Clinical course without treatment may result in serious disability or death. We studied a woman who had evidence of myasthenia gravis at age 17. Adultonset satoyoshi syndrome with prominent laterality. Pdf satoyoshi syndrome is a rare multisystemic disease of presumed autoimmune etiology characterized by progressive painful intermittent muscle. Adultonset satoyoshi syndrome with prominent laterality of. Typical clinical features are progressive painful muscle spasms, alopecia, diarrhoea, and skeletal and endocrine abnormalities often resulting in early invalidism and death. Skeletal abnormalities of eight patients with satoyoshi s syndrome, a rare condition of unknown etiology characterized by progressive muscle spasms, alopecia, and diarrhea, were studied radiographically. Positive muscle phenomenadiagnosis, pathogenesis and.
Satoyoshi syndrome is a rare disorder of unknown cause characterized by progressive, painful intermittent muscle spasms, malabsorption, alopecia, amenorrhea, and skeletal abnormalities mimicking a skeletal dysplasia. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Treatment for dystonia depends upon several factors including the specific subtype present and can include medications, botulinum toxin injections, physical therapy and surgery. We report a child with satoyoshi syndrome manifested by involuntary painful muscle contractions and alopecia. She is now spasm free but on follow up and under consideration for methotrexate therapy. In both cases, a partial response to immunomodulating agents such as immunoglobulin or high dose steroids may be seen. It is frequently attended by pain and functional interference. Myasthenia gravis associated with satoyoshi syndrome neurology. It consists of progressive painful muscular spasms, diarrhoea, alopecia and endocrine abnormalities, e. Satoyoshi syndrome with autoimmune features high levels of antinuclear antibody and antibodies to thyroid tissue and malabsorption due to eosinophilic enteritis. A common antibody against brain, stomach, and duodenal tissue, according to western blot analysis, was detected in the sera of two patients with this syndrome. Issacs syndrome also known as neuromyotonia, isaacsmertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome is a rare neuromuscular disorder caused by hyperexcitability and continuous firing of the peripheral nerve axons that activate muscle fibers. Skeletal involvement includes epiphyseal and metaphyseal osteolytic lesions, thought to be due to repeated injuries to the growth plates, epiphyses and. We report a 11year old girl presenting with the typical features of alopecia totalis, severe muscle spasm and skeletal deformities.
Oct 01, 2001 satoyoshi syndrome is a very rare disorder of unknown etiology, characterized by progressive, intermittent, painful muscle spasms, alopecia universalis, diarrhea or unusual malabsorption, various endocrine disorders, and secondary skeletal abnormalities. The similarity with a jerking stiffman syndrome a variant of stiffman syndrome sms is striking. Improvement of satoyoshi syndrome with tacrolimus and. Dystonia was first described in the medical literature as far back as the 1800s. A cause of alopecia universalis in association with neurologic and bony abnormalities. Jul 23, 2017 satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. Satoyoshi syndrome ss omim 600705 is a rare multisystem disease.
Satoyoshi syndrome is a rare disease characterized by alopecia, recurrent. Satoyoshi syndrome komuragaeri disease scleroderma seizures sepsis shingles sickle cell anemia sirenomelia sequence sjogrens syndrome sleep apnea. Satoyoshi syndrome is a rare disease characterized by alopecia, recurrent muscle spasms, diarrhea, and skeletal abnormalities adultonset disease is reported only in five patients. Full text pdf 876k abstracts references24 citedby1 we herein report the case of a patient with adultonset satoyoshi syndrome. Satoyoshi syndrome neurology jama dermatology jama network. Satoyoshi syndrome is a rare disease presumed to be immunologically mediated, characterized by muscle spasms, alopecia and diarrhea. We report a typical clinical case of satoyoshi syndrome in a 20yearold.
Satoyoshi syndrome is a rare disorder characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea, and secondary skeletal abnormalities. Adultonset satoyoshi syndrome and response to plasmapheresis rajeshwari aghoram 1, pr srijithesh 2, sudheeran kannoth 3 1 department of neurology, jawaharlal institute of postgraduate medical education and research jipmer, pondicherry, india 2 department of neurology, badr al samaa hospital, ruwi, muscat, sultanate of oman 3 neuroimmunology laboratory, amrita institute of medical sciences. Satoyoshi syndrome, also known as komuragueri syndrome, is a rare progressive disorder of presumed autoimmune etiology, characterized by painful muscle spasms, alopecia, diarrhea, endocrinopathy with amenorrhoea and secondary skeletal abnormalities. Satoyoshi syndrome is a multisystemic rare disease of unknown etiology, although an autoimmune basis is presumed. This patient is only the fifth adult in the world reported to have satoyoshi syndrome, and the firstreported adult case from south africa. The serotonin syndrome is a potentially lifethreatening drug reaction that may result from therapeutic medication use, selfpoisoning, or interactions between drugs. Request pdf from the authors satoyoshi syndrome satoyoshi syndrome is a very rare disorder of unknown etiology, characterized by progressive, intermittent, painful muscle spasms, alopecia. Satoyoshi syndrome is a very rare disorder of unknown etiology, characterized by progressive, intermittent, painful muscle spasms, alopecia universalis, diarrhea or unusual malabsorption, various endocrine disorders, and secondary skeletal abnormalities. The japanese also call this disorder komuragaeri disease komuracalf, gaeriturnover or spasm.
