Coarse face, hypotonia, and neurodevelopmental regression

Miranda, Ana Margalha; Ezequiel, Marta; Luís, Catarina; Dupont, Juliette; Gaspar, Paulo; Vilarinho, Laura; Janeiro, Patrícia; Gaspar, Ana

http://hdl.handle.net/10400.16/2420

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Authors

Miranda, Ana Margalha

Abstract(s)

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.