Abstract

MIRANDA, Ana Margalha et al. Coarse face, hypotonia, and neurodevelopmental regression. Nascer e Crescer [online]. 2020, vol.29, n.2, pp.117-120. ISSN 0872-0754.  https://doi.org/10.25753/BirthGrowthMJ.v29.i2.15184.

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.

Keywords : Coarse facies; developmental regression; Gangliosidosis; hypotonia; lysosomal storage disease.

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