Inflammatory demyelinating neuropathy heralding accelerated chediak-higashi syndrome.


INTRODUCTION:Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising. Survivors develop a constellation of slowly progressive neurological manifestations. METHODS:We describe clinical, laboratory, electrophysiological, and genetic findings of a patient who developed an immune-mediated demyelinating neuropathy as the main clinical feature of CHS. RESULTS:The patient presented with subacute flaccid paraparesis, absent reflexes, and reduced vibration sense. Protein and immunoglobulins (Igs) were elevated in the cerebrospinal fluid. Electrodiagnostic tests indicated an acquired chronic demyelinating polyneuropathy. Intravenous Ig and immunosuppressant treatment resulted in neurological improvement. The patient later developed organomegaly and pancytopenia. Bone-marrow smear revealed giant azurophilic granules pathognomonic for CHS. Two novel mutations in the LYST gene were identified through whole exome sequencing [c.7786C>T and c.9106 + 1G>T]. CONCLUSIONS:This case expands the clinical phenotype of CHS and highlights inflammatory demyelinating neuropathy as a manifestation of the disease. Muscle Nerve 55: 756-760, 2017.


Muscle Nerve


Muscle & nerve


Faber IV,Prota JRM,Martinez ARM,Nucci A,Lopes-Cendes I,Júnior MCF




Has Abstract


2017-05-01 00:00:00












  • Beta-oxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiency.

    abstract::In a reported patient with myopathic carnitine deficiency, addition of exogenous carnitine to muscle homogenates failed to correct palmitate oxidation, and oral carnitine was of no clinical benefit. In a muscle biopsy from this patient, we found that, in contrast to the marked deficiency of free carnitine (3% of norma...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Trevisan CP,Reichmann H,DeVivo DC,DiMauro S

    更新日期:1985-10-01 00:00:00

  • A population-based survey of risk for cancer in individuals diagnosed with myotonic dystrophy.

    abstract:INTRODUCTION:The risk of cancer in patients diagnosed with myotonic dystrophy (DM) is reported for the homogeneous Utah population. METHODS:Clinical data accessed from the largest Utah healthcare providers have been record-linked to the Utah Population Database, a population-based resource also linked to the Utah Canc...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Abbott D,Johnson NE,Cannon-Albright LA

    更新日期:2016-10-01 00:00:00

  • Ultrasound imaging of the quadriceps muscle in elderly athletes and untrained men.

    abstract::Ultrasound (US) technique was applied to measure the thickness, cross-sectional area (CSA), and internal structure of the quadriceps muscle in 70- to 80-year-old endurance and power athletes and untrained men. Isometric knee extension strength was higher in the power athletes than in the other groups. The mean values ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Sipilä S,Suominen H

    更新日期:1991-06-01 00:00:00

  • Guidelines for ethical behavior relating to clinical practice issues in neuromuscular and electrodiagnostic medicine.

    abstract::The American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) developed guidelines to formalize the ethical standards that neuromuscular and electrodiagnostic (EDx) physicians should observe in their clinical and scientific activities. Neuromuscular and EDx medicine is a subspecialty of medicine that ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Abel NA,De Sousa EA,Govindarajan R,Mayer MP,Simpson DA

    更新日期:2015-12-01 00:00:00

  • The utility of a point-of-care sural nerve conduction device for detection of diabetic polyneuropathy: A cross-sectional study.

    abstract:INTRODUCTION:Rapid and accessible methods for diagnosing diabetic polyneuropathy (DPN) have been developed, but not validated, in large cohorts of people with diabetes. METHODS:The performance of a point-of-care device (POCD) was studied in 168 patients with type 2 diabetes, estimating the sensitivity, specificity, po...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Kural MA,Andersen ST,Andersen NT,Andersen H,Charles M,Finnerup NB,Jensen TS,Tankisi H

    更新日期:2019-02-01 00:00:00

  • A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.

    abstract::At least 50 disease-causing mutations in the skeletal muscle voltage-gated chloride channel gene (CLCN1), almost all of which originate from Caucasian families, have been identified. We investigated a Japanese family with Thomsen's myotonia congenita that included 16 affected individuals (8 men and 8 women) through fi...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Sasaki R,Ito N,Shimamura M,Murakami T,Kuzuhara S,Uchino M,Uyama E

