scholarly journals Autosomal dominant HMSN with proximal involvement: new Brazilian cases

2009 ◽  
Vol 67 (3b) ◽  
pp. 892-896 ◽  
Author(s):  
Cristiane Borges Patroclo ◽  
Angelina Maria Martins Lino ◽  
Paulo Eurípides Marchiori ◽  
Mário Wilson Iervolino Brotto ◽  
Maria Teresa Alves Hirata
Keyword(s):  
Serum Lipids ◽  
Autosomal Dominant ◽  
Phenotypic Variability ◽  
Electrophysiological Study ◽  
Sensory Neuropathy ◽  
Nerve Biopsy ◽  
Sural Nerve Biopsy ◽  
Muscle Enzymes ◽  
Sensory Disturbances ◽  
Original Report

We report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve biopsy were in the accordance with axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum lipids and muscle enzymes abnormalities. Our report is the first done by a group outside Japan, where the disease initially seemed to be restricted and stressed the phenotypic variability from the original report.

scholarly journals Sensorimotor Perineuritis – An Autoimmune Disease?

1985 ◽  
Vol 12 (2) ◽  
pp. 129-133 ◽  
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.

scholarly journals Hereditary Motor Sensory Neuropathy Type I Presenting as Scapuloperoneal Atrophy (Davidenkow Syndrome) Electrophysiological and Pathological Studies

1986 ◽  
Vol 13 (3) ◽  
pp. 264-266 ◽  
Author(s):  
Gabriel M. Ronen ◽  
Noel Lowry ◽  
John H. Wedge ◽  
Harvey B. Sarnat ◽  
Alan Hill
Keyword(s):  
Muscular Atrophy ◽  
Sensory Neuropathy ◽  
Nerve Biopsy ◽  
Sural Nerve Biopsy ◽  
Sensory Loss ◽  
Type I ◽  
Pes Cavus ◽  
Hereditary Motor ◽  
Bulb Formation ◽  
Onion Bulb Formation

ABSTRACT:A 14 year old boy with scapuloperoneal muscular atrophy, pes cavus, areflexia and distal sensory loss (Davidenkow syndrome) is described. Nerve conduction velocities were diminished. Sural nerve biopsy demonstrated a reduction in the number of myelinated fibers and early “onion-bulb” formation. These observations support the hypothesis that the scapuloperoneal amyotrophy associated with distal sensory loss may represent a variant of type I hereditary motor sensory neuropathy.

scholarly journals A – C.A.N.V.A.S (CEREBELLAR ATAXIA, NEURONOPATHY AND VESTIBULAR AREFLEXIA WITH AUTONOMIC DYSFUNCTION): A FASCINATING CLINICAL PORTRAIT

2018 ◽  
Vol 4 (3-4) ◽  
pp. 3-8
Author(s):  
Carlo Canepa-Raggio
Keyword(s):  
Cerebellar Ataxia ◽  
Autonomic Dysfunction ◽  
Cerebellar Atrophy ◽  
Sensory Neuropathy ◽  
Nerve Biopsy ◽  
Sural Nerve Biopsy ◽  
Downbeat Nystagmus ◽  
Charcot Marie Tooth Disease ◽  
Ocular Reflex ◽  
Vestibulo Ocular Reflex

57-year-old male patient with a 30-year history chronic cough, balance difficulties (most noticeable in the dark), ataxia and sensory neuropathy. There was also evidence of orthostatic hypotension and hypohydrosis. Examination revealed downbeat nystagmus, an abnormal visually-enhanced vestibulo-ocular reflex, length-dependent sensory neuropathy, high-stepping tandem ataxia and bilateral dysmetria. MRI brain shows marked vermian cerebellar atrophy (more noticeable in lobes VI and VIIa/b) and nerve conduction studies reveal absent sensory conductions (ganglionopathy). Genetic testing for Friedrich’s ataxia, spinocerebellar ataxia and hereditary motor sensory neuropathy (Charcot-Marie-Tooth disease) were all negative. Sural nerve biopsy showed pattern of severe loss of myelinated fibres. This patient was diagnosed with cerebellar ataxia, neuronopathy (ganglionopathy) and vestibular areflexia with autonomic dysfunction. Keywords: ataxia, neuronopathy, vestibular areflexia, autonomic dysfunction.

scholarly journals The potential role of hepatitis C virus in the pathogenesis of the neurological syndrome in chronic hepatitis C

