolution imaging technique for assessing the peripheral nervous system. It can accurately depict changes in the nerves and muscles of individuals with neuromuscular conditions, and it is therefore a robust diagnostic tool for the assessment of individuals with polyneuropathies. This review will outline the typical ultrasonographic changes found in a wide variety of polyneuropathies. In general, demyelinating conditions result in greater nerve enlargement than axonal conditions, and acquired conditions result in more patchy nerve enlargement compared to diffuse nerve enlargement in hereditary conditions. This review is data-driven, but more nuanced anecdotal findings are also described. The overall goal of this paper is to provide clinicians with an accessible review of the ultrasonographic approaches and findings in a wide variety of polyneuropathies.
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Affiliation(s)
| | - Michael S Cartwright
- Neurology Department, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
| | - Ahmed Hamed
- Rheumatology and Rehabilitation Department, Minia University, Minia, Egypt
| | - Lamia Hamdy Ali
- Clinical Pathology Department, Minia University, Minia, Egypt
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Poli L, Labella B, Cotti Piccinelli S, Caria F, Risi B, Damioli S, Padovani A, Filosto M. Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy. Front Neurol 2023; 14:1242815. [PMID: 37869146 PMCID: PMC10585157 DOI: 10.3389/fneur.2023.1242815] [Citation(s) in RCA: 12] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/19/2023] [Accepted: 09/11/2023] [Indexed: 10/24/2023] Open
Abstract
Amyloidoses represent a group of diseases characterized by the pathological accumulation in the extracellular area of insoluble misfolded protein material called "amyloid". The damage to the tissue organization and the direct toxicity of the amyloidogenic substrates induce progressive dysfunctions in the organs involved. They are usually multisystem diseases involving several vital organs, such as the peripheral nerves, heart, kidneys, gastrointestinal tract, liver, skin, and eyes. Transthyretin amyloidosis (ATTR) is related to abnormalities of transthyretin (TTR), a protein that acts as a transporter of thyroxine and retinol and is produced predominantly in the liver. ATTR is classified as hereditary (ATTRv) and wild type (ATTRwt). ATTRv is a severe systemic disease of adults caused by mutations in the TTR gene and transmitted in an autosomal dominant manner with incomplete penetrance. Some pathogenic variants in TTR are preferentially associated with a neurological phenotype (progressive peripheral sensorimotor polyneuropathy); others are more frequently associated with restrictive heart failure. However, many mutations express a mixed phenotype with neurological and cardiological involvement. ATTRv is now a treatable disease. A timely and definite diagnosis is essential in view of the availability of effective therapies that have revolutionized the management of affected patients. The purpose of this review is to familiarize the clinician with the disease and with the correct diagnostic pathways in order to obtain an early diagnosis and, consequently, the possibility of an adequate treatment.
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Affiliation(s)
- Loris Poli
- Unit of Neurology, Azienda Socio-Sanitaria Territoriale Spedali Civili, Brescia, Italy
| | - Beatrice Labella
- Unit of Neurology, Azienda Socio-Sanitaria Territoriale Spedali Civili, Brescia, Italy
- Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
| | - Stefano Cotti Piccinelli
- Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
- NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy
| | - Filomena Caria
- NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy
| | - Barbara Risi
- NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy
| | - Simona Damioli
- NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy
| | - Alessandro Padovani
- Unit of Neurology, Azienda Socio-Sanitaria Territoriale Spedali Civili, Brescia, Italy
- Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
| | - Massimiliano Filosto
- Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
- NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy
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Leonardi L, Costanzo R, Forcina F, Morino S, Antonini G, Salvetti M, Luigetti M, Romano A, Primiano G, Guglielmino V, Fionda L, Garibaldi M, Lauletta A, Rossini E, Tufano L, Ceccanti M, Esposito N, Falco P, di Pietro G, Truini A, Galosi E. Quantitative sensory testing and skin biopsy findings in late-onset ATTRv presymptomatic carriers: Relationships with predicted time of disease onset (PADO). J Peripher Nerv Syst 2023; 28:390-397. [PMID: 37535421 DOI: 10.1111/jns.12586] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/14/2023] [Revised: 08/01/2023] [Accepted: 08/02/2023] [Indexed: 08/05/2023]
Abstract
INTRODUCTION Hereditary transthyretin amyloidosis polyneuropathy (ATTRv-PN) presymptomatic carriers often show preclinical abnormalities at small fiber-related diagnostic tests. However, no validated biomarker is currently available to use for presymptomatic carriers' follow-up, thus helping therapeutic decision making. Our study aimed at assessing nerve conduction study (NCS), quantitative sensory testing (QST), and skin biopsy parameters in a large cohort of late-onset ATTRv presymptomatic carriers and to evaluate whether they correlated with predicted age of disease onset (PADO). METHODS Late-onset ATTRv presymptomatic carriers were consecutively enrolled and underwent NCS, QST, and skin biopsy with intraepidermal nerve fiber density (IENFD) evaluation from a distal and a proximal site. Douleur Neuropathique-4 (DN4) and Small Fiber Neuropathy-Symptoms Inventory (SFN-SIQ) were used to assess painful and small fiber neuropathy-related symptoms. PADO and time-to-PADO (delta-PADO) were estimated for each carrier, and correlations with diagnostic test measures were analyzed. RESULTS Forty presymptomatic ATTRv subjects were enrolled. Twenty carriers (50%) had distal IENFD reduction, with a non-length-dependent distribution in 73% of cases. Eleven subjects (27.5%) had cold and/or warm detection threshold (CDT and/or WDT) abnormalities at QST. Delta-PADO positively correlated with sural sensory nerve action potential (SNAP) amplitude (r = .416, p = .004), and z-values of QST parameters like CDT (r = .314, p = .028), WDT (r = -.294, p = .034), and mechanical detection threshold (MDT; r = -.382, p = .012). Simple linear regression models showed a linear relation between delta-PADO and sural SAP, CDT, and MDT. CONCLUSIONS Our findings confirm that IENFD reduction and QST abnormalities may occur early in ATTRv presymptomatic carriers, often with a non-length-dependent pattern. However, only sural SAP amplitude and QST parameters correlated with delta-PADO, suggesting that serial combined QST and NCS evaluation could be useful in ATTRv presymptomatic carriers' follow-up.
