Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity

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<ul><li><p>CLINICAL REPORT</p><p>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</p><p>1Department of Human Genetics, Facultad de Medicina, Hospital General de Mexico, UNAM, Mexico City, Mexico2Department of Neurology, Hospital General de Mexico, Mexico City, Mexico</p><p>Received 19 March 2008; Accepted 2 January 2009</p><p>Satoyoshi syndrome (SS) (OMIM 600705) is a rare multisystemic</p><p>disorder of unknown etiology characterized by progressive pain-</p><p>ful intermittent muscle spasm, alopecia universalis, diarrhea,</p><p>short stature, amenorrhea, and secondary skeletal abnormalities</p><p>mimicking a metaphyseal chondrodysplasia. To date all reported</p><p>cases have been sporadic. We describe a 26-year-old Mexican</p><p>woman, a product of consanguineous parents with clinical</p><p>characteristics of SS. Our patient, also showed skeletal</p><p>anomalies not previously reported that seems to be a coincidental</p><p>finding. 2009 Wiley-Liss, Inc.</p><p>Key words: Satoyoshi syndrome; muscle spasm; alopecia; amen-orrhea; short stature; skeletal abnormalities; parental consanguinity</p><p>INTRODUCTION</p><p>Satoyoshi syndrome (SS) (OMIM 600705) is a rare disorder of</p><p>unknown etiology. Progressive painful intermittent muscle spasm,</p><p>alopecia universalis, and diarrhea are the three cardinal symptoms.</p><p>Other clinical findings include, short stature, skeletal anomalies,</p><p>and amenorrhea [Satoyoshi and Yamada, 1967; Satoyoshi, 1978;</p><p>Ehlayel and Lacassie, 1995; Ikeda et al., 1998]. To date approxi-</p><p>mately 50 cases have been reported in different ethnic groups</p><p>[Merello et al., 1994; Ehlayel and Lacassie, 1995; Cecchin et al.,</p><p>2003; Ashalatha et al., 2004]. SS is a sporadic condition more</p><p>common in women than in men. Although several reports</p><p>have proposed an autoimmune mechanism, the pathogenesis of</p><p>SS remains unknown [Satoh et al., 1983; Yamagata et al., 1991]. In</p><p>this article, we describe the first Mexican patient with clinical data of</p><p>SS and several skeletal alterations and parental consanguinity not</p><p>previously reported.</p><p>CLINICAL REPORT</p><p>The patient was a 26-year-old Mexican female referred to the</p><p>Genetic Department of the General Hospital of Mexico by alopecia,</p><p>short stature, muscle spasm, and amenorrhea. She was the product</p><p>of healthy, young, and consanguineous parents (Fig. 1). Family</p><p>history of the disorder was negative. Her growth, development, and</p><p>behavior were normal until 6 years of age, when she presented hair</p><p>loss on the scalp, eyebrows and eyelashes, and delayed growth. One</p><p>year later she began with recurrent painful cramps in feet and calves.</p><p>Menarche began at age 12 with oligomenorrhea, and at 16 years old</p><p>presented amenorrhea. On clinical examination at age of 26 years,</p><p>she is an intelligent woman with height 120 cm (centile</p></li><li><p>anti-GAD, rheumatoid factor, VDRL, and thyroid antibody were</p><p>negative. Antinuclear antibody was positive at 1:100 with speckled</p><p>pattern. No cytogenetic abnormalities were observed in the prom-</p><p>etaphase chromosomal study. Electromyographic studies demon-</p><p>strated large action potential and nerve conduction velocity showed</p><p>possible mix injury of sensitive-motor type.</p><p>X-rays disclose brachymetacarpism with mushroom ap-</p><p>pearance, short phalanges with moderate apical narrowing, short</p><p>metatarsals with mushroom appearance and apical narrowing.</p><p>Iliac wings and mild genu valgus (Fig. 2C). No spine anomalies,</p><p>fractures, cystic lesions, or slippage of the epiphyses were</p><p>observed. Pelvic ultrasound showed hypoplastic uterus and ovaries.