{"title":"Lowe综合征:OCRL基因新突变的复杂临床诊断","authors":"A. Parikh, P. Gadgil","doi":"10.1055/s-0041-1724042","DOIUrl":null,"url":null,"abstract":"Abstract Lowe syndrome (LS) is a rare X-linked condition having a clinical triad of congenital cataracts, intellectual disability, and progressive tubular nephropathy. Although the easily recognizable symptom complex usually evolves by infancy, a unifying diagnosis is often missed. We present a young boy with a prolonged history of multisystem affection, finally leading to the clinical suspicion of LS. The diagnosis was confirmed on genetic analysis as well as a previously unreported mutation in the OCRL gene was discovered. A 9-year-old boy with intellectual disability and recent onset seizures was referred for the evaluation of rickets. In addition, there was a significant past history of neonatal cataracts, infantile glaucoma, persistent albuminuria, and severe short stature with growth hormone deficiency. The characteristic involvement of eyes, brain, and kidneys along with a family history of a maternal uncle being similarly affected led to the clinical suspicion of LS. A whole exome sequencing was performed, which not only confirmed a nonsense mutation, c.2530C > T, in exon 23 of the Lowe gene (OCRL) but also revealed it to be a novel pathogenic variant. This case highlights the importance of piecing together the different facets of a complex clinical syndrome in reaching a challenging diagnosis. Also, LS must be kept as a differential in any child with neonatal cataracts and intellectual disability. Genetic confirmation of LS in our patient partly relieved the parental anxiety, and the child continued to remain under follow-up with multiple specialists, only now with a definite diagnosis.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":"11 1","pages":"e45 - e48"},"PeriodicalIF":0.3000,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0041-1724042","citationCount":"0","resultStr":"{\"title\":\"Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene\",\"authors\":\"A. Parikh, P. Gadgil\",\"doi\":\"10.1055/s-0041-1724042\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Abstract Lowe syndrome (LS) is a rare X-linked condition having a clinical triad of congenital cataracts, intellectual disability, and progressive tubular nephropathy. Although the easily recognizable symptom complex usually evolves by infancy, a unifying diagnosis is often missed. We present a young boy with a prolonged history of multisystem affection, finally leading to the clinical suspicion of LS. The diagnosis was confirmed on genetic analysis as well as a previously unreported mutation in the OCRL gene was discovered. A 9-year-old boy with intellectual disability and recent onset seizures was referred for the evaluation of rickets. In addition, there was a significant past history of neonatal cataracts, infantile glaucoma, persistent albuminuria, and severe short stature with growth hormone deficiency. The characteristic involvement of eyes, brain, and kidneys along with a family history of a maternal uncle being similarly affected led to the clinical suspicion of LS. A whole exome sequencing was performed, which not only confirmed a nonsense mutation, c.2530C > T, in exon 23 of the Lowe gene (OCRL) but also revealed it to be a novel pathogenic variant. This case highlights the importance of piecing together the different facets of a complex clinical syndrome in reaching a challenging diagnosis. Also, LS must be kept as a differential in any child with neonatal cataracts and intellectual disability. Genetic confirmation of LS in our patient partly relieved the parental anxiety, and the child continued to remain under follow-up with multiple specialists, only now with a definite diagnosis.\",\"PeriodicalId\":41283,\"journal\":{\"name\":\"Journal of Child Science\",\"volume\":\"11 1\",\"pages\":\"e45 - e48\"},\"PeriodicalIF\":0.3000,\"publicationDate\":\"2021-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1055/s-0041-1724042\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Child Science\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0041-1724042\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Child Science","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0041-1724042","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene
Abstract Lowe syndrome (LS) is a rare X-linked condition having a clinical triad of congenital cataracts, intellectual disability, and progressive tubular nephropathy. Although the easily recognizable symptom complex usually evolves by infancy, a unifying diagnosis is often missed. We present a young boy with a prolonged history of multisystem affection, finally leading to the clinical suspicion of LS. The diagnosis was confirmed on genetic analysis as well as a previously unreported mutation in the OCRL gene was discovered. A 9-year-old boy with intellectual disability and recent onset seizures was referred for the evaluation of rickets. In addition, there was a significant past history of neonatal cataracts, infantile glaucoma, persistent albuminuria, and severe short stature with growth hormone deficiency. The characteristic involvement of eyes, brain, and kidneys along with a family history of a maternal uncle being similarly affected led to the clinical suspicion of LS. A whole exome sequencing was performed, which not only confirmed a nonsense mutation, c.2530C > T, in exon 23 of the Lowe gene (OCRL) but also revealed it to be a novel pathogenic variant. This case highlights the importance of piecing together the different facets of a complex clinical syndrome in reaching a challenging diagnosis. Also, LS must be kept as a differential in any child with neonatal cataracts and intellectual disability. Genetic confirmation of LS in our patient partly relieved the parental anxiety, and the child continued to remain under follow-up with multiple specialists, only now with a definite diagnosis.