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Affiliation(s)
- Luca Leonardi
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy
| | - Rocco Costanzo
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy
| | - Francesca Forcina
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy
| | - Stefania Morino
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy
| | - Giovanni Antonini
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy
| | - Marco Salvetti
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy
- Neuromed Institute IRCCS, Pozzilli, Isernia, Italy
| | - Marco Luigetti
- UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
- Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore. Sede di Roma, Rome, Italy
| | - Angela Romano
- UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
| | - Guido Primiano
- UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
| | - Valeria Guglielmino
- Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore. Sede di Roma, Rome, Italy
| | - Laura Fionda
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy
| | - Matteo Garibaldi
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy
| | - Antonio Lauletta
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy
| | - Elena Rossini
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy
| | - Laura Tufano
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy
| | - Marco Ceccanti
- Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy
| | - Nicoletta Esposito
- Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy
| | - Pietro Falco
- Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy
| | - Giuseppe di Pietro
- Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy
| | - Andrea Truini
- Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy
| | - Eleonora Galosi
- Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy
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Giordano C, Sciarrone MA, Vitali F, Romano A, Guerri G, Perlangeli V, Gaudino S, Luigetti M. Nerve MR in the Differential Diagnosis of Neuropathies: A Case Series from a Single Center. J Clin Med 2023; 12:5009. [PMID: 37568411 PMCID: PMC10419791 DOI: 10.3390/jcm12155009] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/27/2023] [Revised: 07/20/2023] [Accepted: 07/28/2023] [Indexed: 08/13/2023] Open
Abstract
In the present study, through a case series, we highlighted the role of magnetic resonance (MR) in the identification and diagnosis of peripheral neuropathies. MR neurography allows the evaluation of the course of nerves through 2D and 3D STIR sequences with an isotropic voxel, whereas the relationship between nerves, vessels, osteo-ligamentous and muscular structures can be appraised with T1 sequences. Currently, DTI and tractography are mainly used for experimental purposes. MR neurography can be useful in detecting subtle nerve alterations, even before the onset of symptoms. However, despite being sensitive, MR neurography is not specific in detecting nerve injury and requires careful interpretation. For this reason, MR information should always be supported by instrumental clinical tests.
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Affiliation(s)
- Carolina Giordano
- Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia, Fondazione Policlinico “A. Gemelli” IRCCS, 00168 Rome, Italy; (C.G.); (S.G.)
- Università Cattolica del Sacro Cuore, 00168 Rome, Italy; (M.A.S.); (F.V.); (G.G.); (V.P.)
| | | | - Francesca Vitali
- Università Cattolica del Sacro Cuore, 00168 Rome, Italy; (M.A.S.); (F.V.); (G.G.); (V.P.)
| | - Angela Romano
- Dipartimento Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico “A. Gemelli” IRCCS, 00168 Rome, Italy;
| | - Giulia Guerri
- Università Cattolica del Sacro Cuore, 00168 Rome, Italy; (M.A.S.); (F.V.); (G.G.); (V.P.)
| | - Valentina Perlangeli
- Università Cattolica del Sacro Cuore, 00168 Rome, Italy; (M.A.S.); (F.V.); (G.G.); (V.P.)
| | - Simona Gaudino
- Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia, Fondazione Policlinico “A. Gemelli” IRCCS, 00168 Rome, Italy; (C.G.); (S.G.)
- Università Cattolica del Sacro Cuore, 00168 Rome, Italy; (M.A.S.); (F.V.); (G.G.); (V.P.)
| | - Marco Luigetti
- Università Cattolica del Sacro Cuore, 00168 Rome, Italy; (M.A.S.); (F.V.); (G.G.); (V.P.)
- Dipartimento Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico “A. Gemelli” IRCCS, 00168 Rome, Italy;
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Arvidsson S, Eriksson R, Anan I, Heldestad V. Enlarged cross-sectional area in peripheral nerves in Swedish patients with hereditary V30M transthyretin amyloidosis. Ann Med 2023; 55:2239269. [PMID: 37619249 PMCID: PMC10453973 DOI: 10.1080/07853890.2023.2239269] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/27/2023] [Revised: 06/26/2023] [Accepted: 07/17/2023] [Indexed: 08/26/2023] Open
Abstract
INTRODUCTION In hereditary transthyretin amyloidosis (ATTRv), two different fibrillar forms causing the amyloid deposition, have been identified, displaying substantially cardiac or neuropathic symptoms. Neuropathic symptoms are more frequent in early-onset patients, whereas late-onset patients, besides cardiac symptoms, seem to develop carpal tunnel syndrome, more often. With ultrasonography (US) of peripheral nerves, it is possible to distinguish structural changes, and enlarged cross-sectional area (CSA). The main purpose of this study was, for the first time, to elucidate US of peripheral nerves in Swedish ATTRv patients at an early stage of the disease, and to evaluate possible early enlarged CSA. MATERIAL AND METHODS This prospective study included first visit data of 13 patients, aged 30-88 years, of which 11 with late-onset age. All had a positive V30M mutation. Eight men and six women (aged 28-74 years) served as controls. RESULTS Significantly enlarged CSA was seen in ATTRv patients for the tibial nerve at the ankle (p = .001), the sural nerve (p < .001), the peroneal nerve at the popliteal fossa (p = .003), and the ulnar nerve at the middle upper arm (p = .007). CONCLUSION US of peripheral nerves could be a valuable tool in disease evaluation and could facilitate monitoring of disease progression.
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Affiliation(s)
- Sandra Arvidsson
- Department of Surgical and Perioperative Sciences, Umeå University, Umea, Sweden
- Department of Clinical Microbiology, Umeå University, Umea, Sweden
| | - Robert Eriksson
- Clinical Neurophysiology, Umeå University Hospital, Umea, Sweden
| | - Intissar Anan
- Department of Public Health and Clinical Medicine, Umeå University, Umea, Sweden
- Wallenberg Centre for Molecular Medicine, Umeå University, Umea, Sweden
| | - Victoria Heldestad
- Department of Clinical Microbiology, Umeå University, Umea, Sweden
- Department of Clinical Sciences, Umeå University, Umea, Sweden
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Zaottini F, Picasso R, Pistoia F, Sanguinetti S, Pansecchi M, Tovt L, Viglino U, Cabona C, Garnero M, Benedetti L, Martinoli C. High-resolution ultrasound of peripheral neuropathies in rheumatological patients: An overview of clinical applications and imaging findings. Front Med (Lausanne) 2022; 9:984379. [PMID: 36388946 PMCID: PMC9661426 DOI: 10.3389/fmed.2022.984379] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/01/2022] [Accepted: 09/12/2022] [Indexed: 11/13/2022] Open
Abstract
Peripheral neuropathies are surprisingly common and can be associated with a number of conditions, including rheumatological diseases. Whether the co-existence of peripheral neuropathies with rheumatological disorders is coincidental or related to a common pathogenic mechanism, these disabling conditions can affect the outcome of rheumatological patients and should be targeted with specific treatment. The clinical presentation of peripheral neuropathy can be multifaceted and difficult to recognize in polysymptomatic patients. However, physicians adopting state-of-art diagnostic strategies, including nerve imaging, may improve the detection rate and management of neuropathies. In particular, a diagnostic approach relying exclusively on clinical history and nerve conduction studies may not be sufficient to disclose the etiology of the nerve damage and its anatomical location and thus requires integration with morphological studies. High-Resolution Ultrasound (HRUS) is increasingly adopted to support the diagnosis and follow-up of both joint disorders in rheumatology and peripheral neuropathies of different etiologies. In this review, the different types of nerve disorders associated with the most common syndromes of rheumatological interest are discussed, focusing on the distinctive sonographic features.
