Positive muscle phenomenadiagnosis, pathogenesis and. This case is the first report of satoyoshi syndrome associated with a sensory disturbance. Satoyoshi syndrome ashalatha r, kishore a, sarada c, nair md. Pdf satoyoshi syndrome is a rare disorder of unknown etiology characterized by progressive, painful intermittent muscle spasms, severe skeletal. The dystonic syndromes include a large group of diseases that have been classified into various aetiological categories, such as primary, dystoniaplus, heredodegenerative, and secondary. This patient is only the fifth adult in the world reported to have satoyoshi syndrome, and the firstreported adult case from south africa. Sixtyfour cases of satoyoshi syndrome were published. Satoyoshi syndrome is a rare, slowly progressive disorder of unknown etiology with a poor longterm prognosis. Satoyoshi syndrome is a multisystemic rare disease of unknown etiology, although an autoimmune basis is presumed. Satoyoshi syndrome neurology jama dermatology jama.
Satoyoshi syndrome consists of painful intermittent muscle spasms, alopecia and diarrhea. On examination the mouth opening was 0 mm, no feeding was possible through the mouth. Vinicius viana abreu montanaro a, thiago falcao hora a. Satoyoshi syndrome is a rare disease characterized by alopecia, recurrent. Most of the previous reports are of the japanese people. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates malabsorption. Satoyoshi syndrome ss is characterized by progressive, painful intermittent generalized muscle spasms, alopecia, diarrhea, secondary skeletal abnormalities, and endocrinopathy with amenorrhea. Nakanishi t, sobue i, toyokura y, nishitani t, kuroiwa y, satoyoshi e et al. We here report that daily tacrolimus with alternateday oral prednisolone improved amenorrhea and alopecia as well.
The syndrome was first reported in 1967 by eijito satoyoshi and kaneo yamada in tokyo, japan. 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. Bruxism secondary to brain injury treated with botulinum. Adultonset satoyoshi syndrome in a young male neuromuscular. A 14yearold boy with satoyoshi syndrome is reported. Support for this hypothesis includes favorable response of muscular spasms, amenorrhea, and alopecia to glucocorticoids. We encountered a patient with satoyoshi s syndrome who presented with mainly gi. The pathogenesis of satoyoshi syndrome has been thought to involve an autoimmune mechanism. A case of adultonset satoyoshi syndrome with gastric ulceration. 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. A mandatory criterion to diagnose poems syndrome is the presence of a monoclonal plasma cell dyscrasia in which plasma cell leukemia is the most aggressive form. We encountered a patient with satoyoshis syndrome who. The age of onset is typically less than 20 years of age, although three adult onset cases had been.
Comments article pdf available in neurology india 522. 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. In this communication two cases are presented with recurrent muscle spasms in isolated or groups of muscles, associated. 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. Satoyoshi syndrome genetic and rare diseases information. Autoimmunity targeting voltagegated potassium channel complexes have not been systematically documented in children. With recent advances in molecular research, it is possible to diagnose many of the various albinism conditions on the basis of genetic causation. Jan 01, 2002 satoyoshi syndrome is a rare, slowly progressive disorder of unknown etiology with a poor longterm prognosis. This patient had alopecia, muscle spasms, and skeletal abnormalities, which are three of the most common clinical features of satoyoshi syndrome. Wed like to understand how you use our websites in order to improve them. We studied a woman who had evidence of myasthenia gravis at age 17. Nakanishi t, sobue i, toyokura y, nishitani h, kuroiwa y, satoyoshi e, tsubaki t, igata a, ozaki y. Clinical course without treatment may result in serious disability or death. Satoyoshi syndrome komuragaeri disease is a rare disorder of presumed autoimmune etiology, characterized by painful muscle.
Efficacy and safety of a 14day administration of tolvaptan. Skeletal abnormalities of eight patients with satoyoshis syndrome, a rare condition of unknown etiology characterized by progressive muscle spasms, alopecia, and diarrhea, were studied radiographically. Identified in the neuroimmunology laboratory records of mayo clinic were 12 seropositive children, 7 among 252 mayo clinic pediatric patients tested on a service basis for serologic evidence of neurologic autoimmunity june 2008april 2010, 4 during the assays. Less than 60 cases have been reported in the literature, and majority are reported in the pediatric age group. Satoyoshi syndrome is a very rare disorder of unknown etiology, characterized by progressive, intermittent, painful muscle spasms, alopecia. The syndrome was first reported in 1967 by eijiro satoyoshi and kaneo yamada in tokyo, japan. We here report that daily tacrolimus with alternateday oral. 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 disease characterized by alopecia, recurrent muscle spasms, diarrhea, and skeletal abnormalities. 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. The past classification of albinism was predicated on phenotypic expression, but now molecular biology has defined the condition more accurately. Satoyoshi syndrome bioinformatics tool laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on cocitations. Deposition of immune complexes igg, c3, and c9 was demonstrated at the motor endplates of limb muscle biceps brachii. A unilateral presentation of satoyoshi syndrome sciencedirect.
These muscle spasms usually start between 615 years old. 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. Adultonset disease is reported only in five patients. Consecutive male or female patients with cirrhosis of the liver, who met all of the following criteria, were eligible for inclusion in the study. This was a multicentre, singlearm, phase 3 study conducted between january and december 2010 at 39 study sites in japan. It is frequently attended by pain and functional interference. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for satoyoshi syndrome. One further treatment improved the mouth opening on the following. Dystonia is a syndrome characterised by sustained muscle contractions, producing twisting, repetitive, and patterned movements, or abnormal postures. A 20yearold woman was referred for botulinum toxin treatment for jaw dystonia. Botulinum toxin was injected into the masseter and temporalis. 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.
