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

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.

Download Full-text

Contribution of Skin Biopsy in Peripheral Neuropathies

Brain Sciences ◽

10.3390/brainsci10120989 ◽

2020 ◽

Vol 10 (12) ◽

pp. 989

Author(s):

Maria Nolano ◽

Stefano Tozza ◽

Giuseppe Caporaso ◽

Vincenzo Provitera

Keyword(s):

Skin Biopsy ◽

Nerve Fiber ◽

Sural Nerve ◽

Nerve Biopsy ◽

Nerve Fibers ◽

Sural Nerve Biopsy ◽

Invasive Technique ◽

Myelinated Fibers ◽

Small Fiber ◽

Over Time

In the last three decades the study of cutaneous innervation through 3 mm-punch-biopsy has provided an important contribution to the knowledge of small fiber somatic and autonomic neuropathies but also of large fiber neuropathies. Skin biopsy is a minimally invasive technique with the advantage, compared to sural nerve biopsy, of being suitable to be applied to any site in our body, of being repeatable over time, of allowing the identification of each population of nerve fiber through its target. In patients with symptoms and signs of small fiber neuropathy the assessment of IntraEpidermal Nerve Fiber density is the gold standard to confirm the diagnosis while the quantification of sudomotor, pilomotor, and vasomotor nerve fibers allows to evaluate and characterize the autonomic involvement. All these parameters can be re-evaluated over time to monitor the disease process and to evaluate the effectiveness of the treatments. Myelinated fibers and their receptors can also be evaluated to detect a “dying back” neuropathy early when nerve conduction study is still normal. Furthermore, the morphometry of dermal myelinated fibers has provided new insight into pathophysiological mechanisms of different types of inherited and acquired large fibers neuropathies. In genetic neuropathies skin biopsy has become a surrogate for sural nerve biopsy, no longer necessary in the diagnostic process, to study genotype–phenotype correlations.

Download Full-text

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

Brain Sciences ◽

10.3390/brainsci10110780 ◽

2020 ◽

Vol 10 (11) ◽

pp. 780 ◽

Cited By ~ 1

Author(s):

Marco Luigetti ◽

Marina Romozzi ◽

Giulia Bisogni ◽

Davide Cardellini ◽

Tiziana Cavallaro ◽

...

Keyword(s):

Sural Nerve ◽

Genetic Test ◽

Nerve Biopsy ◽

Sural Nerve Biopsy ◽

Pathological Findings ◽

Transthyretin Amyloidosis ◽

Amyloid Deposits ◽

Frequent Mutations ◽

Long Time ◽

Inflammatory Infiltrates

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.

Download Full-text

THE NEUROPATHY SPECTRUM IN WALDENSTRöM'S MACROGLOBULINAEMIA

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp-2015-312379.152 ◽

2015 ◽

Vol 86 (11) ◽

pp. e4.60-e4

Author(s):

Aisling Carr ◽

Zane Jaunmuktane ◽

Sebastian Brandner ◽

J Kothari ◽

Julian Blake ◽

...

Keyword(s):

Peripheral Nerves ◽

Sural Nerve ◽

Axonal Neuropathy ◽

Diagnostic Algorithm ◽

Nerve Biopsy ◽

Sural Nerve Biopsy ◽

Tumour Invasion ◽

Cellular Infiltrate ◽

Leucocytoclastic Vasculitis ◽

Large Fibre

BackgroundUK WM Guidelines recognise 2 mechanisms of nervous system involvement either direct tumour invasion of the CNS or antibody mediated damage to peripheral nerves. We present 5 cases illustrating an extended diversity of PNS involvement in WM with implications for treatment and outcome.CasesA 73 year-old man (IgMκ WM) developed progressively disabling tremor with stable WM. Neurophysiology was demyelinating with disproportionate DMLs; anti-MAG antibodies were strongly positive. He was treated with DRC with symptom stabilisation.A 64 year-old woman (IgMκ) with typical anti-MAG neuropathy developed severe episodic foot pain and ulceration. Skin biopsy confirmed leucocytoclastic vasculitis. She was treated with DRC but died from sepsis.A 43 year-old man (IgMκ WM) with rapidly progressive sensorimotor neuropathy had lymphplasmacytoid cellular infiltrate in sural nerve. He was successfully treated with IDARAM.A 59 year-old man (IgMλ WM) developed small then large fibre axonal neuropathy with autonomic symptoms within 2 years. A SAP scan showed moderate kidney uptake. MRI neurography directed biopsy and confirmed amyloid. Palliative treatment was offered.A 70 year-old woman (IgMλ WM) developed severe burning pains in her feet and became ataxic 2 months later. Sural nerve biopsy confirmed endoneurial amyloid. DRC was given.DiscussionThese cases highlight the importance of accurate diagnosis in WM-associated neuropathy. We propose a novel diagnostic algorithm.