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Affiliation(s)
- Federico Zaottini
- San Martino Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Genoa, Italy
| | - Riccardo Picasso
- San Martino Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Genoa, Italy
- *Correspondence: Riccardo Picasso,
| | - Federico Pistoia
- Dipartimento di Medicina Sperimentale, Scuola di Scienze Mediche e Farmaceutiche, Università di Genova, Genoa, Italy
| | - Sara Sanguinetti
- Dipartimento di Medicina Sperimentale, Scuola di Scienze Mediche e Farmaceutiche, Università di Genova, Genoa, Italy
| | - Michelle Pansecchi
- Dipartimento di Scienze della Salute, Scuola di Scienze Mediche e Farmaceutiche, Università di Genova, Genoa, Italy
| | - Luca Tovt
- Dipartimento di Scienze della Salute, Scuola di Scienze Mediche e Farmaceutiche, Università di Genova, Genoa, Italy
| | - Umberto Viglino
- Dipartimento di Scienze della Salute, Scuola di Scienze Mediche e Farmaceutiche, Università di Genova, Genoa, Italy
| | - Corrado Cabona
- San Martino Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Genoa, Italy
- Eye Clinic, Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Science, School of Medical and Pharmaceutical Sciences, University of Genoa, Genoa, Italy
| | - Martina Garnero
- San Martino Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Genoa, Italy
- Eye Clinic, Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Science, School of Medical and Pharmaceutical Sciences, University of Genoa, Genoa, Italy
| | - Luana Benedetti
- San Martino Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Genoa, Italy
- Eye Clinic, Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Science, School of Medical and Pharmaceutical Sciences, University of Genoa, Genoa, Italy
| | - Carlo Martinoli
- San Martino Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Genoa, Italy
- Dipartimento di Scienze della Salute, Scuola di Scienze Mediche e Farmaceutiche, Università di Genova, Genoa, Italy
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Murakami T, Watanabe H, Yamamoto A, Sunada Y. Magnetic resonance imaging of dorsal root ganglion in a pre-symptomatic subject with familial amyloid polyneuropathy transthyretin E61K. J Neurol Sci 2022; 440:120329. [DOI: 10.1016/j.jns.2022.120329] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/19/2022] [Revised: 06/08/2022] [Accepted: 06/21/2022] [Indexed: 11/30/2022]
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10
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Severi D, Aruta F, Iovino A, Spina E, Nolano M, Manganelli F, Tozza S. Can we identify hereditary TTR amyloidosis by the screening of carpal tunnel syndrome patients? Neurol Sci 2022; 43:3435-3438. [DOI: 10.1007/s10072-021-05851-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/01/2021] [Accepted: 12/20/2021] [Indexed: 10/19/2022]
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11
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Du K, Xu K, Chu X, Tang Y, Lv H, Zhang W, Wang Z, Yuan Y, Meng L. Vagus nerve ultrasound in transthyretin familial amyloid polyneuropathy: A pilot study. J Neuroimaging 2021; 32:285-291. [PMID: 34964197 PMCID: PMC9306858 DOI: 10.1111/jon.12956] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/02/2021] [Revised: 11/22/2021] [Accepted: 11/23/2021] [Indexed: 11/27/2022] Open
Abstract
BACKGROUND AND PURPOSE Autonomic dysfunction is common in transthyretin familial amyloid polyneuropathy (TTR-FAP). Because ultrasonography is a powerful tool to study peripheral neuropathy, vagus nerve (VN) ultrasonography was used in our study to investigate the possible changes of the dimension of VN in TTR-FAP. METHODS Eighteen patients with TTR-FAP and 17 age- and gender-matched individuals without any neuropathies were enrolled in a pilot study. The cross-sectional areas (CSAs) were measured bilaterally on transverse scans of vagus, median, and ulnar nerves. Clinical data were collected to explore the correlations with CSAs of VN. RESULTS The median CSAs of VN in TTR-FAP were 3.5 (2.0-6.0) mm2 on the right side and 2.5 (1.0-6.0) mm2 on the left side, compared with 2.0 (1.0-3.0) mm2 and 1.0 (1.0-2.0) mm2 for healthy controls (HCs). There was a significant difference between the two groups on both sides (p < .001). The mean VN CSAs were correlated positively with the course of disease (r = .7203, p = .0016)（not including the patient with the longest disease course), the Composite Autonomic Symptom Score 31 (r = .5252, p = .0252), the left ventricular posterior wall thickness (r = .5426, p = .0200), and the interventricular septum thickness (r = .5103, p = .0305). The cutoff values of right and left VN CSAs to identify TTR-FAP from HCs were 2.5 and 1.5 mm2 and the areas under the curve were .9395 and .8856, with a high sensitivity (.889 and .889) and specificity (.941 and .765), respectively. CONCLUSION VN enlargement is prevalent among TTR-FAP patients. VN ultrasonography may be an important clinical tool for assessing the severity of autonomic dysfunction in TTR-FAP.
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Affiliation(s)
- Kang Du
- Department of Neurology, Peking University First Hospital, Beijing, China
| | - Ke Xu
- Department of Neurology, Peking University First Hospital, Beijing, China
| | - Xujun Chu
- Department of Neurology, Peking University First Hospital, Beijing, China
| | - Yuwei Tang
- Department of Neurology, Peking University First Hospital, Beijing, China
| | - He Lv
- Department of Neurology, Peking University First Hospital, Beijing, China
| | - Wei Zhang
- Department of Neurology, Peking University First Hospital, Beijing, China
| | - Zhaoxia Wang
- Department of Neurology, Peking University First Hospital, Beijing, China.,Beijing Key Laboratory of Neurovascular Disease Discovery, Peking University First Hospital, Beijing, China
| | - Yun Yuan
- Department of Neurology, Peking University First Hospital, Beijing, China.,Beijing Key Laboratory of Neurovascular Disease Discovery, Peking University First Hospital, Beijing, China
| | - Lingchao Meng
- Department of Neurology, Peking University First Hospital, Beijing, China.,Beijing Key Laboratory of Neurovascular Disease Discovery, Peking University First Hospital, Beijing, China
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12
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High-resolution ultrasound of peripheral nerves in late-onset hereditary transthyretin amyloidosis with polyneuropathy: similarities and differences with CIDP. Neurol Sci 2021; 43:3387-3394. [PMID: 34802089 DOI: 10.1007/s10072-021-05749-3] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/13/2021] [Accepted: 11/12/2021] [Indexed: 10/19/2022]
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.
