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












  • Bcl-2 and bax immunohistochemistry in denervation-reinnervation and necrosis-regeneration of rat skeletal muscles.

    abstract::Bcl-2 and Bax immunohistochemistry was examined in the skeletal muscle of rats after cutting the sciatic nerve, as a model of denervation and reinnervation, and in the anterior tibialis muscle of rats after an intramuscular injection of metoclopramide, as a model of necrosis and regeneration of muscle fibers, to bette...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Olivé M,Ferrer I

    更新日期:2000-12-01 00:00:00

  • Contractile speed and fatigue of adductor pollicis muscle in multiple sclerosis.

    abstract::The purpose of the study was to investigate differences in contractile speed, force, and fatigability of the adductor pollicis muscle between 12 patients with multiple sclerosis (MS) and 8 sedentary control subjects matched for age and gender. There were no differences between the patients with MS and control subjects...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: de Ruiter CJ,Jongen PJ,van der Woude LH,de Haan A

    更新日期:2001-09-01 00:00:00

  • Adult human masseter muscle fibers express myosin isozymes characteristic of development.

    abstract::Masseter muscle biopsies were obtained from nine patients undergoing orthognatic surgery or surgery for parotid tumors. A detailed enzyme-histochemical and immunocytochemical study of these muscles was performed using antibodies specific to the various isozymes of the myosin heavy chain (MHC) in order to identify the ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


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

    更新日期:1988-06-01 00:00:00

  • Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name.

    abstract::This article describes a 37-year-old woman with progressive external ophthalmoplegia, peripheral neuropathy, and chronic intractable diarrhea. Laboratory studies disclosed lactic acidosis, ragged red fibers lacking cytochrome c oxidase, high-normal muscular mitochondrial enzymes, demyelinating neuropathy, leukoencepha...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Uncini A,Servidei S,Silvestri G,Manfredi G,Sabatelli M,Di Muzio A,Ricci E,Mirabella M,Di Mauro S,Tonali P

    更新日期:1994-06-01 00:00:00

  • Contribution of the Na(+)-K+ pump to membrane potential in familial periodic paralysis.

    abstract::The possibility has been raised that in familial periodic paralysis, the relatively large depolarization of the muscle fiber membrane seen during periods of paralysis might be attributable to a reduction in activity of the electrogenic Na(+)-K+ pump. The theoretical analysis presented here shows that although such hyp...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Martin AR,Levinson SR

    更新日期:1985-06-01 00:00:00

  • Muscle carnitine in hypo- and hyperthyroidism.

    abstract::Weakness is common in both hyper- and hypothyroidism, and skeletal muscle L-carnitine may play a role in this regard, as suggested by studies indicating abnormal levels of carnitine in serum and urine of patients with thyroid dysfunction. Skeletal muscle samples were obtained for carnitine analysis from control subjec...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Sinclair C,Gilchrist JM,Hennessey JV,Kandula M

    更新日期:2005-09-01 00:00:00

  • Myopathies featuring early or prominent dysphagia.

    abstract:BACKGROUND:Limited data exist regarding myopathies with early or prominent dysphagia. METHODS:A retrospective study was performed (January 2003 to August 2019) to identify myopathy patients in whom dysphagia was the initial symptom or was disproportionately severe compared with limb weakness. RESULTS:Thirty-two patie...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Triplett JD,Pinto MV,Hosfield EA,Milone M,Liewluck T

    更新日期:2020-09-01 00:00:00

  • Enlarged median nerve in idiopathic carpal tunnel syndrome.

    abstract::To delineate change in median nerve size in carpal tunnel syndrome (CTS), we compared ultrasonograms of nerve cross-sections from patients (201 wrists of 125 women with idiopathic CTS) and controls (200 dominant wrists of 200 women). Major and minor axes, cross-sectional area, and the flattening ratio (major axis/mino...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Nakamichi KI,Tachibana S

    更新日期:2000-11-01 00:00:00

  • Defective oxidative metabolism of myodystrophic skeletal muscle mitochondria.

    abstract::A small-scale procedure for preparing tightly coupled intact skeletal muscle mitochondria from myodystrophic (myd/myd) mice is described. Mitochondrial preparations derived from heart, liver, and skeletal muscle of myd/myd and their littermate (+/?) controls are characterized with respect to their cytochrome content a...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Lee CP,Martens ME,Jankulovska L,Neymark MA

    更新日期:1979-09-01 00:00:00

  • Utility of ultrasound-guided surface electrode placement in lateral femoral cutaneous nerve conduction studies.

    abstract:INTRODUCTION:Meralgia paresthetica is a common clinical complaint for which some patients ultimately undergo surgical treatment. The lateral femoral cutaneous nerve (LFCN) has been difficult to reliably test electrophysiologically, likely due to anatomic variability and lack of responses in asymptomatic obese subjects....

    journal_title:Muscle & nerve

    pub_type: 杂志文章,随机对照试验


    authors: Boon AJ,Bailey PW,Smith J,Sorenson EJ,Harper CM,Hurdle MF

    更新日期:2011-10-01 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

  • Patterns of clinical and electrodiagnostic abnormalities in early amyotrophic lateral sclerosis.

