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
Received 24 October 2010
Received in revised form
12 March 2011
Accepted 22 June 2011
Published online 17 November 2011
Transcraneal magnetic stimulation
Paired pulses paradigm
Mots cles :
Syndrome de Satoyoshi
maladie de Komuragaeri
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
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.
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).