hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

Pathological evidence of amyloid on nerve biopsy has been the gold standard for diagnosis in hereditary transthyretin amyloidosis polyneuropathy (hATTR-PN) for a long time. In this article, we reviewed the pathological findings of a large series of sural nerve biopsies from a cohort of hATTR-PN patients, collected by different Italian referral centers. Patients and Methods: We reviewed clinical and pathological data from hATTR-PN patients, diagnosed and followed in five Italian referral centers for peripheral neuropathies. Diagnosis was formulated after a positive genetic test for transthyretin (TTR) mutations. Sural nerve biopsy was performed according to standard protocols. Results: Sixty-nine sural nerve biopsies from hATTR-PN patients were examined. Congo red positive deposits were found in 73% of cases. Only the Phe64Leu mutation failed to show amyloid deposits in a high percentage of biopsies (54%), as already described. Unusual pathological findings, such as myelin abnormalities or inflammatory infiltrates, were detected in occasional cases. Conclusions: Even if no longer indicated to confirm hATTR-PN clinical suspicion, nerve biopsy remains, in expert hands, a rapid and inexpensive tool to detect amyloid deposition. In Italy, clinicians should be aware that a negative biopsy does not exclude hATTR-PN, particularly for Phe64Leu, one of the most frequent mutations in this country.

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Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center Experience

Brain Sciences ◽

10.3390/brainsci10060383 ◽

2020 ◽

Vol 10 (6) ◽

pp. 383 ◽

Cited By ~ 2

Author(s):

Marco Luigetti ◽

Angela Romano ◽

Andrea Di Paolantonio ◽

Giulia Bisogni ◽

Salvatore Rossi ◽

...

Keyword(s):

Sural Nerve ◽

Pathological Finding ◽

Nerve Biopsy ◽

Sural Nerve Biopsy ◽

Chronic Inflammatory Demyelinating Polyradiculoneuropathy ◽

Pathological Findings ◽

Single Center ◽

Segmental Demyelination ◽

Single Center Experience ◽

Inflammatory Infiltrates

Objective: Segmental demyelination is the pathological hallmark of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), but other elementary lesions are frequently observed, configuring a series of different pathological pictures. In this article, we review the pathological findings of a large series of sural nerve biopsies from our cohort of CIDP patients. Patients and Methods: Patients with CIDP who underwent nerve biopsy were retrospectively selected from those referred to the Institute of Neurology of the “Università Cattolica del Sacro Cuore” in Rome, Italy, from 1982 to February 2020. Sural nerve biopsy was performed according to standard protocols. Results: Sural nerve biopsy was performed in 43/130 CIDP patients. Demyelinating abnormalities and axonal loss were found in 67.4% and 83.7% of biopsies, respectively. Conversely, onion bulbs and inflammatory infiltrates were rare (18.6% and 4.7%, respectively). In three cases, we observed normal pathological findings. Conclusions: A pathognomonic pathological finding of CIDP cannot be established, but we confirm the utility of nerve biopsy in this setting to confirm the diagnosis (also in atypical phenotypes) and to elucidate pathogenic mechanisms.

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Small-fiber polyneuropathy in leprosy without skin changes: study of 17 cases

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2003000400003 ◽

2003 ◽

Vol 61 (3A) ◽

pp. 542-546 ◽

Cited By ~ 22

Author(s):

Marcos R.G. de Freitas ◽

Osvaldo J.M. Nascimento ◽

Ernestina A.M. Quaglino ◽

Andréia Oliveira ◽

Myrian D. Hahn

Keyword(s):

Peripheral Nerves ◽

Sural Nerve ◽

Nerve Biopsy ◽

Nerve Fibers ◽

Sural Nerve Biopsy ◽

Skin Changes ◽

Small Fiber ◽

Individual Variations ◽

Inflammatory Infiltrates ◽

Tendon Reflexes

Leprosy is one of the most common diseases of the peripheral nerves. In some cases there is only neural involvement without skin changes (neuritic form). The neuropathy has often a distal stocking and glove distribution with thermal and pinprick anesthesia and preservation of proprioception. There is no weakness, the tendon reflexes may be preserved and sometimes the nerves are thickened. We reported 17 patients with a predominantly small-fiber polyneuropathy due to leprosy. All patients had distal temperature and pain anesthesia with different individual variations. The tendon reflexes were normal in seven patients and in eight there was thickening of the nerves. The nerve conduction was normal in three patients. Sural nerve biopsy consisted of: 1) inflammatory infiltrates, 2) vacuolated "foamy" cells, 3) fibrosis of endoneurium, perineurium, and epineurium, 4) partial or total loss of nerve fibers, 5) large number of bacilli. We concluded that in countries where leprosy is frequent, nerve biopsy is an obligatory procedure in patients with predominantly small-fiber polyneuropathy.

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Detection of intact Borrelia garinii in a sural nerve biopsy

Muscle & Nerve ◽

10.1002/mus.27215 ◽

2021 ◽

Author(s):

Thomas Schneider ◽

Stephan Frank ◽

Amrei Beuttler ◽

Suzie Diener ◽

Kirsten Mertz ◽

...

