Full text full text is available as a scanned copy of the original print version. Satoyoshi syndrome is a multisystem disorder characterized by hair loss, muscle spasms and diarrhea. Typical clinical features are progressive painful muscle spasms, alopecia, diarrhoea, and skeletal and endocrine abnormalities often resulting in early invalidism and death. Cns disorders are the much more common causes of the syndrome than neuromuscular disorders. Anesthesiainduced rigidity, unrelated to succinylcholine. Here are links to possibly useful sources of information about satoyoshi syndrome. In this communication two cases are presented with recurrent muscle spasms in isolated or groups of muscles, associated.
Satoyoshi syndrome ashalatha r, kishore a, sarada c, nair. The term myotonia refers to muscle stiffness or an inability to relax the muscles and can be evidenced by abnormal electromyography emg results. Satoyoshi syndrome is a rare disorder characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea, and secondary skeletal abnormalities. Floppinesshypotonia is a common neurologic symptom in infancy. With the diagnosis of satoyoshi syndrome, treatment with prednisone. We report the first case of adult onset satoyoshi syndrome in south america. Satoyoshi syndrome neurology jama dermatology jama. Mar 21, 2017 satoyoshi syndrome with progressive orofacial manifestations. Sir, i read with interest a case report of satoyoshi syndrome by ashalatha et al.
The syndrome was first reported in 1967 by eijiro satoyoshi and kaneo yamada in tokyo, japan. Glutamic acid decarboxylase antibodies in satoyoshi syndrome. It is frequently attended by pain and functional interference. The present case highlights the need for an awareness of acute compartment syndrome in patients on warfarin therapy and. This case is the first report of satoyoshi syndrome associated with a sensory disturbance. Check the full list of possible causes and conditions now. A case history report li, jian peng, dong jiang, ting aviviarber, limor a young female patient suffering from satoyoshi syndrome had the first characteristic signs and symptoms of hair loss and progressive spontaneous intermittent painful spasms of limb muscles at age 6. Drugs used can be divided into two main groups of treatment. Satoyoshi syndrome was first reported in 1967 by eijiro satoyoshi and kaneo yamada, in tokyo. The japanese also call this disorder komuragaeri disease komuracalf, gaeriturnover or spasm. Based on this episode, we now advise against the use of either succinylcholine or halothane in patients with smithlemliopitz syndrome. Most of the previous reports are of the japanese people.
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. Abstract 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. 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. This research examines the genetics, symptoms, progression, and psychological and behavioral impact of diseases, with the. Pdf satoyoshi syndrome is a rare condition of presumed autoimmune etiology that is characterized by intermittent painful spasms, diarrhea. Satoyoshi syndrome with autoimmune features high levels of antinuclear antibody and antibodies to thyroid tissue and malabsorption due to eosinophilic enteritis. Clinical course without treatment may result in serious disability or death. The core na syndromes include autosomal recessive chorea.
Neuroacanthocytosis syndromes orphanet journal of rare. A case of adultonset satoyoshi syndrome with gastric. To this date, fewer than 50 cases worldwide have been reported for the satoyoshi syndrome. Get a printable copy pdf file of the complete article 477k, or click on a page image below to browse page by page. 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, snomedct behcets syndrome. 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. Na syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 000 inhabitants for each disorder. 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.
Neuroscience and neuroanatomy are at the forefront of exploring this great unknown. Adultonset satoyoshi syndrome in a young male sciencedirect. Oct 25, 2011 neuroacanthocytosis na syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. Links to pubmed are also available for selected references. We report a typical clinical case of satoyoshi syndrome in a 20yearold. So far, less than 40 cases have been reported worldwide. Get a printable copy pdf file of the complete article 574k, or click on a page image below to browse page by page. Halothane did not cause rigidity in the patient studied with stiffbaby syndrome, but succinylcholine did not result in normal degrees of skeletal muscle relaxation. Idiopathic hypereosinophilic syndrome presenting as childhood. Involuntary painful muscle contractions in satoyoshi syndrome. Involuntary painful muscle contractions in satoyoshi.