    abstract:INTRODUCTION:The distribution of clinical and neurophysiological abnormalities in patients with early amyotrophic lateral sclerosis (ALS) was investigated in an attempt to delineate patterns of disease spread. METHODS:Clinical and electrodiagnostic data were collected from 150 ALS patients and analyzed based on the cl...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Simon NG,Lomen-Hoerth C,Kiernan MC

    更新日期:2014-12-01 00:00:00

  • Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency.

    abstract:INTRODUCTION:Twenty-six patients with clinical symptoms of adult onset carnitine palmitoyltransferase II (CPTII) deficiency were examined. All patients had skeletal muscle CPTII enzyme activity levels indicative of heterozygosity for CPT2 mutations, however sequence analysis identified no pathogenic mutations within th...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Isackson PJ,Sutton KA,Hostetler KY,Vladutiu GD

    更新日期:2013-02-01 00:00:00

  • In situ decompression vs conservative treatment for mild ulnar neuropathy at the elbow.

    abstract:INTRODUCTION:The best treatment strategy for mild ulnar neuropathy at the elbow (UNE) is not known, due to lack of trials comparing surgery vs conservative treatment. METHODS:We recruited patients with clinical symptoms and signs of mild UNE and an electrophysiologically or sonographically confirmed diagnosis. Patient...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,随机对照试验


    authors: Pompe SM,Schreuder T,Teunissen LL,Visser LH,Beekman R

    更新日期:2020-08-01 00:00:00

  • Depression of involuntary activity in muscles paralyzed by spinal cord injury.

    abstract::Involuntary muscle contractions are common after spinal cord injury (SCI). Increased sensitivity to Ia muscle afferent input may contribute to the development of these spasms. Since tendon vibration results in a period of postactivation depression of the Ia synapse, we sought to determine whether Achilles tendon vibra...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Butler JE,Godfrey S,Thomas CK

    更新日期:2006-05-01 00:00:00

  • Management of end stage respiratory failure in Duchenne muscular dystrophy.

    abstract::There were 31 Duchenne patients placed on overnight mouth intermittent positive pressure ventilation for severe respiratory insufficiency at the average age of 19.9 years. Most patients had vital capacities less than 200 cc at their last evaluations. Of these, 23 patients are alive at the average age of 27 years and l...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Bach JR,O'Brien J,Krotenberg R,Alba AS

    更新日期:1987-02-01 00:00:00

  • Cardiac repolarization abnormalities in multiple sclerosis: spinal cord MRI correlates.

    abstract::Ventricular repolarization dysfunction has recently been reported in multiple sclerosis (MS). We evaluated ventricular repolarization dysfunction in 52 MS patients and looked for a relationship between corrected QT (QTc) abnormalities (i.e., abnormalities of QT intervals corrected for rate) and spinal cord magnetic re...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: de Seze J,Stojkovic T,Gauvrit JY,Saint Michel T,Ayachi M,Pruvo JP,Vermersch P

    更新日期:2000-08-01 00:00:00

  • Glycerophospholipid profile alterations are associated with murine muscle-wasting phenotype.

    abstract:INTRODUCTION:Phospholipids are essential components of cellular membranes and are closely associated with cellular functions, but relationships involving skeletal muscle phospholipid profiles and their physiological phenotypes have remained unclear. METHODS:We carried out comprehensive phospholipid analyses using liqu...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Senoo N,Miyoshi N,Kobayashi E,Morita A,Tanihata J,Takeda S,Miura S

    更新日期:2020-09-01 00:00:00

  • Impact of denervation-induced muscle atrophy on housekeeping gene expression in mice.

    abstract:INTRODUCTION:Immobilization induced by experimental denervation leads to rapid and progressive alterations in structural and biochemical properties of skeletal muscle. Real-time reverse transcription-polymerase chain reaction (RT-PCR) is a popular method of elucidating the molecular mechanisms involved in muscle atroph...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Nakao R,Yamamoto S,Yasumoto Y,Kadota K,Oishi K

    更新日期:2015-02-01 00:00:00

  • The effect of fatigue on knee position sense is not dependent upon the muscle group fatigued.

    abstract:INTRODUCTION:Muscle fatigue could have a greater impact on position sense when antagonists of the movement are fatigued. Hence, this study aimed to compare the effects of antagonist and agonist exercise-induced muscle fatigue on knee joint position sense. METHODS:This within-subjects repeated-measures study included 4...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Ribeiro F,Venâncio J,Quintas P,Oliveira J

    更新日期:2011-08-01 00:00:00

  • Prognostic factors in carpal tunnel syndrome treated with a corticosteroid injection.

    abstract:INTRODUCTION:Symptoms often return in patients with carpal tunnel syndrome (CTS) who are treated with a local corticosteroid injection. We aimed to determine prognostic factors for a successful long-term outcome. METHODS:We prospectively followed 113 patients who received an injection for CTS. Clinical, electrophysiol...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Meys V,Thissen S,Rozeman S,Beekman R