    更新日期:2001-03-01 00:00:00

  • Do acetylcholine receptor and striated muscle antibodies predict the presence of thymoma in patients with myasthenia gravis?

    abstract:INTRODUCTION:Acetylcholine receptor (AChR) and striated muscle antibodies (StrAbs) are found frequently in myasthenia gravis (MG) patients with thymoma. In this study we aimed to determine the positive predictive value (PPV) and negative predictive value (NPV) of these antibodies for thymoma in patients with MG. METHO...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Choi Decroos E,Hobson-Webb LD,Juel VC,Massey JM,Sanders DB

    更新日期:2014-01-01 00:00:00

  • Autophagy markers LC3 and p62 accumulate in immune-mediated necrotizing myopathy.

    abstract:INTRODUCTION:The molecular mechanism of immune-mediated necrotizing myopathy (IMNM) remains unknown. Autophagy impairment, described in autoimmune diseases, is a key process in myofiber protein degradation flux and muscle integrity and has not been studied in IMNM. METHODS:Muscle biopsies from patients with IMNM (n = ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Girolamo F,Lia A,Annese T,Giannini M,Amati A,D'Abbicco D,Tampoia M,Virgintino D,Ribatti D,Serlenga L,Iannone F,Trojano M

    更新日期:2019-09-01 00:00:00

  • Proximal median neuropathy secondary to humeral neck fracture.

    abstract::Median neuropathies proximal to the wrist are uncommon and usually result from penetrating injuries, fracture dislocation of the distal humerus, or compression by fibrous bands. A 66-year-old man suffered a comminuted fracture of the proximal humerus after a fall. Electrodiagnostic studies revealed a severe proximal m...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Veilleux M,Richardson P

    更新日期:2000-03-01 00:00:00

  • Electrical stimulation impairs early functional recovery and accentuates skeletal muscle atrophy after sciatic nerve crush injury in rats.

    abstract::Neuromuscular recovery after peripheral nerve lesion depends on the regeneration of severed axons that re-establish their functional connection with the denervated muscle. The aim of this study was to determine the effects of electrical stimulation (ES) on the neuromuscular recovery after nerve crush injury in rats. E...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Gigo-Benato D,Russo TL,Geuna S,Domingues NR,Salvini TF,Parizotto NA

    更新日期:2010-05-01 00:00:00

  • Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.

    abstract::Muscular dystrophy is defined as the progressive wasting of skeletal muscles that is caused by inherited or spontaneous genetic mutations. Next-generation sequencing has greatly improved the accuracy and speed of diagnosis for different types of muscular dystrophy. Advancements in depth of coverage, convenience, and o...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审


    authors: Hightower RM,Alexander MS

    更新日期:2018-01-01 00:00:00

  • Myasthenia gravis: a personal view of pathogenesis and mechanism, part 2.

    abstract::A review of our current knowledge of the etiology and pathogenesis of myasthenia gravis is presented, with particular emphasis on the immunological aspects of the disease. Part 1, published in the January/February issue of MUSCLE & NERVE, dealt with the clinical and genetic features of myasthenia gravis which led to t...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审


    authors: Simpson JA

    更新日期:1978-03-01 00:00:00

  • On the shape of the normal turns--amplitude cloud.

    abstract::Factors that affect the shape of the so-called "normal cloud" of the turns and amplitude measurements of the electromyographic interference pattern are investigated. As the force of voluntary contraction increases from low to moderate levels, the number of turns in the signal increase faster than does the mean amplitu...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Nandedkar SD,Sanders DB,Stalberg EV

    更新日期:1991-01-01 00:00:00

  • Function of thick and thin nerve fibers in carpal tunnel syndrome before and after surgical treatment.