Keyword(s):

Sural Nerve ◽

Nerve Biopsy ◽

Sural Nerve Biopsy ◽

Borrelia Garinii

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Sensory potentials and sural nerve biopsy: A Model evaluation

Muscle & Nerve ◽

10.1002/mus.880100309 ◽

1987 ◽

Vol 10 (3) ◽

pp. 246-262 ◽

Cited By ~ 13

Author(s):

Ruurd Schoonhoven ◽

Ronald L. L. A. Schellens ◽

Dick F. Stegeman ◽

Anneke A. W. M. Gabreëls-Festen

Keyword(s):

Model Evaluation ◽

Sural Nerve ◽

Nerve Biopsy ◽

Sural Nerve Biopsy

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Diagnostic usefulness and limitations of the sural nerve biopsy

Yonsei Medical Journal ◽

10.3349/ymj.1990.31.1.1 ◽

1990 ◽

Vol 31 (1) ◽

pp. 1 ◽

Cited By ~ 47

Author(s):

Sin J. Oh

Keyword(s):

Sural Nerve ◽

Nerve Biopsy ◽

Sural Nerve Biopsy ◽

Diagnostic Usefulness

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Comparison between fascicular and whole sural nerve biopsy

Annals of Neurology ◽

10.1002/ana.410130114 ◽

1983 ◽

Vol 13 (1) ◽

pp. 65-68 ◽

Cited By ~ 41

Author(s):

Martin Pollock ◽

Hitoshi Nukada ◽

Peter Taylor ◽

Ivan Donaldson ◽

Grant Carroll

Keyword(s):

Sural Nerve ◽

Nerve Biopsy ◽

Sural Nerve Biopsy

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Primary Neural Leprosy mimicking rheumatological disorders

Revista da Associação Médica Brasileira ◽

10.1590/1806-9282.65.6.767 ◽

2019 ◽

Vol 65 (6) ◽

pp. 767-770 ◽

Cited By ~ 1

Author(s):

Renata Carolina Schlögel de Freitas ◽

Carlos Augusto Zanardini Pereira ◽

Nadia Tannous Muri ◽

Valéria Aparecida Zanela Franzon ◽

Carlos Alberto Camorim Fatuch

Keyword(s):

Sural Nerve ◽

Functional Disability ◽

Public Health Problem ◽

Nerve Biopsy ◽

Skin Lesions ◽

Sural Nerve Biopsy ◽

Minimal Amount ◽

High Prevalence ◽

Rheumatological Disease ◽

Nerve System

SUMMARY Leprosy is a chronic infectious disease caused by Mycobacterium leprae, which affects mainly the skin and peripherical nerves. Brasil has not yet achieved its goal of elimination of the number of cases of this disease, ranking second in terms of absolute numbers worldwide, with India occupying the first position. Primary Neural Leprosy is considered to be a challenge in diagnosis, since it affects the peripherical nerve system with the absence of skin lesions, thus mimicking rheumatological disorders, like in the case presented. A male, 31, with no previous comorbidities, five years ago, started feeling severe pain in the left ankle as well as morning hand pain and stiffness. After many years of being submitted to intense rheumatological disease investigation, they all proved to be negative. Upon physical examination, the patient presented no skin lesions, symmetric polyarthritis in metacarpophalangeal joints and thickness of the left sural nerve. Lab exams showed no alterations and bacilloscopy was negative. Ultrasonography was used to investigate the thickness of the left sural nerve. Biopsy showed a minimal amount of perineural lymphocytes and positive AFB testing. Based on the electroneuromyography, the conclusion was multiple mononeuropathy, and multibacillary polychemotherapy was started. Leprosy remains a public health problem in Brasil. Due to the high prevalence of the disease, our medical colleagues must be alert and trained to recognize this clinical presentation of leprosy. Correct referral to Reference Centers accelerates research, contributing to an accurate diagnosis, classification, and treatment, thus preventing irreversible sequelae with severe functional disability.

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Sensorimotor Perineuritis – An Autoimmune Disease?

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s0317167100046837 ◽

1985 ◽

Vol 12 (2) ◽

pp. 129-133 ◽

Cited By ~ 20

Author(s):

Christopher N. Bourque ◽

Brian A. Anderson ◽

C. Martin del Campo ◽

Anders A. F. Sima

Keyword(s):

Peripheral Nerve ◽

Mononuclear Cells ◽

Sensory Neuropathy ◽

Nerve Biopsy ◽

Sural Nerve Biopsy ◽

Gradual Improvement ◽

Immune Mediated ◽

Nerve Dysfunction ◽

Inflammatory Infiltrates ◽

Perineurial Cells

ABSTRACT:The literature contains a single description of sensory perineuritis (Asbury et al 1972). These patients demonstrated a painful, distal, sensory neuropathy, and examination of peripheral nerve biopsies revealed focal thickening and inflammatory infiltrates of the perineurium. We report a patient with sensorimotor peripheral nerve dysfunction, accompanied by progressive slowing of nerve conduction velocity. Examination of a sural nerve biopsy demonstrated focal thickening of the perineurium, inflammatory infiltrates, and necrosis of perineurial cells. Immunohistology revealed a patchy precipitation of IgG and IgM on perineurial cells. Ultrastructurally, mononuclear cells were found adjacent to perineurial cells undergoing necrosis. The patient showed gradual improvement partially coinciding with a course of steroid therapy. We suggest that this neuropathy is caused by damage to the perineurial barrier possibly by an immune-mediated destruction of perineurial cells and subsequent compression of the endoneurial content by perineurial scarring.

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