Author(s): Miranda, A ; Ezequiel, M ; Luis, C ; DupontI, J ; GasparII, P ; Vilarinho, L, et al.
Date: 2020
Persistent ID: http://hdl.handle.net/10400.10/2500
Origin: Repositório do Hospital Prof. Doutor Fernando Fonseca
Subject(s): Child; Facies; Disease progression; Facial expression
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.