These findings suggest that satoyoshi syndrome is a systemic autoimmune disease involving the nervous, endocrine, and gastrointestinal systems. Muscle spasticitydiagnosis stiffperson syndrome diagnosis. 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. The age of onset is commonly less than 20 years of age. Satoyoshi syndrome genetic and rare diseases information. The patient responded well to an emergent fasciotomy.
A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for satoyoshi syndrome. List of 559 disease causes of menstrual irregularities, patient stories, diagnostic guides. Jul 23, 2017 satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. Language english format pdf pages 279 isbn 9781461477860 file size 1. This patient is only the fifth adult in the world reported to have satoyoshi syndrome, and the firstreported adult case from south africa. 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. Satoyoshi syndrome, also known as komuraguerri syndrome, is a rare progressive disorder of presumed autoimmune cause, characterized by painful muscle. Full text is available as a scanned copy of the original print version. To this date, less than 40 cases worldwide have been. Satoyoshi syndrome is a multisystem disorder of suspected autoimmune etiology, characterized predominantly by alopecia, muscle spasms and diarrhea. Adultonset satoyoshi syndrome and response to plasmapheresis. 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. Pdf satoyoshi syndrome is a rare multisystemic disease of presumed autoimmune etiology characterized by progressive painful intermittent muscle. Code system concept centers for disease control and.
The similarity with a jerking stiffman syndrome a variant of stiffman syndrome sms is striking. Satoyoshi syndrome is a rare disease with characteristic manifestations that make its clinical diagnosis easy if it is suspected. Satoyoshi syndrome komuragaeri disease is a rare disorder of presumed. Satoyoshi syndrome is a multisystemic rare disease of unknown etiology, although an autoimmune basis is presumed. We here describe a 25yearold man who developed symptoms similar to neuroleptic malignant syndrome nms. This item appears in the following collections faculty of medical sciences 68410. Compartment syndrome in a patient on warfarin with a ruptured. We report a child with satoyoshi syndrome manifested by involuntary painful muscle contractions and alopecia. Brody myopathy genetic and rare diseases information. Full text pdf 950k abstracts references19 citedby10 satoyoshi syndrome consists of painful intermittent muscle spasms, alopecia and diarrhea.
A variety of neuromuscular disorders and central nervous system cns disorders cause floppy infant syndrome fis. Distal limb involvement, myoclonic jerking, boardlike muscles, stimulusevoked spasms, endocrinopathies, vitiligo, pernicious anemia and sicca syndrome can also be seen in jerking sms. Satoyoshi syndrome is a very rare disorder of unknown etiology, characterized by progressive, intermittent, painful muscle spasms, alopecia. The disorder is also called komuragaeri disease by the japanese. We initiated treatment with intravenous immunoglobulin ivig, but the patient did not show any improvement despite waiting for a period of 4 weeks after therapy. Satoyoshi syndrome is a rare disease presumed to be immunologically mediated, characterized by muscle spasms, alopecia and diarrhea. A 14yearold boy with satoyoshi syndrome is reported. Satoyoshi syndrome is a rare condition of presumed autoimmune etiology that is characterized by intermittent painful spasms, diarrhea, hair loss, and bone abnormalities. Sep 01, 2007 read satoyoshi syndrome has antibody against brain and gastrointestinal tissue, muscle and nerve on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. The ninds supports an extensive research program of basic studies to increase understanding of diseases that affect the brain, spinal cord, muscles, and nerves. 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. Satoyoshi syndrome also referred to as komuraguerri cramp in the calf syndrome is a rare multisystem disorder first reported by satoyoshi and yamada in japan in 1957. Adultonset satoyoshi syndrome with prominent laterality. The trip database provides clinical publications about evidence.