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13
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Hannaford A, Vucic S, Kiernan MC, Simon NG. Review Article "Spotlight on Ultrasonography in the Diagnosis of Peripheral Nerve Disease: The Evidence to Date". Int J Gen Med 2021; 14:4579-4604. [PMID: 34429642 PMCID: PMC8378935 DOI: 10.2147/ijgm.s295851] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/22/2021] [Accepted: 07/27/2021] [Indexed: 11/23/2022] Open
Abstract
Neuromuscular ultrasound is rapidly becoming incorporated into clinical practice as a standard tool in the assessment of peripheral nerve diseases. Ultrasound complements clinical phenotyping and electrodiagnostic evaluation, providing critical structural anatomical information to enhance diagnosis and identify structural pathology. This review article examines the evidence supporting neuromuscular ultrasound in the diagnosis of compressive mononeuropathies, traumatic nerve injury, generalised peripheral neuropathy and motor neuron disease. Extending the sonographic evaluation of nerves beyond simple morphological measurements has the potential to improve diagnostics in peripheral neuropathy, as well as advancing the understanding of pathological mechanisms, which in turn will promote precise therapies and improve therapeutic outcomes.
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Affiliation(s)
- Andrew Hannaford
- Westmead Clinical School, Westmead Hospital, University of Sydney, Sydney, Australia
| | - Steve Vucic
- Westmead Clinical School, Westmead Hospital, University of Sydney, Sydney, Australia
| | - Matthew C Kiernan
- Brain and Mind Centre, University of Sydney, University of Sydney and Department of Neurology, Royal Prince Alfred Hospital, Sydney, Australia
| | - Neil G Simon
- Northern Beaches Clinical School, Macquarie University, Sydney, Australia
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14
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Leonardi L, Galosi E, Vanoli F, Fasolino A, Di Pietro G, Luigetti M, Sabatelli M, Fionda L, Garibaldi M, Alfieri G, Lauletta A, Morino S, Salvetti M, Truini A, Antonini G. Skin biopsy and quantitative sensory assessment in an Italian cohort of ATTRv patients with polyneuropathy and asymptomatic carriers: possible evidence of early non-length dependent denervation. Neurol Sci 2021; 43:1359-1364. [PMID: 34189665 DOI: 10.1007/s10072-021-05434-5] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/20/2021] [Accepted: 06/24/2021] [Indexed: 12/29/2022]
Abstract
AIM Study of intraepidermal nerve fiber density (IENFD) by skin biopsy represents a promising tool in the evaluation of patients with ATTRv polyneuropathy (ATTRv-PN). Herein, we retrospectively analyze intraepidermal innervation and quantitative sensory test (QST) data from an Italian cohort of Italian ATTRv-PN patients and asymptomatic carriers aimed to provide insights into early nerve pathological and functional changes in this disease. METHODS IENFD and QST data of 14 ATTRv-PN patients and 14 asymptomatic carriers were retrospectively analyzed together with clinical and paraclinical data such as disease stage and severity, neuropathic pain scales, and sural SNAP amplitude. RESULTS Given an estimated time to the predicted age of onset of symptomatic disease of 20.27 + / - 7.9 years, small nerve fiber loss seems to be unexpectedly early in carriers. Moreover, carriers showed skin denervation at the proximal (thigh) site, suggesting a non-length-dependent neuropathic process. IENFD at ankle correlated with disease severity and other paraclinical variables such as sural nerve potential amplitude and QST parameters. Patients at earlier stages of the disease did not show significant differences in ankle IENFD compared with asymptomatic carriers, but significant differences in terms of QST parameters, small fiber neuropathy symptoms, and neuropathic pain. CONCLUSIONS Skin biopsy can disclose an early non-length-dependent small fiber loss in ATTRv-PN and, together with QST, could provide a useful insight disease onset and progression.
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Affiliation(s)
- Luca Leonardi
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 1035-39 Grottarossa St., Rome, Italy.
| | - Eleonora Galosi
- Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy
| | - Fiammetta Vanoli
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 1035-39 Grottarossa St., Rome, Italy
| | | | - Giuseppe Di Pietro
- Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy
| | - Marco Luigetti
- Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, Rome, Italy.,Università Cattolica del Sacro Cuore, Rome, Italy
| | - Mario Sabatelli
- Università Cattolica del Sacro Cuore, Rome, Italy.,Centro Clinico NEMO, Rome, Italy
| | - Laura Fionda
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 1035-39 Grottarossa St., Rome, Italy
| | - Matteo Garibaldi
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 1035-39 Grottarossa St., Rome, Italy
| | - Girolamo Alfieri
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 1035-39 Grottarossa St., Rome, Italy
| | - Antonio Lauletta
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 1035-39 Grottarossa St., Rome, Italy
| | - Stefania Morino
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 1035-39 Grottarossa St., Rome, Italy
| | - Marco Salvetti
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 1035-39 Grottarossa St., Rome, Italy
| | - Andrea Truini
- Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy
| | - Giovanni Antonini
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 1035-39 Grottarossa St., Rome, Italy
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15
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Du K, Xu K, Cheng S, Lv H, Zhang W, Wang Z, Yuan Y, Meng L. Nerve Ultrasound Comparison Between Transthyretin Familial Amyloid Polyneuropathy and Chronic Inflammatory Demyelinating Polyneuropathy. Front Neurol 2021; 12:632096. [PMID: 33716932 PMCID: PMC7953716 DOI: 10.3389/fneur.2021.632096] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/22/2020] [Accepted: 02/08/2021] [Indexed: 11/13/2022] Open
Abstract
Backgrounds: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is frequently misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP) because of similar phenotypes in the two diseases. This study was intended to identify the role of nerve ultrasonography in evaluating TTR-FAP and CIDP. Methods: Eighteen patients with TTR-FAP, 13 patients with CIDP, and 14 healthy controls (HC) were enrolled in this study. Consecutive ultrasonography scanning was performed in six pairs of nerves of bilateral limbs with 30 sites. The cross-sectional areas (CSAs) and CSA variability data of different groups were calculated and compared. Results: Both TTR-FAP and CIDP showed larger CSAs at most sites of both upper and lower limbs than in HC groups. CIDP patients had larger CSAs than TTR-FAP patients at 8/15 of these sites, especially at U1-3, Sci2 sites (p < 0.01). However, the CSAs at above sites were not a credible index to differentiate TTR-FAP from CIDP with a low area under the curve (<0.8). The CSA variability of median nerves was significantly higher in CIDP than in TTR-FAP and HC groups, with high sensitivity (0.692) and specificity (0.833) to differentiate CIDP from TTR-FAP. The CSA variability of ulnar nerves was not significantly different between the three groups. For the TTR-FAP group, mean CSAs at each site were not correlated with different Coutinho stages, modified polyneuropathy disability, course of sensory motor peripheral neuropathy, Neuropathy Impairment Score, or Norfolk Quality of life-diabetic neuropathy score. The mean compound muscle action potential of ulnar nerves was negatively correlated with the mean CSAs of ulnar nerves. Interpretation: TTR-FAP patients had milder nerve enlargement with less variability in CSAs of median nerves than those with CIDP, suggesting that nerve ultrasound can be a potential useful auxiliary tool to help differentiate the two neuropathies.