Involuntary painful muscle contractions in satoyoshi syndrome. If you have problems viewing pdf files, download the latest version of. May 14, 2015 symptoms, risk factors and treatments of satoyoshi syndrome medical condition satoyoshi syndrome, also known as komuraguerri syndrome, is a rare progressive disorder of presumed autoimmune. We use cookies to offer you a better experience, personalize content, tailor advertising, provide social media features, and better understand the use of our services. This patient had alopecia, muscle spasms, and skeletal abnormalities, which are three of the most common clinical features of satoyoshi syndrome.
Satoyoshi e and yamada k 1967 recurrent muscle spasms of central origin. Satoyoshi syndrome komuragaeri disease is a rare disorder of presumed. Learn indepth information on satoyoshi syndrome, its causes, symptoms, diagnosis, complications, treatment, prevention, and prognosis. Most of the reports have not characterized the nature of muscle spasm in the disease. Satoyoshi syndrome is a rare disorder of presumed autoimmune origin that typically presents with muscle spasms, alopecia, endocrinopathy, and diarrhea.
The syndrome was first reported in 1967 by eijiro satoyoshi and kaneo yamada in tokyo, japan. Ready to use therapeutic food rutf in the management of. We here report that daily tacrolimus with alternateday oral prednisolone improved amenorrhea and. Less than 50 patients with satoyoshi syndrome have been reported in the world literature. Satoyoshi syndrome ss omim 600705 is a rare multisystemic disorder of unknown etiology characterized by progressive painful intermittent muscle spasm, alopecia universalis, diarrhea, short stature, amenorrhea, and secondary skeletal abnormalities mimicking a metaphyseal chondrodysplasia. Satoyoshi syndrome is a rare syndrome first described by satoyoshi and yamada1 in 1967. We here report that daily tacrolimus with alternateday oral prednisolone improved amenorrhea and alopecia as well. Satoyoshi syndrome komuragaeri disease is a rare disorder of presumed autoimmune etiology, characterized by painful muscle spasms, alopecia, diarrhea, endocrinopathy with amenorrhoea and secondary skeletal abnormalities.
Satoyoshi syndrome is a rare disease with characteristic manifestations that make its clinical diagnosis easy if it is suspected. After a month of treatment there was improvement of. Satoyoshi syndrome is a rare multisystemic disorder with assumed autoimmune pathogenesis. Satoyoshi syndrome is a rare disease characterized by alopecia, recurrent muscle spasms, diarrhea, and skeletal abnormalities. A case of adultonset satoyoshi syndrome with gastric ulceration. A muscle spasm or cramp may be defined as a sudden, violent involuntary contraction of a muscle or group of muscles.
Satoyoshi syndrome is a rare disorder of unknown etiology characterized by progressive, painful intermittent muscle spasms, severe skeletal abnormalities mimicking a skeletal dysplasia, malabsorption, alopecia, and amenorrhea. This validates the autoimmune nature of this disorder and suggests that it might be a variant of stiffman syndrome. Painful muscle spasms were also noted in the abdomen and left upper and lower extremities, and a. Deposition of immune complexes igg, c3, and c9 was demonstrated at the motor endplates of limb muscle biceps brachii. Down syndrome or trisomy 21 is the most common trisomy and also the commonest chromosomal disorder.
Adultonset satoyoshi syndrome and response to plasmapheresis. Dystonia nord national organization for rare disorders. The patients histological findings and positivity for autoantibodies indicated the presence of immunological abnormalities in this case of satoyoshi syndrome. We report a 12yearoldgirl presented with loss of hair from the scalp for 7 years. A 20yearold woman was referred for botulinum toxin treatment for jaw dystonia. Female reproductive diseases genetic and rare diseases. In juvenile, but not in adult, onset cases the powerful muscle spasms had been postulated to lead to skeletal abnormalities and subsequent growth retardation. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates malabsorption. Earlier this year, antigad antibodies were described with satoyoshi syndrome. An unusual postnatal multisystemic disorder, american journal of medical genetics part a on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. So far, less than 40 cases have been reported worldwide. Satoyoshi syndrome ss orpha 3, also called komuragaeri disease, is a rare disorder with fewer than 70 cases reported in the medical. A case of adultonset satoyoshi syndrome with gastric.