    abstract::Present studies evaluated the functions of thick and thin nerve fibers in carpal tunnel syndrome (CTS) to determine whether data of thin nerve fibers can add further information to the diagnosis of CTS. Measurements were performed in 22 patients and 16 age-matched control subjects. Motor and sensory nerve conduction, ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Lang E,Spitzer A,Pfannmüller D,Claus D,Handwerker HO,Neundörfer B

    更新日期:1995-02-01 00:00:00

  • Acoustic and electrical activities during voluntary isometric contraction of biceps brachii muscles in patients with spastic cerebral palsy.

    abstract::This study was designed to compare electromyogram (EMG) and acoustic myogram (AMG) recordings of biceps brachii muscles in patients with spastic cerebral palsy (CP). The maximal voluntary contraction (MVC) in the CP group was approximately one half of that of the normal group even after being normalized by the muscle ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Akataki K,Mita K,Itoh K,Suzuki N,Watakabe M

    更新日期:1996-10-01 00:00:00

  • Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.

    abstract:INTRODUCTION:UDP N-acetylglucosamine2-epimerase/N-acetylmannosamine-kinase (GNE) gene mutations can cause mostly autosomal-recessive myopathy with juvenile-onset known as hereditary inclusion-body myopathy (HIBM). METHODS:We describe a family of a patient showing an unusual HIBM with both vacuolar myopathy and myositi...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Chakravorty S,Berger K,Arafat D,Nallamilli BRR,Subramanian HP,Joseph S,Anderson ME,Campbell KP,Glass J,Gibson G,Hegde M

    更新日期:2019-07-01 00:00:00

  • The thoracic outlet syndromes.

    abstract::The term thoracic outlet syndrome (TOS) refers to a heterogeneous group of disorders, all of which have in common compression of one or more neurovascular elements at some point within the thoracic outlet. Of the five disorders comprising this group, four have all of the features expected of a syndrome-a recognized co...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审


    authors: Ferrante MA

    更新日期:2012-06-01 00:00:00

  • Involvement of PI3K/Akt/TOR pathway in stretch-induced hypertrophy of myotubes.

    abstract::Skeletal muscle cells are hypertrophied by mechanical stresses, but the underlying molecular mechanisms are not fully understood. Two signaling pathways, phosphatidylinositol 3-kinase (PI3K)/Akt to target of rapamycin (TOR) and extracellular signal-regulated kinase kinase (MEK) to extracellular signal-regulated kinase...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Sasai N,Agata N,Inoue-Miyazu M,Kawakami K,Kobayashi K,Sokabe M,Hayakawa K

    更新日期:2010-01-01 00:00:00

  • Isometric contractions of normal and spastic human skeletal muscle.

    abstract::Isometric contractile properties of human elbow flexor muscles were examined in 27 normal subjects (7 females and 20 males). Contractions of elbow flexors were elicited by application of electrical pulses to the biceps motor points. The tension development was recorded at the wrist with the elbow angle fixed at 90 deg...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Ismail HM,Ranatunga KW

    更新日期:1981-05-01 00:00:00

  • CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.

    abstract::As caveolin-3 deficiencies may explain persistent hyper-CK-emia, we performed CAV3 gene mutation analysis and immunohistochemistry for caveolin-3 in 31 patients with idiopathic hyper-CK-emia. In 2 of 29 patients who donated blood, variants in the CAV3 gene were detected. Although immunohistochemical analysis strongly ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Reijneveld JC,Ginjaar IB,Frankhuizen WS,Notermans NC

    更新日期:2006-11-01 00:00:00

  • Conduction and excitability properties of peripheral nerves in end-stage liver disease.

    abstract::The pathophysiology of hepatic neuropathy is poorly understood, but membrane depolarization due to a toxic inhibition of oxidative metabolism has been proposed. We investigated the relationship between nerve excitability properties, nerve dysfunction, and liver function in 11 pretransplant patients, the majority of wh...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Ng K,Lin CS,Murray NM,Burroughs AK,Bostock H

    更新日期:2007-06-01 00:00:00

  • Distal muscular dystrophy with autosomal recessive inheritance.