Plasma cell dyscrasia with polyneuropathy and endocrine disorder. We present a patient with this syndrome having a unique mesh. Satoyoshis syndrome is a disease of unknown cause, first described by satoyoshi and yamada1 in 1964. Satoyoshi syndrome was first reported in 1967 by eijiro satoyoshi and kaneo yamada, in tokyo. For more information on how to use laverne, please read the how to guide. Learn indepth information on satoyoshi syndrome, its causes, symptoms, diagnosis, complications, treatment, prevention, and prognosis. Endocrine disturbances, mainly primary amenorrhea with tendency to hypoplastic uterus. This patient had alopecia, muscle spasms, and skeletal abnormalities, which are three of the most common clinical features of. Satoyoshi syndrome is a rare condition of presumed autoimmune etiology that is.
Growth factors and proinflammatory cytokines in the renal. Poems syndrome is an acronym for polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes, which is a rare paraneoplastic disease of monoclonal plasma cells. People affected by satoyoshi syndrome may also have loss of hair on the. Satoyoshi syndrome is a rare postnatal disorder with muscle spasms, alopecia, and diarrhea of unknown etiology. Various skeletal changes were observed including metaphyseal lesions, slipping of multiple epiphyses, cystic lesions, acroosteolysis and osteolysis, bone fragmentation at tendinous insertions. Pdf satoyoshi syndrome is a rare multisystemic disease of presumed autoimmune etiology characterized by progressive painful intermittent muscle. Adultonset satoyoshi syndrome and response to plasmapheresis. Various skeletal changes were observed including metaphyseal lesions, slipping of multiple epiphyses, cystic lesions, acroosteolysis and osteolysis, bone. Radiological and orthopedic abnormalities in satoyoshi syndrome. Classification and genetics of dystonia the lancet neurology. A gene deleted in kallmanns syndrome shares homology with neural cell adhesion and axonal pathfinding molecules brunella franco 1, 7, 8, 9 silvana guioli 3. We report a 65yearold japanese woman with satoyoshis syndrome of adult onset. Please remove adblock adverts are the main source of revenue for dovemed.
In juvenile, but not in adult, onset cases the powerful muscle spasms had been postulated to lead to skeletal abnormalities and subsequent growth retardation. Satoyoshi s syndrome is a disease of unknown cause, first described by satoyoshi and yamada1 in 1964. The age of onset is commonly less than 20 years of age. Jun 24, 2003 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. 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. Myasthenia gravis associated with satoyoshi syndrome neurology. Improvement of satoyoshi syndrome with tacrolimus and. Adultonset satoyoshi syndrome with prominent laterality of. Abnormality of vasoactive intestinal peptide secretion disorder 237575002, snomedct abscess of intestine disorder 24557004, snomedct acute intestinal ischemia cooccurrent and due to obstruction of intestinal vasculature disorder 735595001, snomedct adhesion of intestine disorder 29886007, snomedct anal spasm disorder 17440005, snomed.
Nutritional deficiency seems to influence lifespan. Although the syndrome does include a neuromuscular component with hypotonia and museie weakness 2, 10, only few studies of skeletal museie have been published in the literature, most of them only in the form of individual case reports 4, 6, 8, 12, 14, 18,21,22,23. Movement disorders clinical practice wiley online library. Gi manifestations of satoyoshis syndrome gastrointestinal. Identified in the neuroimmunology laboratory records of mayo clinic were 12 seropositive children, 7 among 252 mayo clinic pediatric patients tested on a service basis for serologic evidence of neurologic autoimmunity june 2008april 2010, 4. 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. It is commonly characterized by 3 clinical features, namely, progressive muscle spasms, generalized alopecia, and diarrhea.
Satoyoshi syndrome with autoimmune features high levels of antinuclear antibody and antibodies to thyroid tissue and malabsorption due to eosinophilic enteritis. If you have problems viewing pdf files, download the latest version of adobe reader. Satoyoshi syndrome is a multisystemic rare disease of unknown etiology, although an. The syndrome consists of the following clinical features. The poems syndrome is a multisystemic syndrome associated with plasma cell dyscrasia, characterized by the combination of polyneuropathy, organomegaly, endocrinopathy, m protein, and skin changes. 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. Jul 23, 2017 satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. We further report on a 20 1 2yearold caucasian woman with characteristic manifestations of the syndrome. However, clinical features associated with gi lesions have not been previously discussed. Renal involvement in poems syndrome is rare 26 reported cases. Satoyoshi syndrome neurology jama dermatology jama network. Nov 23, 2006 we report a successful treatment of bruxism in a patient with anoxic brain injury using botulinum toxina btxa. Satoyoshi syndrome is a rare disorder, characterized clinically by intermittent painful muscle spasms, alopecia and diarrhea. Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms.
A gene deleted in kallmanns syndrome shares homology with. At age 19, she gradually developed alopecia and painful muscle spasms satoyoshi disease. We report a successful treatment of bruxism in a patient with anoxic brain injury using botulinum toxina btxa. An unfortunate polyneuropathy, organomegaly, endocrinopathy. Less than 50 patients with satoyoshi syndrome have been reported in the world literature. Jun 19, 2019 satoyoshi syndrome is a multisystemic rare disease of unknown etiology, although an autoimmune basis is presumed. We report a 65yearold japanese woman with satoyoshi s syndrome of adult onset. The age of onset is typically less than 20 years of age, although three adult. Neuronal voltagegated potassium channel complex autoimmunity. It has been described as membranoproliferative glomerulonephritislike lesions mpgnlike.
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