Download Full-text

Necrotizing Lymphocytic Vasculitis Limited to the Peripheral Nerves: Report of Six Cases and Review

International Journal of Rheumatology ◽

10.1155/2009/368032 ◽

2009 ◽

Vol 2009 ◽

pp. 1-5 ◽

Cited By ~ 6

Author(s):

José Félix Restrepo ◽

Federico Rondón ◽

Eric L. Matteson ◽

Carlos H. Colegial ◽

Gerardo Quintana ◽

...

Keyword(s):

Blood Vessels ◽

Peripheral Nerves ◽

Sural Nerve ◽

Clinical Manifestations ◽

Case Series ◽

Nerve Biopsy ◽

Sural Nerve Biopsy ◽

Response To Treatment ◽

Motor Deficits ◽

Primary Vasculitis

Background. The systemic vasculitides are syndromes characterized by inflammation and injury (necrosis or thrombosis) of blood vessels, resulting in clinical manifestations according to the affected vascular bed, but not classically in stocking-glove neuropathy.Objective. To describe a form of primary vasculitis affecting strictly peripheral nerves manifesting as stocking-glove neuropathy.Methods. Case series of 110 patients seen in three centers in Bogotá who presented with symptoms and signs of polyneuropathy and/or were identified with vasculitis affecting only the peripheral nerves, and who underwent sural nerve biopsy.Results. Six patients had a vasculitis affecting only the peripheral nerves diagnosed on sural nerve biopsy which demonstrated a mixed infiltrate of monocytes/macrophages and lymphocytes especially in the small epineurial blood vessels. Over time, all had worsening of symptoms, with grip weakness and motor deficits in the hand and feet. Serologies and acute phase reactants were normal in all patients. Treatment response to immunosuppression was satisfactory in 5 patients; 1 patient had progressive neurologic damage.Conclusions. There is a distinct form of primary vasculitis of the peripheral nervous system characterized by distal sensory polyneuropathy with stocking-glove distribution with good prognosis, few and minor relapses and good response to treatment even after delayed diagnosis.

Download Full-text

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.

Download Full-text

Innervation of endoneurial microvessels in human sural nerve

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100125002 ◽

1992 ◽

Vol 50 (1) ◽

pp. 920-921

Author(s):

John L. Beggs ◽

Peter C. Johnson ◽

Astrid G. Olafsen ◽

C. Jane Watkins

Keyword(s):

Blood Flow ◽

Blood Vessels ◽

Blood Supply ◽

Peripheral Nerves ◽

Sural Nerve ◽

Nerve Fibers ◽

Arterial Supply ◽

Autonomic Nerve ◽

Vasa Nervorum ◽

Endoneurial Blood Flow

The blood supply (vasa nervorum) to peripheral nerves is composed of an interconnected dual circulation. The endoneurium of nerve fascicles is maintained by the intrinsic circulation which is composed of microvessels primarily of capillary caliber. Transperineurial arterioles link the intrinsic circulation with the extrinsic arterial supply located in the epineurium. Blood flow in the vasa nervorum is neurogenically influenced (1,2). Although a recent hypothesis proposes that endoneurial blood flow is controlled by the action of autonomic nerve fibers associated with epineurial arterioles (2), our recent studies (3) show that in addition to epineurial arterioles other segments of the vasa nervorum are also innervated. In this study, we examine blood vessels of the endoneurium for possible innervation.

Download Full-text