Association between Rhabdomyolysis and RHOBTB2 Encephalopathy

Authors

  • Fiona Nóbrega Caldeira Serviço de Pediatria / Hospital Dr. Nélio Mendonça, Funchal, Madeira, Portugal https://orcid.org/0009-0005-5698-9377
  • Kaylene Freitas Serviço de Pediatria / Hospital Dr. Nélio Mendonça, Funchal, Madeira, Portugal
  • Andreia Forno Serviço de Pediatria / Hospital Dr. Nélio Mendonça, Funchal, Madeira, Portugal
  • Cátia Cardoso Serviço de Pediatria / Hospital Dr. Nélio Mendonça, Funchal, Madeira, Portugal

DOI:

https://doi.org/10.46531/sinapse/CC/240002/2024

Keywords:

Brain Diseases, Child, GTP-Binding Proteins/genetics, Rhabdomyolysis

Abstract

First described in 2018, heterozygous variants of the RHOBTB2 gene, affect the translation of a Rho GTPase protein, essential in neuronal development and synaptic plasticity. The few cases described are characterized by a clinical spectrum of epileptic encephalopathy, psychomotor and cognitive delay, microcephaly, nonspecific facial dysmorphism and movement disorder.

We report a case of a female child, who had two seizures at 28 days of age. She exhibited a normal psychomotor development, until she had another seizure at 6 months, after which she started showing a movement disorder, followed by impair- ment of psychomotor development. Amongst the multiple hospitalizations, one of them was due to status epilepticus with severe rhabdomyolysis. At the age of 7, by ex- ome sequencing, a de novo pathogenic variant was identified in the RHOBTB2 gene.

Although the main characteristics of this syndrome have been described in previous studies, its possible relation with rhabdomyolysis has never been reported.

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References

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Published

2024-06-05

How to Cite

1.
Nóbrega Caldeira F, Freitas K, Forno A, Cardoso C. Association between Rhabdomyolysis and RHOBTB2 Encephalopathy. Sinapse [Internet]. 2024 Jun. 5 [cited 2024 Jul. 22];. Available from: https://sinapse.pt/index.php/journal/article/view/89

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Section

Case Reports