</p><p>At age of 21 she started on a combination of tetrazepam 50 mg</p><p>and carbamazepine 300 mg per day. After 1 month of management,</p><p>she showed a diminution in the severity and frequency of the</p><p>spasms. Between 21 and 26 years old, she had few episodes of the</p><p>FIG. 2. A: Frontal and occipital views of patient demonstrating facial appearance and baldness. B: Proportionate short stature and hypertrophic</p><p>muscles of lower limbs are noted. C: X-ray hand and feet. Observed, shortness of all metacarpals (more severe third and fourth), metatarsals, and</p><p>phalanges (principally, in the first telephalanges). [Color figure can be viewed in the online issue, which is available at www.interscience.wiley.com.]</p><p>FIG. 1. Family pedigree.</p><p>VENEGAS-VEGA ET AL. 2449</p></li><li><p>cramps (two or three each year) with no other additional</p><p>symptoms.</p><p>DISCUSSION</p><p>SS (OMIM 600705) is a disorder with multisystem involvements</p><p>[Satoyoshi, 1978; Ehlayel and Lacassie, 1995]. Patients with SS are</p><p>normal at birth and the characteristic phenotype usually appears</p><p>later [Ehlayel and Lacassie, 1995]. The typical age of onset is before</p><p>15 years old; however, three adult onset cases have been reported</p><p>[Merello et al., 1994; Tajima et al., 1994; Ikeda et al., 1998].</p><p>Muscle spasm is the initial symptom in nearly all cases and</p><p>usually starts between the ages of 4 and 19 years [Satoyoshi, 1978;</p><p>Satoh et al., 1983; Ikegawa et al., 1993a]. It was proposed that spasms</p><p>could be consequence of hyperactivity or a disinhibition at the alpha</p><p>motor neuron level [Satoyoshi, 1978; Merello et al., 1994; Drost</p><p>et al., 2006]. Alopecia universalis usually starts between the ages of</p><p>6 and 21 years [Satoyoshi, 1978; Satoh et al., 1983; Wisuthsarewong</p><p>et al., 2001]. Our patient had hair loss before spasms and muscle</p><p>hypertrophy as has been observed [Satoyoshi, 1978; Kuru et al.,</p><p>1992; Tajima et al., 1994; Ehlayel and Lacassie, 1995; Wisuthsar-</p><p>ewong et al., 2001; Cecchin et al., 2003]. Laboratory results were</p><p>similar to those previously described [Satoyoshi, 1978; Yamagata</p><p>et al., 1991; Ikegawa et al., 1993a; Ehlayel and Lacassie, 1995;</p><p>Ikeda et al., 1998; Wisuthsarewong et al., 2001; Endo et al., 2003;</p><p>Kamat et al., 2003].</p><p>The most striking skeletal-radiological findings include slipping</p><p>of multiple epiphyses, cystic lesions of metaphyses, acro-osteolysis,</p><p>early osteoarthrosis, bone fragmentation at tendinous insertions,</p><p>fatigue fractures, and residual joint deformity [Matsuo et al., 1983;</p><p>Satoh et al., 1983; Ikegawa et al., 1993a,b; Haymon et al., 1997].</p><p>However, in our patient an extensive radiology evaluation ruled out</p><p>these alterations. Other orthopedic features, frequent in SS, such as</p><p>genu valgus and pes planus [Satoyoshi, 1978], were also observed.</p><p>Satoyoshi [1978] reported a correlation between the severity of the</p><p>spasms and the skeletal changes and deformities. When cramps</p><p>begin before age 12, mild growth retardation and joint deformities</p><p>are the most striking features [Satoyoshi, 1978; Ikegawa et al.,</p><p>1993b]. In our case onset of cramps was at 7 years, conversely to</p><p>previous reports our patient presented severe short stature, and the</p><p>distributions of bone malformations did not correspond to spasms.</p><p>Although several differential diagnoses exist with these skeletal</p><p>alterations; such as cartilage-hair hypoplasia syndrome (OMIM</p><p>250250), spondyloepimetaphyseal dysplasia with hypotrichosis</p><p>(OMIM 183849), and brachydactyly-mental retardation syndrome</p><p>(OMIM 600430); the clinical, laboratory, and radiological findings</p><p>in our patient ruled out these conditions. However, based on the</p><p>radiological findings, it is not possible to establish a specific</p><p>diagnosis. We also consider that skeletal symptoms are completely</p><p>unrelated to the SS, and that the co-occurrence is just coincidence.