Botulinum toxin treatment of muscle spasms in a case of. Jump to navigation jump to search this is an alphabeticallysorted list of medical. Satoyoshi syndrome with unusual skeletal abnormalities and. Syndrome of inappropriate antidiuretic hormone secretion. Using face2gene to reference all my departments cases, share information with my colleagues and quickly look up relevant information in the london medical databases online saves me hours of work every week and allows me to focus on my patients.
Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. Isaacs syndrome information page national institute of. High glycine levels in the cerebrospinal fluid in satoyoshi syndrome. Please remove adblock adverts are the main source of revenue for dovemed. The full text of this article is available in pdf format. In this communication two cases are presented with recurrent muscle spasms in isolated or. Satoyoshi syndrome, also known as komuraguerri syndrome, is a rare progressive disorder of presumed autoimmune cause, characterized by painful muscle spasms, alopecia, diarrhea, endocrinopathy with amenorrhoea and secondary skeletal abnormalities. 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. Sir, i read with interest a case report of satoyoshi syndrome by ashalatha et al. If you have problems viewing pdf files, download the latest version of adobe reader. She is only the fifth reported case of adultonset satoyoshi syndrome usual age of onset is 519 years, and the first person reported to have a combination of satoyoshi syndrome, gastric. Distal limb involvement, myoclonic jerking, boardlike muscles, stimulusevoked spasms, endocrinopathies, vitiligo, pernicious anemia and sicca syndrome can also be seen in jerking sms. For language access assistance, contact the ncats public information officer.
Satoyoshi syndrome ss is characterized by progressive, painful intermittent generalized muscle spasms, alopecia, diarrhea, secondary skeletal abnormalities, and endocrinopathy with amenorrhea. In the next 10 years, satoyoshi collected an additional 15 cases with autopsy studies in 2. This case is the first report of satoyoshi syndrome associated with a sensory disturbance. The syndrome was first reported in 1967 by eijito satoyoshi and kaneo yamada in tokyo, japan.
Satoyoshi syndrome is a rare disorder characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with. At age 19, she gradually developed alopecia and painful muscle spasms satoyoshi disease. Various skeletal changes were observed including metaphyseal lesions, slipping of multiple epiphyses, cystic lesions, acroosteolysis and osteolysis, bone fragmentation at tendinous insertions. Satoyoshi syndrome is a rare disorder, characterized clinically by intermittent painful muscle spasms, alopecia and diarrhea. These findings suggest that satoyoshi syndrome is a systemic autoimmune disease involving the nervous, endocrine, and gastrointestinal systems. Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia totalis or universalis in. Satoyoshi syndrome ss is a rare disorder of unknown cause characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea, secondary skeletal abnormalities, and especially alopecia areata. Satoyoshi syndrome genetic and rare diseases information. Symptoms, risk factors and treatments of satoyoshi syndrome medical condition satoyoshi syndrome, also known as komuraguerri syndrome, is a. Jun 24, 2003 satoyoshi syndrome ss is characterized by progressive, painful intermittent generalized muscle spasms, alopecia, diarrhea, secondary skeletal abnormalities, and endocrinopathy with amenorrhea.
Dystonia may even spontaneously remit in rare cases. Endocrine disturbances, mainly primary amenorrhea with tendency to hypoplastic uterus. Satoyoshi syndrome is a rare autoimmune disease characterized by alopecia, painful muscle spasms, diarrhea and secondary skeletal changes. Since its description in the decade of the 60s, a multitude of drugs have been tested for its treatment. Adultonset disease is reported only in five patients. Satoyoshi syndrome is a rare multisystemic disorder, first described by satoyoshi and yamada in 1967. Satoyoshi syndrome was first reported in 1967 by eijiro satoyoshi and kaneo yamada, in tokyo.
January 1, 1999 issue of jama dermatology jama network. Satoyoshi syndrome is a rare autoimmune disease characterized by alopecia. Alopecia was detected on the patients head, left leg and abdomen, with pigmentation on the left thigh and abdomen. Satoyoshis disease a syndrome of progressive muscle. Less than 60 cases have been reported in the literature, and majority are reported in the pediatric age group. Satoyoshi syndrome neurology jama dermatology jama. It is a major cause of intellectual disability, and also has numerous multisystem manifestations. Pdf satoyoshi syndrome is a rare condition of presumed autoimmune. Supernumerary nipplesuropathiesbeckers nevus syndrome. Adultonset satoyoshi syndrome and response to plasmapheresis rajeshwari aghoram 1, pr srijithesh 2, sudheeran kannoth 3 1 department of neurology, jawaharlal institute of postgraduate medical education and research jipmer, pondicherry, india 2 department of neurology, badr al samaa hospital, ruwi, muscat, sultanate of oman 3 neuroimmunology laboratory, amrita institute of medical. Most of the previous reports are of the japanese people. Satoyoshi syndrome ashalatha r, kishore a, sarada c, nair. These muscle spasms usually start between 615 years old. Satoyoshi syndrome ashalatha r, kishore a, sarada c, nair md.
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