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Affiliation(s)
- Kang Du
- Department of Neurology, Peking University First Hospital, Beijing, China
| | - Ke Xu
- Department of Neurology, Peking University First Hospital, Beijing, China
| | - Si Cheng
- Department of Neurology, Peking University First Hospital, Beijing, China.,Beijing Tiantan Hospital, Capital Medical University, Beijing, China
| | - He Lv
- Department of Neurology, Peking University First Hospital, Beijing, China
| | - Wei Zhang
- Department of Neurology, Peking University First Hospital, Beijing, China
| | - Zhaoxia Wang
- Department of Neurology, Peking University First Hospital, Beijing, China
| | - Yun Yuan
- Department of Neurology, Peking University First Hospital, Beijing, China
| | - Lingchao Meng
- Department of Neurology, Peking University First Hospital, Beijing, China
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16
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Canadian Guidelines for Hereditary Transthyretin Amyloidosis Polyneuropathy Management. Can J Neurol Sci 2021; 49:7-18. [PMID: 33631091 DOI: 10.1017/cjn.2021.34] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/15/2022]
Abstract
Hereditary transthyretin-mediated (hATTR) amyloidosis is a progressive disease caused by mutations in the TTR gene leading to multisystem organ dysfunction. Pathogenic TTR aggregation, misfolding, and fibrillization lead to deposition of amyloid in multiple body organs and frequently involve the peripheral nerve system and the heart. Common neurologic manifestations include: sensorimotor polyneuropathy (PN), autonomic neuropathy, small-fiber PN, and carpal tunnel syndrome. Many patients have significant progression due to diagnostic delays as hATTR PN is not considered within the differential diagnosis. Recently, two effective novel disease-modifying therapies, inotersen and patisiran, were approved by Health Canada for the treatment of hATTR PN. Early diagnosis is crucial for the timely introduction of these disease-modifying treatments that reduce impairments, improve quality of life, and extend survival. In this guideline, we aim to improve awareness and outcomes of hATTR PN by making recommendations directed to the diagnosis, monitoring, and treatment in Canada.
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17
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Nerve Ultrasound as Helpful Tool in Polyneuropathies. Diagnostics (Basel) 2021; 11:diagnostics11020211. [PMID: 33572591 PMCID: PMC7910962 DOI: 10.3390/diagnostics11020211] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/30/2020] [Revised: 01/26/2021] [Accepted: 01/27/2021] [Indexed: 02/06/2023] Open
Abstract
Background: Polyneuropathies (PNP) are a broad field of diseases affecting millions of people. While the symptoms presented are mostly similar, underlying causes are abundant. Thus, early identification of treatable causes is often difficult. Besides clinical data and basic laboratory findings, nerve conduction studies are crucial for etiological classification, yet limited. Besides Magnetic Resonance Imaging (MRI), high-resolution nerve ultrasound (HRUS) has become a noninvasive, fast, economic and available tool to help distinguish different types of nerve alterations in neuropathies. Methods: We aim to describe typical ultrasound findings in PNP and patterns of morphological changes in hereditary, immune-mediated, diabetic, metabolic and neurodegenerative PNP. Literature research was performed in PubMed using the terms ‘nerve ultrasound’, neuromuscular ultrasound, high-resolution nerve ultrasound, peripheral nerves, nerve enlargement, demyelinating, hereditary, polyneuropathies, hypertrophy’. Results: Plenty of studies over the past 20 years investigated the value of nerve ultrasound in different neuropathies. Next to nerve enlargement, patterns of nerve enlargement, echointensity, vascularization and elastography have been evaluated for diagnostic terms. Furthermore, different scores have been developed to distinguish different etiologies of PNP. Conclusions: Where morphological alterations of the nerves reflect underlying pathologies, early nerve ultrasound might enable a timely start of available treatment and also facilitate follow up of therapy success.
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18
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Leonardi L, Vanoli F, Fionda L, Loreti S, Garibaldi M, Morino S, Salvetti M, Russo D, Musumeci B, Antonini G. Nerve ultrasonography findings as possible pitfall in differential diagnosis between hereditary transthyretin amyloidosis with polyneuropathy and chronic inflammatory demyelinating polyneuropathy. Neurol Sci 2020; 41:3775-3778. [PMID: 32936357 DOI: 10.1007/s10072-020-04717-7] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/21/2020] [Accepted: 09/12/2020] [Indexed: 11/26/2022]
Abstract
Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare form of treatable severe progressive sensory-motor 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.
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Affiliation(s)
- Luca Leonardi
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.
| | - Fiammetta Vanoli
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy
| | - Laura Fionda
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy
| | - Simona Loreti
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy
| | - Matteo Garibaldi
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy
| | - Stefania Morino
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy
| | - Marco Salvetti
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy
| | - Domitilla Russo
- Division of Cardiology, Department of Clinical and Molecular Medicine, St. Andrea Hospital, Sapienza University, Rome, Italy
| | - Beatrice Musumeci
- Division of Cardiology, Department of Clinical and Molecular Medicine, St. Andrea Hospital, Sapienza University, Rome, Italy
| | - Giovanni Antonini
- Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy
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19
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Salvalaggio A, Coraci D, Cacciavillani M, Obici L, Mazzeo A, Luigetti M, Pastorelli F, Grandis M, Cavallaro T, Bisogni G, Lozza A, Gemelli C, Gentile L, Ermani M, Fabrizi GM, Plasmati R, Campagnolo M, Castellani F, Gasparotti R, Martinoli C, Padua L, Briani C. Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers. J Neurol 2020; 268:189-198. [PMID: 32749600 PMCID: PMC7815618 DOI: 10.1007/s00415-020-10127-8] [Citation(s) in RCA: 36] [Impact Index Per Article: 7.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/13/2020] [Revised: 07/27/2020] [Accepted: 07/28/2020] [Indexed: 11/15/2022]
Abstract
Background Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel syndrome (CTS) and/or polyneuropathy and in pre-symptomatic carriers. Methods Patients and pre-symptomatic carriers with a TTR gene mutation were enrolled from seven Italian centers. Severity of CTS was assessed with neurophysiology and clinical evaluation. Median nerve cross-section area (CSA) was measured with US in ATTRv carriers with CTS (TTR-CTS). One thousand one hundred ninety-six idiopathic CTS were used as controls. Nerve US was also performed in several nerve trunks (median, ulnar, radial, brachial plexi, tibial, peroneal, sciatic, sural) in ATTRv patients with polyneuropathy and in pre-symptomatic carriers. Results Sixty-two subjects (34 men, 28 women, mean age 59.8 years ± 12) with TTR gene mutation were recruited. With regard to CTS, while in idiopathic CTS there was a direct correlation between CTS severity and median nerve CSA (r = 0.55, p < 0.01), in the subgroup of TTR-CTS subjects (16 subjects, 5 with bilateral CTS) CSA did not significantly correlate with CTS severity (r = − 0.473). ATTRv patients with polyneuropathy showed larger CSA than pre-symptomatic carriers in several nerve sites, more pronounced at brachial plexi (p < 0.001). Conclusions The present study identifies nerve morphological US patterns that may help in the early diagnosis (morpho-functional dissociation of median nerve in CTS) and monitoring of pre-symptomatic TTR carriers (larger nerve CSA at proximal nerve sites, especially at brachial plexi).