</p><p>The association with different autoimmune disorders or immu-</p><p>nological alterations [Satoyoshi, 1978; Satoh et al., 1983; Yamagata</p><p>et al., 1991] and the response of some symptoms to glucorticoids</p><p>treatment [Yamagata et al., 1991; Kuru et al., 1992; Ehlayel and</p><p>Lacassie, 1995; Oyama et al., 1999] suggests that the autoimmunity</p><p>plays an important role in the pathogenesis of SS. Nevertheless,</p><p>there is no direct evidence to support an autoimmune hypothesis</p><p>[Ikeda et al., 1998]. Although all cases have been sporadic, in our</p><p>case parental consanguinity could suggest an autosomal recessive</p><p>pattern; however, this could be only a co-incidental finding. In</p><p>conclusion, we reported the first Mexican patient with SS. Consid-</p><p>ered careful long-term follow-up of the radiological and orthopedic</p><p>features is mandatory in these patients. Additional reports are</p><p>required in order to define the full phenotype spectrum and genetic</p><p>basis of this condition.</p><p>REFERENCES</p><p>Ashalatha R, Kishore A, Sarada C, Nair MD. 2004. Satoyoshi syndrome.Neurol India 52:9495.</p><p>Cecchin CR, Felix TM, Magalhaes RB, Furlanetto TW. 2003. Satoyoshisyndrome in a Caucasian girl improved with glucocorticoids. Am J MedGenet Part A 118A:5254.</p><p>Drost G, Verrips A, van Engelen B, Stegeman D, Zwarts M. 2006.Involuntary painful muscle contractions in Satoyoshi syndrome:A surface electromyographic study. Mov Disord 11:20152018.</p><p>Ehlayel MS, Lacassie Y. 1995. Satoyoshi syndrome: An unusualpostnatal multisystemic disorder. Am J Med Genet 57:620625.</p><p>Endo K, Yamamoto T, Nakamura K, Hoshi A, Yamanoi T, Watanabe A,Homma M. 2003. Improvement of Satoyoshi syndrome with tacrolimusand corticosteroids. Neurology 60:20142015.</p><p>Haymon M, Willis RB, Ehlayel MS, Lacassie Y. 1997. Radiological andorthopedic abnormalities in Satoyoshi syndrome. Pediatr Radiol27:415418.</p><p>Ikeda K, Satoyoshi E, Kinoshita M, Wakata N, Iwasaki Y. 1998. Satoyoshissyndrome in an adult: A review of the literature of adult onset cases.Intern Med 37:784787.</p><p>Ikegawa S, Nagano A, Nakamura K, Kurokawa T. 1993a. A case of Satoyoshisyndrome. J Pediatr Orthop 13:793796.</p><p>Ikegawa S, Nagano A, Satoyoshi E. 1993b. Skeletal abnormalities inSatoyoshi syndrome: A radiographic study of eight cases. Skeletal Radiol22:321324.</p><p>Kamat D, Petry L, Berry S. 2003. A case of Satoyoshi syndrome: Amultisystem disorder. Clin Pediatr (Phila) 42:745748.</p><p>Kuru S, Riku S, Nakayabu M, Kobayashi Y, leda T. 1992. A case ofsyndrome of progressive muscle spasm, alopecia, and diarrhea(Satoyoshi) treated with steroid pulse therapy. Rinsho Shinkeigaku32:612615.</p><p>Matsuo N, Fujioka M, Tsuchiya Y, Cho H, Nagai T, Kumagai M. 1983.Multiple metaphyseal lesions in a child with a syndrome of progressivemuscle cramps, alopecia and stunted growth (Satoyoshi disease). RadiatMed 1:205207.</p><p>Merello M, Garca H, Nogues M, Leiguarda R. 1994. A masticatory musclespasm in a non-Japanese patient with Satoyoshi syndrome successfullytreated with botulinum toxin. Mov Disord 9:104105.</p><p>Oyama M, Imaizumi T, Mitsuhashi Y, Kondo S. 1999. Satoyoshi syndrome.Arch Dermatol 135:9192.</p><p>Satoh A, Tsujihata M, Yoshimura T, Mori M, Nagataki S. 1983. Myastheniagravis associated with Satoyoshi syndrome: Muscle cramps, alopecia, anddiarrhea. Neurology 33:12091211.</p><p>Satoyoshi E. 1978. A syndrome of progressive muscle spasm, alopecia, anddiarrhea. Neurology 28:458471.</p><p>2450 AMERICAN JOURNAL OF MEDICAL GENETICS PART A</p></li><li><p>Satoyoshi E, Yamada K. 1967. Recurrent muscle spasm of central origin.Arch Neurol 16:254263.</p><p>Tajima Y, Tashiro K, Gotoh Y. 1994. Satoyoshi disease (generalizedkomuragaeri disease) associated with bilateral gastrocnemius hyper-thophy. Shinkei Naika 41:9394.</p><p>Wisuthsarewong W, Likitmaskul S, Manonukul J. 2001. Satoyoshi syn-drome. Pediatr Dermatol 18:406410.</p><p>Yamagata T, Miyao M, Momoi M, Matsumoto S, Yanagisawa M. 1991. Acase of generalized Komuragaeri disease (Satoyoshi disease) treated withglucocorticoid. Rinsho Shinkeigaku 31:7983.</p><p>VENEGAS-VEGA ET AL. 2451</p></li></ul>

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