期刊名称：Nascer e Crescer - Revista do Hospital de Crianças Maria Pia
印刷版ISSN：0872-0754
出版年度：2020
卷号：29
期号：2
页码：117-120
DOI：10.25753/BirthGrowthMJ.v29.i2.15184
出版社：Hospital de Crianças Maria Pia - Centro Hospitalar do Porto
摘要：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.
关键词：Doença lissosomal de sobrecarga;face grosseira;Gangliosidose;hipotonia;regressão do desenvolvimento
