Author(s): Miranda, Ana Margalha ; Ezequiel, Marta ; Luís, Catarina ; Dupont, Juliette ; Gaspar, Paulo ; Vilarinho, Laura ; Janeiro, Patrícia ; Gaspar, Ana
Date: 2020
Persistent ID: http://hdl.handle.net/10400.16/2420
Origin: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
Subject(s): Coarse facies; developmental regression; Gangliosidosis; hypotonia; lysosomal storage disease
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.
