Nascer e Crescer
ISSN 0872-0754 ISSN 2183-9417
MIRANDA, Ana Margalha et al. Coarse face, hypotonia, and neurodevelopmental regression. []. , 29, 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.
: Coarse facies; developmental regression; Gangliosidosis; hypotonia; lysosomal storage disease.