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.

Downloads

Download data is not yet available.

References

Sutton VR. Inborn errors of metabolism: Epidemiology, pathogenesis, and clinical features. Post TW, ed. UpToDate. Waltham, MA: UpToDate Inc. http://www.uptodate.com (Accessed on May 17, 2018).

Fenton TR, Kim JH. A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants. BMC Pediatrics. 2013; 13:59.

The WHO Child Growth Standards. 2007. (Assessed May 28, 2020). Available at: https://www.who.int/childgrowth/standards/en/

Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects. Molecular Genetics and Metabolism. 2008; 94:391-6.

Erol I, Alehan F, Pourbagher MA, Cana O, Vefa Yildirim S. Neuroimaging findings in infantile GM1 gangliosidosis. European Journal of Paediatric Neurology. 2006; 10:245–8.

Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D. Twenty-one Novel Mutations in the GLB1 Gene Identified in a Large Group of GM1-Gangliosidosisand Morquio B Patients: Possible Common Origin for the Prevalent p.R59H Mutation Among Gypsies. Hum Mutat. 2006; 27:1060.

Silva C, Severini M, Sopelsa A. Six Novel β-Galactosidase Gene Mutations in Brazilian Patients With GM1-Gangliosidosis. Human Mutat. 1999; 13:401-9.

Sandhoff K, Harzer K. Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis. The Journal of Neuroscience. 2013; 33:10195–208.

Caciotti A, Garman SC, Rivera-Colón Y. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta. 2011; 1812:782-90.

Hinek A, Zhang S, Smith AC, Callahan JW.Impaired Elastic-Fiber Assembly by Fibroblasts from Patients with Either Morquio B Disease or Infantile GM1-Gangliosidosis Is Linked to Deficiency in the 67-kD Spliced Variant of b-Galactosidase Am J Hum. Genet. 2000; 67:23–36.

Downloads

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 2025Jan.30];29(2):117-20. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/15184

Issue

Vol. 29 No. 2 (2020)

Section

Case Reports

License

Copyright and Authors' Rights

All articles published in Nascer e Crescer - Birth and Growth Medical Journal are Open Access and comply with the requirements of funding agencies or academic institutions. For use by third parties, Nascer e Crescer - Birth and Growth Medical Journal adheres to the terms of the Creative Commons License "Attribution - Non-Commercial Use (CC-BY-NC)".

It is the author's responsibility to obtain permission to reproduce figures, tables, etc. from other publications.

Authors must submit a Conflict of Interest statement and an Authorship Form with the submission of the article. An e-mail will be sent to the corresponding author confirming receipt of the manuscript.

Authors are permitted to make their articles available in repositories at their home institutions, provided that they always indicate where the articles were published and adhere to the terms of the Creative Commons license.

Most read articles by the same author(s)