Pub Date : 2023-06-03DOI: 10.46439/casereports.1.002
M. Zicheng, Gao Xinxiao, Zhu Siquan
We present a case of late-onset eye manifestations in a Chinese girl of 18 years old with sporadic BS, presenting only mild eye inflammation. We performed comprehensive ocular examinations including fluorescein fundus angiography (FFA) and indocyanine green angiography (ICG) for her. The oral hormone plus local anti-inflammatory eye drops have well controlled the inflammation of her eyes.
{"title":"Late-onset panuveitis in a Chinese girl with sporadic Blau syndrome: A case report","authors":"M. Zicheng, Gao Xinxiao, Zhu Siquan","doi":"10.46439/casereports.1.002","DOIUrl":"https://doi.org/10.46439/casereports.1.002","url":null,"abstract":"We present a case of late-onset eye manifestations in a Chinese girl of 18 years old with sporadic BS, presenting only mild eye inflammation. We performed comprehensive ocular examinations including fluorescein fundus angiography (FFA) and indocyanine green angiography (ICG) for her. The oral hormone plus local anti-inflammatory eye drops have well controlled the inflammation of her eyes.","PeriodicalId":140770,"journal":{"name":"Journal of Case Reports and Clinical Studies","volume":"80 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123221652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-05-09DOI: 10.46439/casereports.1.001
D. Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian
Background: Glycogen storage disease type 1a (GSD-1a) is the most common form of GSDs, accounting for 80% of these cases. Here we present a 16-month-old boy being treated for GSD-1a at our clinic. Case presentation: Given that the patient was not examined and diagnosed prior to referral to our clinic, mitochondrial disease due to developmental delay, high lactate levels, and lack of hypoglycemia was treated first. Given the fact that the patient’s clinical presentation could not be justified by repeat testing, DNA analysis showed evidence in favor of glucose-6-phosphatase deficiency. The result of the genetic analysis reported a known mutation of c.G193C (P.A65P). Conclusion: Because of the prevalence of this disease, GSD-1a should be considered in children with unexplained hypoglycemia and/or hepatomegaly. Proper metabolic control and prohibition of hypoglycemia should aim to reach the desired point.
{"title":"Report of an Iranian child with developmental motor delay and renal and hepatic complications diagnosed as a Glycogen storage disease type 1a: A case report","authors":"D. Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian","doi":"10.46439/casereports.1.001","DOIUrl":"https://doi.org/10.46439/casereports.1.001","url":null,"abstract":"Background: Glycogen storage disease type 1a (GSD-1a) is the most common form of GSDs, accounting for 80% of these cases. Here we present a 16-month-old boy being treated for GSD-1a at our clinic.\u0000\u0000Case presentation: Given that the patient was not examined and diagnosed prior to referral to our clinic, mitochondrial disease due to developmental delay, high lactate levels, and lack of hypoglycemia was treated first. Given the fact that the patient’s clinical presentation could not be justified by repeat testing, DNA analysis showed evidence in favor of glucose-6-phosphatase deficiency. The result of the genetic analysis reported a known mutation of c.G193C (P.A65P).\u0000\u0000Conclusion: Because of the prevalence of this disease, GSD-1a should be considered in children with unexplained hypoglycemia and/or hepatomegaly. Proper metabolic control and prohibition of hypoglycemia should aim to reach the desired point.","PeriodicalId":140770,"journal":{"name":"Journal of Case Reports and Clinical Studies","volume":"28 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133972661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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