    更新日期:2011-11-01 00:00:00

  • Impaired calcium signaling in muscle fibers from intercostal and foot skeletal muscle in a cigarette smoke-induced mouse model of COPD.

    abstract:INTRODUCTION:Respiratory and locomotor skeletal muscle dysfunction are common findings in chronic obstructive pulmonary disease (COPD); however, the mechanisms that cause muscle impairment in COPD are unclear. Because Ca2+ signaling in excitation-contraction (E-C) coupling is important for muscle activity, we hypothesi...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Robison P,Sussan TE,Chen H,Biswal S,Schneider MF,Hernández-Ochoa EO

    更新日期:2017-08-01 00:00:00

  • Pain in patients with myotonic dystrophy type 2: a postal survey in Finland.

    abstract:INTRODUCTION:Widespread musculoskeletal pain is a well-known symptom of myotonic dystrophy type 2 (DM2), but so far it has been addressed in only a few studies. METHODS:A postal survey for all traceable DM2 patients (n = 132) was conducted. A specific questionnaire, and severity and interference subscales of the Brief...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Suokas KI,Haanpää M,Kautiainen H,Udd B,Hietaharju AJ

    更新日期:2012-01-01 00:00:00

  • Positive sharp wave origin: evidence supporting the electrode initiation hypothesis.

    abstract::This investigation analyzes the temporal characteristics of maximal depolarization times for three waveforms: end-plate spikes, fibrillation potentials, and positive sharp waves (PSWs) to provide support for the electrode initiation hypothesis of PSW induction. The maximal depolarization times for PSWs are documented ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Dumitru D,Santa Maria DL

    更新日期:2007-09-01 00:00:00

  • Modification of the peripheral nerve disturbance in ciguatera poisoning in rats with lidocaine.

    abstract::Electrophysiological studies were performed on the ventral tail nerve of adult rats following intraperitoneal injection of a crude extract of ciguatoxin from known toxic fish flesh. Ciguatoxin induced significant slowing of both mixed and motor nerve conduction velocities and also significant reductions in both motor ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Cameron J,Flowers AE,Capra MF

    更新日期:1993-07-01 00:00:00

  • Abductor hallucis false motor points: electrophysiologic mapping and cadaveric dissection.

    abstract::False motor points (FMPs) can occur in intrinsic foot or hand muscles, causing spuriously prolonged distal motor latencies by misrepresenting the compound muscle action potential (CMAP) onset. We investigated the motor point (MP) and possible FMPs in abductor hallucis (AH) by three methods: (1) electrophysiologic mapp...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Del Toro DR,Park TA

    更新日期:1996-09-01 00:00:00

  • Peripheral neuropathy in glycogen storage disease type III: Fact or myth?

    abstract:INTRODUCTION:The aim of this study was to assess whether peripheral neuropathy is a feature of glycogen storage disease type IIIa (GSD IIIa) in adult patients. METHODS:Medical records of a cohort of adult GSD IIIa patients who underwent electromyography (EMG) and nerve conduction studies (NCS) were reviewed, and the r...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Herlin B,Laforět P,Labrune P,Fournier E,Stojkovic T

    更新日期:2016-02-01 00:00:00

  • Developing normalized strength scores for neuromuscular research.

    abstract:INTRODUCTION:The Accurate Test of Limb Isometric Strength (ATLIS) device can reliably measure the strength of 12 muscle groups using a fixed load cell. The purpose of this study was to analyze ATLIS data from healthy adults to calculate an individual's predicted strength scores. METHODS:ATLIS data were collected from ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Andres PL,English R,Mendoza M,Florence J,Malkus E,Schierbecker J,Siener C,Malspeis S,Schoenfeld DA,Munsat TL,Cudkowicz ME

    更新日期:2013-02-01 00:00:00

  • Thymectomy may not be associated with clinical improvement in MuSK myasthenia gravis.

    abstract:INTRODUCTION:A randomized trial demonstrated benefit from thymectomy in nonthymomatous acetylcholine receptor (AChR)-antibody positive myasthenia gravis (MG). Uncontrolled observational and histologic studies suggest thymectomy may not be efficacious in anti-muscle-specific kinase (MuSK)-MG. METHODS:The therapeutic im...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,多中心研究


    authors: Clifford KM,Hobson-Webb LD,Benatar M,Burns TM,Barnett C,Silvestri NJ,Howard JF Jr,Visser A,Crum BA,Nowak R,Beekman R,Kumar A,Ruzhansky K,Chen IA,Pulley MT,Laboy SM,Fellman MA,Howard DB,Kolb NA,Greene SM,Pasnoor M

    更新日期:2019-04-01 00:00:00

  • Yields of muscle from myogenic cells implanted into young and old mdx hosts.

    abstract::Implantation of normal muscle precursor cells (mpc) for treatment for inherited myopathies such as Duchenne muscular dystrophy is in clear need of improvement to become practicable, but few variables have been studied comparatively. Here, we report the first quantitative estimate of the effectiveness of implanting mpc...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Morgan JE,Fletcher RM,Partridge TA

    更新日期:1996-02-01 00:00:00