Coarse face, hypotonia, and neurodevelopmental regression

Authors

  • Ana Margalha Miranda Department of Pediatrics, Hospital Prof. Doutor Fernando Fonseca
  • Marta Ezequiel Department of Pediatrics, Hospital Prof. Doutor Fernando Fonseca
  • Catarina Luís Department of Pediatrics, Hospital Prof. Doutor Fernando Fonseca
  • Juliette Dupont Department of Genetic, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte
  • Paulo Gaspar Metabolism and Genetic Unit, Department of Human Genetic, Instituto Nacional de Saúde Dr. Ricardo Jorge
  • Laura Vilarinho Metabolism and Genetic Unit, Department of Human Genetic, Instituto Nacional de Saúde Dr. Ricardo Jorge
  • Patrícia Janeiro Reference Centre of Inherited Metabolic Diseases, Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte
  • Ana Gaspar Reference Centre of Inherited Metabolic Diseases, Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v29.i2.15184

Keywords:

Coarse facies, developmental regression, Gangliosidosis, hypotonia, lysosomal storage disease

Abstract

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.

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References

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Published

2020-06-26

How to Cite

1.
Miranda AM, Ezequiel M, Luís C, Dupont J, Gaspar P, Vilarinho L, Janeiro P, Gaspar A. Coarse face, hypotonia, and neurodevelopmental regression. REVNEC [Internet]. 2020Jun.26 [cited 2024Apr.24];29(2):117-20. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/15184

Issue

Vol. 29 No. 2 (2020)

Section

Case Reports

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