    abstract::Two sisters presented with distal weakness and their muscle biopsy was dystrophic. This distal muscular dystrophy has an autosomal recessive inheritance and its features are somewhat different from the more common autosomal dominant distal muscular dystrophy and include: a) onset in early adult life; b) involvement of...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Scoppetta C,Vaccario ML,Casali C,Di Trapani G,Mennuni G

    更新日期:1984-07-01 00:00:00

  • Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans.

    abstract::Calpain 3 (C3) is the only muscle-specific member of the calcium-dependent protease family. Although neither its physiological function nor its in vivo substrates are known, C3 must be an important protein for normal muscle function as mutations in the C3 gene result in limb-girdle muscular dystrophy type 2A. Previous...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Guyon JR,Kudryashova E,Potts A,Dalkilic I,Brosius MA,Thompson TG,Beckmann JS,Kunkel LM,Spencer MJ

    更新日期:2003-10-01 00:00:00

  • Late-onset X-linked recessive spinal and bulbar muscular atrophy.

    abstract::A family is described in which five males have late-onset facial weakness, dysarthria, dysphagia, and slowly progressive proximal weakness. Electrodiagnostic studies and muscle biopsy were compatible with spinal muscular atrophy. This family appears quite similar to several previously reported families with late-onset...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Ringel SP,Lava NS,Treihaft MM,Lubs ML,Lubs HA

    更新日期:1978-07-01 00:00:00

  • Diagnostic usefulness of denervation edema in the multifidus muscles using 3-Tesla magnetic resonance imaging in cervical radiculopathy.

    abstract:BACKGROUND:Diagnosing cervical radiculopathy (CR) can be difficult because of symptomatic overlap with peripheral neuropathies. In this retrospective observational study, we aimed to determine whether short-tau inversion recovery (STIR) magnetic resonance imaging (MRI) sequences are useful for detecting signs of denerv...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Yoshida T,Suwazono S,Sueyoshi T,Izumi Y,Nodera H

    更新日期:2020-12-13 00:00:00

  • Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.

    abstract::Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement. We s...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Luigetti M,Fabrizi GM,Madia F,Ferrarini M,Conte A,Delgrande A,Tonali PA,Sabatelli M

    更新日期:2010-09-01 00:00:00

  • Anodal sensory nerve action potentials: From physiological understanding to potential clinical applicability.

    abstract:INTRODUCTION:Low-intensity electrical stimuli of digital nerves may generate a double peak potential (DPp), composed of a cathodal (caAP) and an anodal (anAP) potential in orthodromic recordings. METHODS:We studied the effects on caAP and anAP of stimuli of variable intensity, duration, and frequency. We also applied ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Leote J,Pereira P,Cabib C,Cipullo F,Valls-Sole J

    更新日期:2016-06-01 00:00:00

  • Immunohistochemical characterization of human masseter muscle spindles.

    abstract::An enzyme- and immunohistochemical study has been performed on human masseter muscle spindles. Antibodies selective for different myosin heavy chain (MHC) isoforms and M-band proteins (M-protein, myomesin, and MM-CK) were used. The expression of these proteins was determined in the different intrafusal fiber types. Nu...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Eriksson PO,Butler-Browne GS,Thornell LE

    更新日期:1994-01-01 00:00:00

  • Clinical, physiological, and histological features in a kindred with the T3271C melas mutation.

    abstract::The majority of patients with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) have an A-->G mutation at nucleotide 3243 in mitochondrial transfer (t)RNA. To date there have only been 10 reported cases of MELAS syndrome in patients with a T-->C mutation at position 3271...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Tarnopolsky MA,Maguire J,Myint T,Applegarth D,Robinson BH

    更新日期:1998-01-01 00:00:00

  • Quantitative neuromuscular ultrasound in intensive care unit-acquired weakness: A systematic review.

    abstract::Intensive care unit-acquired weakness (ICU-AW) causes significant morbidity and impairment in critically ill patients. Recent advances in neuromuscular ultrasound (NMUS) allow evaluation of neuromuscular pathology early in critical illness. Here we review application of ultrasound in ICU-AW. MEDLINE-indexed articles w...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审


    authors: Bunnell A,Ney J,Gellhorn A,Hough CL

    更新日期:2015-11-01 00:00:00