Gut ◽  
1997 ◽  
Vol 41 (3) ◽  
pp. 411-412 ◽  
Author(s):  
C Caudai ◽  
D Maimone ◽  
P Almi ◽  
P Annunziata ◽  
I Bastianoni ◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis C ◽  
Chronic Hepatitis C ◽  
Sensory Neuropathy ◽  
Nerve Biopsy ◽  
Sural Nerve Biopsy ◽  
Hcv Rna ◽  
Acute Hcv ◽  
One Year ◽  
Inflammatory Infiltrates

A 72 year old man developed chronic sensory neuropathy (CSN) during chronic hepatitis C (HCV) infection. Neurological symptoms began one year after acute HCV hepatitis and slowly worsened over three years. No conventional cause for CSN was found. Circulating antinervous tissue antibodies (including anti-Hu) and inflammatory infiltrates in sural nerve biopsy specimens were absent. However, the presence of anti-HCV antibody and HCV-RNA in cerebrospinal fluid indicated that HCV had reached the intrathecal compartment, suggesting the direct viral involvement in the pathogenesis of CSN.

scholarly journals CASE REPORT OF ADULT-ONSET CHARCOT MARIE TOOTH TYPE X

2022 ◽  
Vol 8 (1) ◽  
pp. 68-71
Author(s):  
Richard Suherlim ◽  
Anak Agung Ayu Putri Laksmidewi ◽  
Sudiarini NKA
Keyword(s):  
Histopathological Examination ◽  
Clinical Manifestations ◽  
Sensory Neuropathy ◽  
Nerve Biopsy ◽  
Suspected Case ◽  
Charcot Marie Tooth ◽  
Neurology Clinic ◽  
Sensory Disturbances ◽  
Magnetic Resonance Imaging Mri ◽  
Hands And Feet

Charcot-Marie-Tooth (CMT) or Hereditary Motor and Sensory Neuropathy (HMSN) is the most common hereditary peripheral nerve disease with progressive chronic weakness, muscle atrophy, and sensory disturbances. There are several types and subtypes of CMT with their respective clinical manifestations. In this article, we reported a patient with of CMT type X. A 43-year-old male patient was referred to a neurology clinic with weakness in both limbs for 2 years, accompanied by tingling and sensory disturbance in both hands and feet. There are several of his family members who had similar complaints. Lumbosacral magnetic resonance imaging (MRI) examination revealed mild nucleus pulposus herniation. Electroneuromyography (ENMG) examination revealed demyelinating sensory motor polyneuropathy. Histopathological examination of nerve biopsy showed demyelination of the sural nerve. It is hard to make a diagnosis of CMT, because it requires high suspicion from clinicians once encounter a suspected case and also need to supported by sophisticated equipment such as electrophysiological examinations, nerve biopsy examinations, and genetic examinations. It is vital for clinicians for being able to diagnose CMT correctly and provide treatment as soon as possible in order to maintain the patients’ quality of life.

scholarly journals Eosinophilic Granulomatosis with Polyangiitis Presenting with Myocarditis as an Initial Symptom: A Case Report and Review of the Literature

2021 ◽  
pp. 329-333
Author(s):  
Kanako Kurihara ◽  
Jun Tsugawa ◽  
Shinji Ouma ◽  
Toshiyasu Ogata ◽  
Mikiko Aoki ◽  
...  
Keyword(s):  
Granulomatosis With Polyangiitis ◽  
Nerve Biopsy ◽  
Pulse Therapy ◽  
Sural Nerve Biopsy ◽  
Lower Limbs ◽  
Rapid Progression ◽  
Eosinophilic Granulomatosis With Polyangiitis ◽  
Initial Symptom ◽  
Steroid Pulse ◽  
Eosinophilic Granulomatosis

A 66-year-old woman with a history of bronchial asthma had shortness of breath and fatigue upon mild exercise. She was diagnosed as congestive heart failure. A blood test showed eosinophilia without the presence of anti-neutrophil cytoplasmic antibody (ANCA), and a myocardial biopsy specimen revealed eosinophilic infiltration in the myocardium. Eosinophilia was improved when she was administered short-term methylprednisolone. After that, she had numbness and pain in her lower limbs with re-elevation of eosinophils. She had dysesthesia and hypalgesia in the distal part of the limbs. Sural nerve biopsy revealed axonal degeneration and thickness of the arterial wall, indicating a diagnosis of eosinophilic granulomatosis with polyangiitis (EGPA). Two courses of steroid pulse therapy were performed, resulting in marked improvement of her sensory symptoms. ANCA-negative EGPA might be associated with myocarditis and peripheral neuropathy. A sufficient immunotherapy should have been considered to prevent rapid progression.

Detection of intact Borrelia garinii in a sural nerve biopsy

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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