Síndrome de Satoyoshi: Enfermedad multisistémica con respuesta exitosa a tratamiento esteroidal

Castiglioni, Claudia; Dı́az, Alejandra; Möenne, Karla; Mericq, Verónica; Salvador, Fernando; Hernández, Carlos

doi:10.4067/s0034-98872009000400013

Cited by 5 publications

(23 citation statements)

References 17 publications

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“…A total of 56 publications describing 67 cases of SS were found; 39 (58.2%) cases described digestive manifestations [1,2,[4][5][6][7][8] (Table 1). The cases that were described across several publications were counted as one single case, and the data provided by the additional publications were pooled together to complete their description [33][34][35][36][37].…”

Section: Main Textmentioning

confidence: 99%

“…Thirty-two patients (82%) were under 18 years of age at onset of disease. In 10 cases, the digestive symptoms were part of the manifestation of disease onset [1,2,7,8,13,15,19,31], together with muscular spasms. Thirty-two of the patients were women (82%).…”

Section: Epidemiological Datamentioning

confidence: 99%

“…The diarrhea of patients with SS is of a chronic nature, although not necessarily continuous; in fact, it may present as recurrent episodes [13,22]. The number of daily stools was between 2 [27] and10 [2]. It was reported that foods with high carbohydrate content could trigger an episode of diarrhea [19].…”

Section: Gastrointestinal Clinical Featuresmentioning

confidence: 99%

“…Satoyoshi syndrome (SS) [OMIM 600705; ORFHA 3130] is a multisystemic disease, characterized by muscle manifestations in the form of painful spasms or cramps, diarrhea, alopecia, skeletal alterations, growth retardation and menstrual abnormalities [1]. The association of this syndrome with other autoimmune pathologies, the detection of autoantibodies in these patients and their response to immunosuppressive treatment, has led to postulate its autoimmune origin [2,3].…”

Section: Introductionmentioning

confidence: 99%

“…Among the most typical features of the syndrome is diarrhea [4]. Chronic diarrhea and malabsorption can lead to malnutrition, weight loss, growth retardation [2], iron-deficiency anemia [5] or hypoproteinemia [6]. Untreated diarrhea has been described as one of the leading causes of morbidity and mortality in patients with SS [1].Diarrhea with signs of malabsorption, weight loss or growth retardation, and the detection of autoantibodies, are present in SS and other diseases such as celiac disease, tropical sprue or autoimmune enteropathy.…”

Section: Introductionmentioning

confidence: 99%

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Gastrointestinal manifestations in Satoyoshi syndrome: a systematic review

Pozo

Cabo

Solera

2020

Orphanet J Rare Dis

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Background: Satoyoshi syndrome (SS) [OMIM 600705; ORFHA 3130] is a multisystemic disease with a probable autoimmune basis, whose main symptoms are muscle spasms, alopecia, diarrhea and skeletal alterations. Chronic diarrhea may be severe and result in malnutrition, anemia, growth retardation, cachexia, disability and even death. However, to date, no review of the digestive symptoms has been carried out. Methods: A search was performed in MEDLINE, Scopus and Web of Science databases. Cases of SS, without language or date restrictions, were recorded. Sixty-seven cases of SS were found up until December 2019. Thirtynine cases described gastrointestinal manifestations. Results: Chronic diarrhea was the main digestive symptom (92.3%). Other symptoms such as abdominal pain (15.4%), nausea (7.7%) and vomiting (7.7%), were less frequent. The D-xylose test was positive in 10 out of 12 patients, and 9 out of 13 cases showed a flattened oral glucose tolerance test suggesting carbohydrate malabsorption. Antinuclear antibodies were detected in 8 out of 16 cases. Antibodies to stomach or duodenum tissue lysates were also detected by Western blot. Histological data revealed predominantly lymphoplasmacytic inflammatory infiltrate that can affect any section of the digestive tract. In 6 out of 10 patients, diarrhea improved with a treatment regimen that included corticosteroids. Other treatments, such as methotrexate, carbohydrate restricted diets or otilonium bromide, improved digestive symptoms in isolated patients. Improvement of symptoms up to three years of follow-up has been described. None of the three patients who died had received corticosteroids or immunosuppressants. Conclusion: Chronic diarrhea with malabsorption is one of the most disabling symptoms in SS. The early recognition of this disease is essential for immunosuppressive treatment and a better outcome.

