A. Miranda, M. Ezequiel, C. Luís, J. Dupont, Paulo Gaspar, L. Vilarinho, P. Janeiro, A. Gaspar
{"title":"面部粗糙、肌张力减退和神经发育退化","authors":"A. Miranda, M. Ezequiel, C. Luís, J. Dupont, Paulo Gaspar, L. Vilarinho, P. Janeiro, A. Gaspar","doi":"10.25753/BIRTHGROWTHMJ.V29.I2.15184","DOIUrl":null,"url":null,"abstract":"Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected.The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age of five months, along with progressive onset of facial dysmorphism, hepatomegaly, seizures, and dilated cardiomyopathy. Gangliosidosis type 1 diagnosis was confirmed by biochemical, enzymatic, and genetic findings.This report enhances the relevance of multidisciplinary approach and follow-up.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"29 1","pages":"117-120"},"PeriodicalIF":0.0000,"publicationDate":"2020-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Coarse face, hypotonia, and neurodevelopmental regression\",\"authors\":\"A. Miranda, M. Ezequiel, C. Luís, J. Dupont, Paulo Gaspar, L. Vilarinho, P. Janeiro, A. Gaspar\",\"doi\":\"10.25753/BIRTHGROWTHMJ.V29.I2.15184\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected.The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age of five months, along with progressive onset of facial dysmorphism, hepatomegaly, seizures, and dilated cardiomyopathy. Gangliosidosis type 1 diagnosis was confirmed by biochemical, enzymatic, and genetic findings.This report enhances the relevance of multidisciplinary approach and follow-up.\",\"PeriodicalId\":31313,\"journal\":{\"name\":\"Nascer e Crescer\",\"volume\":\"29 1\",\"pages\":\"117-120\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-06-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nascer e Crescer\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I2.15184\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nascer e Crescer","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I2.15184","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Coarse face, hypotonia, and neurodevelopmental regression
Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected.The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age of five months, along with progressive onset of facial dysmorphism, hepatomegaly, seizures, and dilated cardiomyopathy. Gangliosidosis type 1 diagnosis was confirmed by biochemical, enzymatic, and genetic findings.This report enhances the relevance of multidisciplinary approach and follow-up.