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Affiliation(s)
- Alessandro Salvalaggio
- Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy. .,Padova Neuroscience Center (PNC), University of Padova, Padova, Italy.
| | - Daniele Coraci
- Neuroriabilitazione Ad Alta Intensità, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
| | | | - Laura Obici
- Amyloidosis Research and Treatment Centre, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
| | - Anna Mazzeo
- Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
| | - Marco Luigetti
- Neurology Unit, Fondazione Policlinico Universitario Gemelli IRCCS, Rome, Italy
| | | | - Marina Grandis
- Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genova, Genova, Italy.,Ospedale Policlinico San Martino IRCCS, Genova, Italy
| | - Tiziana Cavallaro
- Neurology Unit, Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy
| | | | - Alessandro Lozza
- Amyloidosis Research and Treatment Centre, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
| | - Chiara Gemelli
- Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genova, Genova, Italy
| | - Luca Gentile
- Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
| | - Mario Ermani
- Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy
| | - Gian Maria Fabrizi
- Neurology Unit, Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy
| | - Rosaria Plasmati
- IRCSS Istituto Scienze Neurologiche Città Di Bologna, Bologna, Italy
| | - Marta Campagnolo
- Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy
| | - Francesca Castellani
- Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy
| | - Roberto Gasparotti
- Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia, Brescia, Italy
| | - Carlo Martinoli
- Ospedale Policlinico San Martino IRCCS, Genova, Italy.,Department of Scienze Della Salute, University of Genova, Genova, Italy
| | - Luca Padua
- Neuroriabilitazione Ad Alta Intensità, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.,Department of Geriatrics, Neurosciences and Orthopaedics, Catholic University of the Sacred Heart, Rome, Italy
| | - Chiara Briani
- Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy
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20
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Carroll AS, Simon NG. Current and future applications of ultrasound imaging in peripheral nerve disorders. World J Radiol 2020; 12:101-129. [PMID: 32742576 PMCID: PMC7364285 DOI: 10.4329/wjr.v12.i6.101] [Citation(s) in RCA: 25] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/28/2020] [Revised: 05/10/2020] [Accepted: 05/28/2020] [Indexed: 02/06/2023] Open
Abstract
Neuromuscular ultrasound (NMUS) is a rapidly evolving technique used in neuromuscular medicine to provide complimentary information to standard electrodiagnostic studies. NMUS provides a dynamic, real time assessment of anatomy which can alter both diagnostic and management pathways in peripheral nerve disorders. This review describes the current and future techniques used in NMUS and details the applications and developments in the diagnosis and monitoring of compressive, hereditary, immune-mediated and axonal peripheral nerve disorders, and motor neuron diseases. Technological advances have allowed the increased utilisation of ultrasound for management of peripheral nerve disorders; however, several practical considerations need to be taken into account to facilitate the widespread uptake of this technique.
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Affiliation(s)
- Antonia S Carroll
- Brain and Mind Research Centre, University of Sydney, Camperdown 2050, NSW, Australia
- Department of Neurology, Westmead Hospital, University of Sydney, Westmead 2145, NSW, Australia
- Department of Neurology, St Vincent’s Hospital, Sydney, Darlinghurst 2010, NSW, Australia
| | - Neil G Simon
- Northern Clinical School, University of Sydney, Frenchs Forest 2086, NSW, Australia
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21
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Coraci D, Giovannini S, Loreti C, Ruggeri F, Padua L. The hyperchoic rim of the normal nerve in ultrasound: how significant is it? Neurol Sci 2020; 41:2985-2987. [PMID: 32358702 DOI: 10.1007/s10072-020-04405-6] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/09/2019] [Accepted: 04/10/2020] [Indexed: 10/24/2022]
Affiliation(s)
- Daniele Coraci
- Riabilitazione ad Alta Intensità, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Francesco Vito, 1, 00168, Rome, Italy.
| | - Silvia Giovannini
- Rehabilitation Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
| | - Claudia Loreti
- Riabilitazione ad Alta Intensità, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Francesco Vito, 1, 00168, Rome, Italy
| | | | - Luca Padua
- Riabilitazione ad Alta Intensità, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Francesco Vito, 1, 00168, Rome, Italy.,Department of Geriatrics, Neurosciences and Orthopaedics, Catholic University of Sacred Heart, Rome, Italy
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22
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Coraci D, Pagano FC, Loreti C, Murgia M, Padua L. "Hearing" with electrophysiology and "seeing" with ultrasound: A useful multidimensional approach for nerve disease assessment. J Clin Neurosci 2019; 64:256-257. [PMID: 30935749 DOI: 10.1016/j.jocn.2019.03.031] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/09/2019] [Accepted: 03/22/2019] [Indexed: 10/27/2022]
Affiliation(s)
- Daniele Coraci
- Neuroriabilitazione ad Alta Intensità, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168 Rome, Italy.
| | - Francesco C Pagano
- Geriatric Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
| | | | - Massimiliano Murgia
- Department of Physical Medicine and Rehabilitation, "Sapienza" University, Rome, Italy
| | - Luca Padua
- Neuroriabilitazione ad Alta Intensità, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Department of Geriatrics, Neurosciences and Orthopaedics, Università Cattolica del Sacro Cuore, Rome, Italy
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Telleman JA, Grimm A, Goedee S, Visser LH, Zaidman CM. Nerve ultrasound in polyneuropathies. Muscle Nerve 2018; 57:716-728. [PMID: 29205398 DOI: 10.1002/mus.26029] [Citation(s) in RCA: 60] [Impact Index Per Article: 8.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/30/2017] [Revised: 11/30/2017] [Accepted: 11/30/2017] [Indexed: 12/13/2022]
Abstract
Ultrasound can be used to visualize pathology in the peripheral nerves of patients with polyneuropathy. Nerve enlargement is the most frequent pathology, but other abnormalities, including abnormal nerve echogenicity and vascularity, are also encountered. This monograph presents an overview of the role of nerve ultrasound in the evaluation and management of both inherited and acquired polyneuropathies. A description of the sonographic techniques and common abnormalities is provided, followed by a presentation of typical findings in different neuropathies. Scoring systems for characterizing the presence and pattern of nerve abnormalities as they relate to different polyneuropathies are presented. Muscle Nerve 57: 716-728, 2018.
