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Satoyoshi's syndrome related muscle spasms: Functional study

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  • Brief communication

    Satoyoshis syndrome related muscle spasms: Functional study

    Spasmes musculaires en rapport avec un syndrome de Satoyoshi :etude fonctionnelle

    J.M. Pardal-Fernandez a,*, J. Solera-Santos b, I. Iniesta-Lopez c, M. Rodrguez-Vazquez d

    aClinical Neurophysiologist, School of Medicine, UCLM, Unit of clinical electromyography, Department of Neurophysiology, University General

    Hospital, c/Hermanos Falco s/n, 02006, Albacete, SpainbDepartement of Internal Medicine, School of Medicine, UCLM, Chief of Department of Internal Medicine, University General Hospital,

    c/Hermanos Falco s/n, 02006, Albacete, SpaincDepartment of Neurology, The Walton Centre NHS Foundation Trust, University General Hospital, Lower Lane, Liverpool, Merseyside L9 7LJ,

    United KingdomdDepartment of Dermatology, University General Hospital, c/Hermanos Falco s/n, 02006, Albacete, Spain

    r e v u e n e u r o l o g i q u e 1 6 8 ( 2 0 1 2 ) 2 9 1 2 9 5

    i n f o a r t i c l e

    Article history:

    Received 24 October 2010

    Received in revised form

    12 March 2011

    Accepted 22 June 2011

    Published online 17 November 2011

    Keywords :

    Satoyoshi syndrome

    Komuragaeri disease

    Muscular spasm

    Transcraneal magnetic stimulation


    Paired pulses paradigm

    Mots cles :

    Syndrome de Satoyoshi

    maladie de Komuragaeri

    Spasme musculaire

    Stimulation magnetique


    Reflexe H

    Paradigme des impulsions appariees

    a b s t r a c t

    Satoyoshi syndrome is a rare disease presumed to be immunologically mediated, charac-

    terized by muscle spasms, alopecia and diarrhea. We describe the case of a female in whom

    the muscle spasms were the predominant feature and we analyze the changes in cortical

    and in spinal excitability under the paired pulses paradigm. Hyperexcitability was present in

    the H-reflex study, thus suggesting that the spinal cord is the structure most likely

    responsible for the spasms. This is the first reported case in Spain.

    # 2011 Elsevier Masson SAS. All rights reserved.

    r e s u m e

    Le syndrome de Sataoyoshi est une maladie rare probablement dorigine immunologique

    caracterisee par des spasmes musculaires, une alopecie et une diarrhee. Nous presentons un

    nouveau cas chez une femme souffrant de spasmes musculaires comme symptomatologie

    principale. Nous avons analyse lexcitabilite corticale et spinale utilisant le paradigme des

    impulsions appariees. Dapres lhyperexcitabilite observee lors de letude du reflexe H, une

    dysfonction medullaire est probablement a lorigine des spasmes musculaires. Cela est le

    premier cas espagnol.

    # 2011 Elsevier Masson SAS. Tous droits reserves.

    * Corresponding author.

    Available online at

    www.sciencedirect.comE-mail address : [email protected] (J.M. Pardal-Fernandez).

    0035-3787/$ see front matter # 2011 Elsevier Masson SAS. Tous droits reserves.doi:10.1016/j.neurol.2011.06.004[email protected]://

  • r e v u e n e u r o l o g i q u e 1 6 8 ( 2 0 1 2 ) 2 9 1 2 9 5292Fig. 1 Graphic of magnetic transcraneal stimulation

    results. X-axis: conditioned responses; ISIs (interstimul

    interval), milliseconds (ms). Y-axis: amplitude (mV) of

    unconditioned and conditioned responses.

    Resultats de la stimulation magnetique transcranienne.

    Abscisses : reponses conditionnees ; ISIs (interstimul interval),

    millisecondes (ms). Ordonnees : amplitude (mV) des reponses

    conditionnees et non conditionnees.1. Introduction

    Satoyoshi syndrome (SS), also known as Komuragaeri

    disease, is a rare progressive multisystemic disease of unknown

    etiology presumed to be immunologically mediated. SS is

    characterized (Satoyoshi and Yamada, 1967; Satoyoshi, 1978,

    Ikeda et al., 1998) by painful muscle spasms (MS), alopecia,

    diarrhea, endocrinopathy with amenorrhea, skeletal abnorma-

    lities and autoimmune diseases (Satoh et al., 1983; Yamagata

    et al., 1991). However, the pathophysiological basis of SS related

    MS remains unknown. MS can interfere significantly and even

    be disabling when severe. Clinical as well as neurophysiological

    findings suggest that MS originate from the central nervous

    system, more likely from spinal cord (Kujirai et al., 1993). In this

    paper, we describe the first Spanish case reported yet of SS, and

    study the cortical and spinal excitability in an attempt to

    understand the underlying mechanisms.

