Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity

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  • CLINICAL REPORT

    Satoyoshi Syndrome With Unusual SkeletalAbnormalities and Parental ConsanguinityC.A. Venegas-Vega,1* M.R. Rivera-Vega,1 S. Cuevas-Covarrubias,1 J. Orozco,2 and S. Kofman-Alfaro1

    1Department of Human Genetics, Facultad de Medicina, Hospital General de Mexico, UNAM, Mexico City, Mexico2Department of Neurology, Hospital General de Mexico, Mexico City, Mexico

    Received 19 March 2008; Accepted 2 January 2009

    Satoyoshi syndrome (SS) (OMIM 600705) is a rare multisystemic

    disorder of unknown etiology characterized by progressive pain-

    ful intermittent muscle spasm, alopecia universalis, diarrhea,

    short stature, amenorrhea, and secondary skeletal abnormalities

    mimicking a metaphyseal chondrodysplasia. To date all reported

    cases have been sporadic. We describe a 26-year-old Mexican

    woman, a product of consanguineous parents with clinical

    characteristics of SS. Our patient, also showed skeletal

    anomalies not previously reported that seems to be a coincidental

    finding. 2009 Wiley-Liss, Inc.

    Key words: Satoyoshi syndrome; muscle spasm; alopecia; amen-orrhea; short stature; skeletal abnormalities; parental consanguinity

    INTRODUCTION

    Satoyoshi syndrome (SS) (OMIM 600705) is a rare disorder of

    unknown etiology. Progressive painful intermittent muscle spasm,

    alopecia universalis, and diarrhea are the three cardinal symptoms.

    Other clinical findings include, short stature, skeletal anomalies,

    and amenorrhea [Satoyoshi and Yamada, 1967; Satoyoshi, 1978;

    Ehlayel and Lacassie, 1995; Ikeda et al., 1998]. To date approxi-

    mately 50 cases have been reported in different ethnic groups

    [Merello et al., 1994; Ehlayel and Lacassie, 1995; Cecchin et al.,

    2003; Ashalatha et al., 2004]. SS is a sporadic condition more

    common in women than in men. Although several reports

    have proposed an autoimmune mechanism, the pathogenesis of

    SS remains unknown [Satoh et al., 1983; Yamagata et al., 1991]. In

    this article, we describe the first Mexican patient with clinical data of

    SS and several skeletal alterations and parental consanguinity not

    previously reported.

    CLINICAL REPORT

    The patient was a 26-year-old Mexican female referred to the

    Genetic Department of the General Hospital of Mexico by alopecia,

    short stature, muscle spasm, and amenorrhea. She was the product

    of healthy, young, and consanguineous parents (Fig. 1). Family

    history of the disorder was negative. Her growth, development, and

    behavior were normal until 6 years of age, when she presented hair

    loss on the scalp, eyebrows and eyelashes, and delayed growth. One

    year later she began with recurrent painful cramps in feet and calves.

    Menarche began at age 12 with oligomenorrhea, and at 16 years old

    presented amenorrhea. On clinical examination at age of 26 years,

    she is an intelligent woman with height 120 cm (centile

  • anti-GAD, rheumatoid factor, VDRL, and thyroid antibody were

    negative. Antinuclear antibody was positive at 1:100 with speckled

    pattern. No cytogenetic abnormalities were observed in the prom-

    etaphase chromosomal study. Electromyographic studies demon-

    strated large action potential and nerve conduction velocity showed

    possible mix injury of sensitive-motor type.

    X-rays disclose brachymetacarpism with mushroom ap-

    pearance, short phalanges with moderate apical narrowing, short

    metatarsals with mushroom appearance and apical narrowing.

    Iliac wings and mild genu valgus (Fig. 2C). No spine anomalies,

    fractures, cystic lesions, or slippage of the epiphyses were

    observed. Pelvic ultrasound showed hypoplastic uterus and ovaries.

    At age of 21 she started on a combination of tetrazepam 50 mg

    and carbamazepine 300 mg per day. After 1 month of management,

    she showed a diminution in the severity and frequency of the

    spasms. Between 21 and 26 years old, she had few episodes of the

    FIG. 2. A: Frontal and occipital views of patient demonstrating facial appearance and baldness. B: Proportionate short stature and hypertrophic

    muscles of lower limbs are noted. C: X-ray hand and feet. Observed, shortness of all metacarpals (more severe third and fourth), metatarsals, and

    phalanges (principally, in the first telephalanges). [Color figure can be viewed in the online issue, which is available at www.interscience.wiley.com.]

    FIG. 1. Family pedigree.