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Affiliation(s)
- Johan A Telleman
- Department of Neurology and Clinical Neurophysiology, Elisabeth-Tweesteden Hospital, Tilburg, The Netherlands.,Brain Center Rudolf Magnus, Department of Neurology and Neurosurgery, UMC Utrecht, Utrecht, The Netherlands
| | - Alexander Grimm
- Department Neurology, University Hospital Tuebingen, Germany
| | - Stephan Goedee
- Brain Center Rudolf Magnus, Department of Neurology and Neurosurgery, UMC Utrecht, Utrecht, The Netherlands
| | - Leo H Visser
- Department of Neurology and Clinical Neurophysiology, Elisabeth-Tweesteden Hospital, Tilburg, The Netherlands
| | - Craig M Zaidman
- Departments of Neurology and Pediatrics, Washington University St. Louis, Missouri, 660 South Euclid, Box 8111, St. Louis, Missouri, 63110-1093, USA
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24
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25
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Coraci D, Santilli V, Giovannini S, Padua L. The important use of ultrasound on a child with chronic pain. J Clin Anesth 2017; 38:105-106. [PMID: 28372644 DOI: 10.1016/j.jclinane.2017.01.035] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/20/2016] [Revised: 01/15/2017] [Accepted: 01/21/2017] [Indexed: 11/19/2022]
Affiliation(s)
- Daniele Coraci
- Board of Physical Medicine and Rehabilitation, Department of Orthopaedic Science, "Sapienza" University, Rome, Italy; Don Carlo Gnocchi ONLUS Foundation, Milan, Italy.
| | - Valter Santilli
- Board of Physical Medicine and Rehabilitation, Department of Orthopaedic Science, "Sapienza" University, Rome, Italy; Physical Medicine and Rehabilitation Unit, Azienda Policlinico Umberto I, Rome, Italy.
| | - Silvia Giovannini
- Rehabilitation Units, Policlinico Universitario Agostino Gemelli Foundation, Rome, Italy.
| | - Luca Padua
- Don Carlo Gnocchi ONLUS Foundation, Milan, Italy; Department of Geriatrics, Neurosciences and Orthopaedics, Università Cattolica del Sacro Cuore, Rome, Italy.
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26
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Podnar S, Sarafov S, Tournev I, Omejec G, Zidar J. Peripheral nerve ultrasonography in patients with transthyretin amyloidosis. Clin Neurophysiol 2017; 128:505-511. [PMID: 28226286 DOI: 10.1016/j.clinph.2017.01.013] [Citation(s) in RCA: 27] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/08/2016] [Revised: 12/23/2016] [Accepted: 01/15/2017] [Indexed: 02/06/2023]
Abstract
OBJECTIVE To systematically study peripheral nerve morphology in patients with transthyretin (TTR) amyloidosis and TTR gene mutation carriers using high-resolution ultrasonography (US). METHODS In this prospective cross-sectional study we took a structured history, performed neurological examination, and measured peripheral nerve cross-sectional areas (CSAs) bilaterally at 28 standard locations using US. Demographic and US findings were compared to controls. RESULTS Peripheral nerve CSAs were significantly larger in 33 patients with familial amyloid polyneuropathy (FAP) compared to 50 controls, most dramatically at the common entrapment sites (median nerve at the wrist, ulnar nerve at the elbow), and in the proximal nerve segments (median nerve in the upper arm, sciatic nerve in the thigh). Findings in 21 asymptomatic TTR gene mutation carriers were less marked compared to controls, with CSAs being larger only in the median nerve in the upper arm. Nerve CSAs correlated with abnormalities on nerve conduction studies. CONCLUSION Using US, we confirmed previous pathohistological and imaging reports in FAP of the most pronounced peripheral nerve thickening in the proximal limb segments. SIGNIFICANCE Similar to US findings in diabetic and vasculitic neuropathies these predominantly proximal locations of nerve thickening may be attributed to ischaemic nerve damage caused by poor perfusion in the watershed zones along proximal limb segments.
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Affiliation(s)
- Simon Podnar
- Institute of Clinical Neurophysiology, Division of Neurology, University Medical Centre Ljubljana, Slovenia.
| | - Stayko Sarafov
- Department of Neurology, Alexandrovska University Hospital, Sofia Medical University, Sofia, Bulgaria.
| | - Ivailo Tournev
- Department of Neurology, Alexandrovska University Hospital, Sofia Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Bulgaria.
| | - Gregor Omejec
- Institute of Clinical Neurophysiology, Division of Neurology, University Medical Centre Ljubljana, Slovenia.
| | - Janez Zidar
- Institute of Clinical Neurophysiology, Division of Neurology, University Medical Centre Ljubljana, Slovenia.
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27
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Coraci D, Santilli V, Giovannini S, Padua L. Comment on "peripheral nerve function in patients with excessive fragmentary myoclonus during sleep". Sleep Med 2017; 33:193. [PMID: 28049611 DOI: 10.1016/j.sleep.2016.11.001] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/28/2016] [Accepted: 11/09/2016] [Indexed: 10/20/2022]
Affiliation(s)
- Daniele Coraci
- Board of Physical Medicine and Rehabilitation, Department of Orthopaedic Science, "Sapienza" University, Rome, Italy; Don Carlo Gnocchi ONLUS Foundation, Milan, Italy.
| | - Valter Santilli
- Board of Physical Medicine and Rehabilitation, Department of Orthopaedic Science, "Sapienza" University, Rome, Italy; Physical Medicine and Rehabilitation Unit, Azienda Policlinico Umberto I, Rome, Italy.
| | - Silvia Giovannini
- Rehabilitation Units, Policlinico Universitario Agostino Gemelli Foundation, Rome, Italy.
| | - Luca Padua
- Don Carlo Gnocchi ONLUS Foundation, Milan, Italy; Department of Geriatrics, Neurosciences and Orthopaedics, Università Cattolica del Sacro Cuore, Rome, Italy.