    2. Case report

    A 19-year-old Caucasian woman with no relevant family

    history was referred to us for severe MS. She had previously

    been diagnosed with SS based on her alopecia, diarrhea,

    developmental delay (weight 38 kg, height 140 cm, BMI

    19.3 kg/m2), skeletal abnormalities, amenorrhea and MS,

    and had previously been unsuccessfully tried on gabapentin

    and carbamazepine. MS involved the thorax, the back and all

    four limbs, in a bilateral asymmetric way, and were signifi-

    cantly interfering with her daily activities. They were triggered

    by stress or exercise and improved after several hours of

    bedtime rest. MRI of the CNS axis as well as a full cell count,

    biochemistry profile and microbiological investigations in

    both, plasma and CSF, were unremarkable.

    Serum antiglutamate decarboxilase antibodies (anti-GAD)

    were tested seven times before and after treatment. Values

    ranged from 0.1 to 1.11 U/mL. In only one instance were they

    found weakly positive prior to treatment (1.11 U/mL for a

    reference range of less than 0.9 U/mL). Acetylcholine receptor

    antibodies (Anti-Ach) were determined 5 times, testing

    positive in all between 6.82 and 11.5 nmol/L (reference range

    less than 0.15). However, no clinical or neurophysiological

    evidence to support a diagnosis of myasthenia gravis was

    found. Serum antinuclear antibodies (ANA), anti-Ro, anti-La,

    anti-Jo, anti-RNP, anti-Sm, anti-Scl79, anti parietal cell anti-

    bodies, anti-IgG and anti-GM1 were all negative.

    3. Materials and methods

    Nerve conduction studies (NCS) and needle electromyogram

    (EMG) were carried out on the lower limbs. Transcraneal

    magnetic stimulation (TMS) over the motor cortex with single

    and paired pulses (PP) (Ridding et al., 1995; Ziemann et al.,

    1996) was also undertaken and the H-Reflex recovery curve

    (HRrc) (Panizza et al., 1990; Aminoff, 1998), were both recorded

    from the soleus muscle. The EMG background noise was

    monitored by acoustic feedback. All the exams took place in a

    quiet, relaxing environment in penumbra with the patient in asupine position. Motor evoked potentials (MEPs) were ampli-

    fied using a SynergyR electromyograph (CareFusion Co. USA).

    Magnetic shocks were delivered with a Magstim 200 stimu-

    lator (the Magstim Co. Ltd, UK). TMS was performed with a

    circular coil on the scalp two centimetres anterior to the vertex

    (the center over it), which corresponded to the primary motor

    area of the soleus muscle. The intracortical inhibition (ICI) and

    intracortical facilitation (ICF) were delivered in accordance

    with the PP paradigm, in which two magnetic stimulators are

    connected through a Bistim module. The intervals between

    the stimuli (ISI) were 1, 2, 4, 15, 20 and 25 ms. For each ISI, eight

    responses were recorded. The HRrc obtained for ISIs were 30,

    60, 70, 100, 120, 200, 300, 400, 500 and 1000 ms. Amplitude of

    the conditioned MEPs recorded at each ISI was averaged.

    These values were compared to the amplitude of unconditio-

    ned MEPs (including percentage). At least, six consecutive

    recordings, taken 10 s apart, were done for each interval, with

    no changes of amplitude left to chance.

    4. Results

    Single pulse MTS, NCS and EMG were all found to be normal.

    Cortical excitability tests and HRrc results are highlighted on

    Fig. 1. HRrc studies revealed a significant absence of inhibition

    with ISI above 250 ms (Figs. 1, 2 and 3) and less pronounced

    with ISIs 50 to 70 ms. At follow up within the first few months

    of sustained immunosupression, with prednisone 40 mg per

    day and methotrexate 7.5 mg per week, no changes were seen,

    despite reducing the frequency and the intensity of the MS. A

    considerable clinical improvement was seen after a year of

    ongoing treatment, while the HRs were normalized (Fig. 1).

  • Fig. 2 Graphic of H-Reflex results. X-axis: conditioned

    responses; ISIs (interstimul interval), miliseconds (ms).

    Y-axis: amplitude (mV) of unconditioned and conditioned


    Resultats de letude du reflexe H. Abscisses : reponses

    conditionnees ; ISIs (interstimul interval), millisecondes (ms).

    Ordonnees : amplitude (mV) des reponses conditionnees et non


    r e v u e n e u r o l o g i q u e 1 6 8 ( 2 0 1 2 ) 2 9 1 2 9 5 293Conditioned responses measuring the inhibitory SICI (1/

    4 ms) interval as well as the facilitator ICF (720 ms) interval in

    MTS studies prior to and after treatment where all found to be

    normal. MEP amplitude in relation to the responses in the pre-

    and post-treatment MTS studies, the conditioned responses

    for the inhibitory interval SICI (14 ms), and the facilitator ICF

    (720 ms) interval were all normal. MEP amplitudes in relation

    to the unconditioned response did