Miranda, Ana MargalhaEzequiel, MartaLuís, CatarinaDupont, JulietteGaspar, PauloVilarinho, LauraJaneiro, PatríciaGaspar, Ana2020-07-142020-07-142020-06-15Nascer e Crescer - Birth and Growth Medical Journal 2020;29(2): 117-120. doi:10.25753/BirthGrowthMJ.v29.i2.15184http://hdl.handle.net/10400.16/2420Inborn 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.engCoarse faciesdevelopmental regressionGangliosidosishypotonialysosomal storage diseasejournal article10.25753/BirthGrowthMJ.v29.i2.151842183-9417