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Section: Main Textmentioning

confidence: 99%

Section: Epidemiological Datamentioning

confidence: 99%

Section: Gastrointestinal Clinical Featuresmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Gastrointestinal manifestations in Satoyoshi syndrome: a systematic review

Pozo

Cabo

Solera

2020

Orphanet J Rare Dis

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Is Satoyoshi syndrome an autoimmune disease? A systematic review

et al. 2023

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Objectives Satoyoshi syndrome (SS) is a rare multisystem disease of presumed autoimmunea aetiology. We carried out a systematic review to evaluate the available evidence to support that autoimmune hypothesis. Methods We searched for SS cases in PubMed, the Web of Knowledge and Scopus up to January 2022, using keywords “Satoyoshi syndrome” or “Komuragaeri disease”. Data on symptoms, associated autoimmune diseases, presence of autoantibodies and response to treatment were collected. Results 77 patients from 57 articles published between 1967 and 2021 were included. 59 patients were women. The mean age at diagnosis was 21.2 years. All cases had painful muscular spasms and alopecia. Frequent manifestations included: diarrhoea, malabsorption, growth retardation, amenorrhea and bone deformity. SS was associated with other autoimmune diseases: myasthenia gravis, autoimmune thyroiditis, idiopathic thrombocytopenic purpura, atopic dermatitis, bronchial and lupus erythematosus. Autoantibody determinations were performed in 39 patients, of which 27 had positive results. The most frequently detected autoantibodies were antinuclear antibodies. Other less frequently found auto-antibodies were: anti-acetylcholine receptor antibodies, anti-DNA antibodies, antithyroid antibodies, anti-GAD and anti-gliadin antibodies. Pharmacological treatment was reported in 50 patients. Most of them improved with corticosteroids, immunosuppressants and immunoglobulins, or a combination of these medications. Conclusion SS is associated with other autoimmune diseases and a variety of autoantibodies. Improvement after corticosteroid or other immunosuppressant treatment was observed in 90% of cases. These data support an autoimmune aetiology for SS. More studies including systematic determination of autoantibodies in all patients with SS will help us advance in our understanding of this disease.

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Impending central retinal vein occlusion and granulomatous uveitis in a patient with Satoyoshi syndrome

et al. 2023

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Rationale: Satoyoshi syndrome is a rare systemic autoimmune disease that presents with painful muscle spasms. We report a case of impending central retinal vein occlusion (CRVO) secondary to granulomatous pan-uveitis in a 32-year-old woman with Satoyoshi syndrome. Patient concerns: At the age of 7 years, she developed generalized hair loss and painful spasms and was diagnosed with Satoyoshi syndrome. Her current symptoms included sudden metamorphopsia and decreased visual acuity in the left eye. She visited our hospital with extensive intraretinal hemorrhage (including the macula), meandering of the retinal veins, and swelling of the optic disc. Fluorescence fundus angiography demonstrated hyper fluorescence of the optic disc and leakage from the retinal veins, suggesting CRVO associated with optic papillitis and segmental periphlebitis. Diagnoses: In the left eye, there were 2 + cells in the anterior chamber and 1 + in the anterior vitreous. Interventions: We increased the existing dose of prednisolone for the treatment of uveitis and started her on oral aspirin and kallidinogenase for CRVO. Outcomes: The impending CRVO gradually subsided, and her visual acuity improved. However, during the subsequent treatment course, angle nodules were observed in the left eye, and the intraocular pressure (IOP) gradually increased. Although the angled nodules disappeared with topical corticosteroid treatment, the IOP did not reduce and became uncontrolled. Therefore, we performed trabeculotomy first, followed by trabeculectomy, after which the IOP decreased to approximately 10 mm Hg. Lessons: Unilateral granulomatous pan-uveitis and impending CRVO were observed in this patient. Several cases of Satoyoshi syndrome complicated by various autoimmune or immunological disorders have been reported. However, to the best of our knowledge, no reports of Satoyoshi syndrome presenting with uveitis or CRVO have been published. Physicians should consider uveitis as a complication of Satoyoshi syndrome.

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Síndrome de Satoyoshi: Enfermedad multisistémica con respuesta exitosa a tratamiento esteroidal

Cited by 5 publications

References 17 publications

Gastrointestinal manifestations in Satoyoshi syndrome: a systematic review

Gastrointestinal manifestations in Satoyoshi syndrome: a systematic review

Is Satoyoshi syndrome an autoimmune disease? A systematic review

Impending central retinal vein occlusion and granulomatous uveitis in a patient with Satoyoshi syndrome

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