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28
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Neuromuscular Ultrasound in the Assessment of Polyneuropathies and Motor Neuron Disease. J Clin Neurophysiol 2017; 33:86-93. [PMID: 27035248 DOI: 10.1097/wnp.0000000000000241] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/11/2022] Open
Abstract
Neuromuscular ultrasound is an emerging technology for the evaluation of conditions affecting nerve and muscle, with most of the research focusing on focal neuropathies. Despite this focus, researchers have also investigated the ultrasonographic changes that occur in the nerves and muscles of those with more diffuse polyneuropathies and motor neuron diseases, and this review will detail the findings in these conditions. Specific findings are discussed in this article, but general themes will also be presented and include the following: hereditary polyneuropathies show diffuse nerve enlargement, whereas immune-mediated polyneuropathies show more patchy involvement; nerve enlargement is more profound in demyelinating than axonal polyneuropathies; and muscle changes in motor neuron diseases include heterogeneous increases in echogenicity, atrophy, readily detectable fasciculations, and increased subcutaneous tissue thickness.
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29
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Pearson KT, Vota S. Amyloidosis and its management: Amyloid neuropathies. Curr Probl Cancer 2016; 40:198-208. [PMID: 27979324 DOI: 10.1016/j.currproblcancer.2016.08.001] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/31/2016] [Revised: 08/25/2016] [Accepted: 08/26/2016] [Indexed: 12/24/2022]
Affiliation(s)
- Kathleen Thornton Pearson
- Department of Neurology, Virginia Commonwealth University, 417 N. 11th Street Richmond, Virginia 23298.
| | - Scott Vota
- Department of Neurology, Virginia Commonwealth University, 417 N. 11th Street Richmond, Virginia 23298.
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30
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Rasenack M, Proebstel AK, Athanasopoulou IM, Décard BF, Grimm A. Nerve Hypertrophy in Primary Amyloidosis. Muscle Nerve 2016; 54:510-2. [PMID: 26999802 DOI: 10.1002/mus.25113] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/13/2015] [Revised: 03/18/2016] [Accepted: 03/18/2016] [Indexed: 12/12/2022]
Affiliation(s)
- Maria Rasenack
- Department of Neurology, Basel University Hospital, Basel, Switzerland
| | | | | | - Bernhard F Décard
- Department of Neurology, Basel University Hospital, Basel, Switzerland
| | - Alexander Grimm
- Department of Neurology, Basel University Hospital, Basel, Switzerland.,Department of Neurology, Tübingen University Hospital, Tübingen, Germany
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31
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Coraci D, Cambise C, Maria Del Tedesco F, Santilli V, Padua L. Ultrasound findings of carpal tunnel syndrome in a hunter syndrome patient. Muscle Nerve 2016; 53:661-2. [PMID: 26789420 DOI: 10.1002/mus.25023] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/01/2015] [Revised: 12/23/2015] [Accepted: 12/26/2015] [Indexed: 11/12/2022]
Affiliation(s)
- Daniele Coraci
- Board of Physical Medicine and Rehabilitation, Department of Orthopaedic Science, "Sapienza" University, Rome, Italy.,Don Gnocchi Foundation, Milan, Italy
| | - Chiara Cambise
- Department of Geriatrics, Neurosciences and Orthopaedics, Universit` Cattolica del Sacro Cuore, Rome, Italy
| | - Filippo Maria Del Tedesco
- Department of Geriatrics, Neurosciences and Orthopaedics, Universit` Cattolica del Sacro Cuore, Rome, Italy
| | - Valter Santilli
- Board of Physical Medicine and Rehabilitation, Department of Orthopaedic Science, "Sapienza" University, Rome, Italy.,Physical Medicine and Rehabilitation Unit, Azienda Policlinico Umberto I, Rome, Italy
| | - Luca Padua
- Don Gnocchi Foundation, Milan, Italy.,Department of Geriatrics, Neurosciences and Orthopaedics, Universit` Cattolica del Sacro Cuore, Rome, Italy
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32
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Luigetti M, Sabatelli M, Bellone E, Fabrizi GM, Padua L, Granata G. Nerve ultrasound in patients with CMT1C: Description of 3 cases. Muscle Nerve 2015; 51:781-2. [DOI: 10.1002/mus.24474] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/22/2014] [Revised: 09/24/2014] [Accepted: 09/29/2014] [Indexed: 12/29/2022]
Affiliation(s)
- Marco Luigetti
- Institute of Neurology, Catholic University of Sacred Heart; Rome Italy
| | - Mario Sabatelli
- Institute of Neurology, Catholic University of Sacred Heart; Rome Italy
| | - Emilia Bellone
- Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health; University of Genova; Genova Italy
- UO Medical Genetics, IRCCS AOU San Martino-IST; Genova Italy
| | - Gian Maria Fabrizi
- Department of Neurological, Neuropsychological, Morphological and Movement Sciences; University of Verona; Verona Italy
| | - Luca Padua
- Institute of Neurology, Catholic University of Sacred Heart; Rome Italy
- Fondazione Don Gnocchi Onlus; Milan Italy
| | - Giuseppe Granata
- Institute of Neurology, Catholic University of Sacred Heart; Rome Italy
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33
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Del Grande A, Sabatelli M, Luigetti M, Conte A, Granata G, Rufini V, Del Ciello A, Gaudino S, Fernandez E, Hohaus S, Coli A, Lauriola L. Primary multifocal lymphoma of peripheral nervous system: case report and review of the literature. Muscle Nerve 2014; 50:1016-22. [PMID: 25088432 DOI: 10.1002/mus.24354] [Citation(s) in RCA: 26] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 07/29/2014] [Indexed: 01/03/2023]
Abstract
INTRODUCTION Primary lymphomas of peripheral nerves are extremely rare, and only a few cases have been reported. METHODS We describe the clinical, neurophysiological, radiological, and pathological findings in a 61-year-old woman affected by primary multifocal lymphoma of the peripheral nervous system without systemic involvement. RESULTS Fascicular left femoral nerve biopsy was decisive for the diagnosis of diffuse large B-cell non-Hodgkin lymphoma. Magnetic resonance imaging, fluorine-18 fluorodeoxyglucose positron emission tomography computed tomography, and nerve ultrasound contributed to the diagnosis. CONCLUSIONS Primary lymphoma of peripheral nerves (PLPNs) is a rare but potentially treatable condition, which is frequently misdiagnosed. In the literature, there are very few descriptions of PLPNs, most of which are mononeuropathies. The possibility of a neuropathy associated with lymphoma should be considered in patients with poor response to treatment and severe pain symptoms.
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Affiliation(s)
- Alessandra Del Grande
- Institute of Neurology, Catholic University of Sacred Heart, Largo F. Vito 1, 00168, Rome, Italy
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