    VENEGAS-VEGA ET AL. 2449

  • cramps (two or three each year) with no other additional

    symptoms.

    DISCUSSION

    SS (OMIM 600705) is a disorder with multisystem involvements

    [Satoyoshi, 1978; Ehlayel and Lacassie, 1995]. Patients with SS are

    normal at birth and the characteristic phenotype usually appears

    later [Ehlayel and Lacassie, 1995]. The typical age of onset is before

    15 years old; however, three adult onset cases have been reported

    [Merello et al., 1994; Tajima et al., 1994; Ikeda et al., 1998].

    Muscle spasm is the initial symptom in nearly all cases and

    usually starts between the ages of 4 and 19 years [Satoyoshi, 1978;

    Satoh et al., 1983; Ikegawa et al., 1993a]. It was proposed that spasms

    could be consequence of hyperactivity or a disinhibition at the alpha

    motor neuron level [Satoyoshi, 1978; Merello et al., 1994; Drost

    et al., 2006]. Alopecia universalis usually starts between the ages of

    6 and 21 years [Satoyoshi, 1978; Satoh et al., 1983; Wisuthsarewong

    et al., 2001]. Our patient had hair loss before spasms and muscle

    hypertrophy as has been observed [Satoyoshi, 1978; Kuru et al.,

    1992; Tajima et al., 1994; Ehlayel and Lacassie, 1995; Wisuthsar-

    ewong et al., 2001; Cecchin et al., 2003]. Laboratory results were

    similar to those previously described [Satoyoshi, 1978; Yamagata

    et al., 1991; Ikegawa et al., 1993a; Ehlayel and Lacassie, 1995;

    Ikeda et al., 1998; Wisuthsarewong et al., 2001; Endo et al., 2003;

    Kamat et al., 2003].

    The most striking skeletal-radiological findings include slipping

    of multiple epiphyses, cystic lesions of metaphyses, acro-osteolysis,

    early osteoarthrosis, bone fragmentation at tendinous insertions,

    fatigue fractures, and residual joint deformity [Matsuo et al., 1983;

    Satoh et al., 1983; Ikegawa et al., 1993a,b; Haymon et al., 1997].

    However, in our patient an extensive radiology evaluation ruled out

    these alterations. Other orthopedic features, frequent in SS, such as

    genu valgus and pes planus [Satoyoshi, 1978], were also observed.

    Satoyoshi [1978] reported a correlation between the severity of the

    spasms and the skeletal changes and deformities. When cramps

    begin before age 12, mild growth retardation and joint deformities

    are the most striking features [Satoyoshi, 1978; Ikegawa et al.,

    1993b]. In our case onset of cramps was at 7 years, conversely to

    previous reports our patient presented severe short stature, and the

    distributions of bone malformations did not correspond to spasms.

    Although several differential diagnoses exist with these skeletal

    alterations; such as cartilage-hair hypoplasia syndrome (OMIM

    250250), spondyloepimetaphyseal dysplasia with hypotrichosis

    (OMIM 183849), and brachydactyly-mental retardation syndrome

    (OMIM 600430); the clinical, laboratory, and radiological findings

    in our patient ruled out these conditions. However, based on the

    radiological findings, it is not possible to establish a specific

    diagnosis. We also consider that skeletal symptoms are completely

    unrelated to the SS, and that the co-occurrence is just coincidence.

    The association with different autoimmune disorders or immu-

    nological alterations [Satoyoshi, 1978; Satoh et al., 1983; Yamagata

    et al., 1991] and the response of some symptoms to glucorticoids

    treatment [Yamagata et al., 1991; Kuru et al., 1992; Ehlayel and

    Lacassie, 1995; Oyama et al., 1999] suggests that the autoimmunity

    plays an important role in the pathogenesis of SS. Nevertheless,

    there is no direct evidence to support an autoimmune hypothesis

    [Ikeda et al., 1998]. Although all cases have been sporadic, in our

    case parental consanguinity could suggest an autosomal recessive

    pattern; however, this could be only a co-incidental finding. In

    conclusion, we reported the first Mexican patient with SS. Consid-

    ered careful long-term follow-up of the radiological and orthopedic

    features is mandatory in these patients. Additional reports are

    required in order to define the full phenotype spectrum and genetic

    basis of this condition.

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    Cecchin CR, Felix TM, Magalhaes RB, Furlanetto TW. 2003. Satoyoshisyndrome in a Caucasian girl improved with glucocorticoids. Am J MedGenet Part A 118A:5254.

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    2450 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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    VENEGAS-VEGA ET AL. 2451

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