Satoyoshi syndrome is a rare syndrome first described by satoyoshi and yamada1 in 1967. Electronic publications 80372 freely accessible full text publications plus those not yet available due to embargo. Endocrine diseases genetic and rare diseases information. Peripheral nerve hyperexcitability syndromes springerlink. 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 patients histological findings and positivity for autoantibodies indicated the presence of immunological abnormalities in this case of satoyoshi syndrome. In the next 10 years, satoyoshi collected an additional 15 cases with autopsy studies in 2. Learn indepth information on satoyoshi syndrome, its causes, symptoms, diagnosis, complications, treatment, prevention, and prognosis. Code system concept centers for disease control and prevention.
A muscle spasm or cramp may be defined as a sudden, violent involuntary contraction of a muscle or group of muscles. Diagnostic checklist, medical tests, doctor questions, and related signs or symptoms for menstrual irregularities. A 20yearold woman was referred for botulinum toxin treatment for jaw dystonia. 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. Although an autoimunne origin of satoyoshi syndrome seems likely, its exact etiology remains as yet unknown, as is the origin of the involuntary contractions. Less than 50 patients with satoyoshi syndrome have been reported in the world literature. Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized. Since its description in the decade of the 60s, a multitude of drugs have been tested for its treatment. 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. Bruxism secondary to brain injury treated with botulinum. Nov 28, 2015 zellweger syndrome here is a pdf of all 75 esoteric neurology conditions. How do i view different file formats pdf, doc, ppt, mpeg on this site. Satoyoshi syndrome ashalatha r, kishore a, sarada c, nair md.
Alopecia disorder code system preferred concept name. We report a 11year old girl presenting with the typical features of alopecia totalis, severe muscle spasm and skeletal deformities. Snomedct satoyoshi syndrome disorder 763630007, snomedct stenosis of. 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. Nov 23, 2006 we report a successful treatment of bruxism in a patient with anoxic brain injury using botulinum toxina btxa. If you have problems viewing pdf files, download the latest version of adobe reader. Satoyoshi syndrome is a rare disorder of unknown cause characterized. 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. A case of adultonset satoyoshi syndrome with gastric ulceration. On examination the mouth opening was 0 mm, no feeding was possible through the mouth. The syndrome primarily affects girls and young women. For language access assistance, contact the ncats public information officer.
Satoyoshi syndrome neurology jama dermatology jama network. One further treatment improved the mouth opening on the following. These muscle spasms usually start between 615 years old. Trichoscopy shows regularly distributed yellow dots, indistinguishable from typical alopecia areata. Alopeciadiagnosis autoimmune diseasesdiagnosis diagnosis, differential. Ideal sources for wikipedia s health content are defined in the guideline wikipedia. Satoyoshi syndrome is a rare autoimmune disease characterized by alopecia, painful muscle spasms, diarrhea and secondary skeletal changes. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Satoyoshi syndrome is a rare neurological disorder of unknown etiology characterized by progressive muscle spasms, alopecia, diarrhea and skeletal abnormalities. The syndrome was first reported in 1967 by eijito satoyoshi and kaneo yamada in tokyo, japan. In people with brody myopathy, the term pseudomyotonia is used to describe these muscle symptoms. Satoyoshi syndrome with progressive orofacial manifestations. Satoyoshi syndrome is a rare multisystemic disorder with assumed autoimmune pathogenesis.
The condition may be easily misdiagnosed and treated as alopecia areata. Isaacs syndrome information page national institute of. Gordon millichap neurological syndromes a clinical guide. Botulinum toxin was injected into the masseter and temporalis. Satoyoshi syndrome has antibody against brain and gastrointestinal tissue. Diagnostic criteria for satoyoshi syndrome journal of the american. Peripheral nerve hyperexcitability pnh syndromes are an uncommon group of conditions characterised by spontaneous discharges from motor nerve. We report a 65yearold japanese woman with satoyoshi s syndrome of adult onset. Please remove adblock adverts are the main source of revenue for dovemed. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates malabsorption.
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