Browsing by Author "Gaspar, Ana"
Now showing 1 - 1 of 1
Results Per Page
Sort Options
- Coarse face, hypotonia, and neurodevelopmental regressionPublication . Miranda, Ana Margalha; Ezequiel, Marta; Luís, Catarina; Dupont, Juliette; Gaspar, Paulo; Vilarinho, Laura; Janeiro, Patrícia; Gaspar, AnaInborn 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.