Association between Rhabdomyolysis and RHOBTB2 Encephalopathy

• Autor(a) principal: Nóbrega Caldeira, Fiona
• Data de Publicação: 2024
• Outros Autores: Freitas, Kaylene, Forno, Andreia, Cardoso, Cátia
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://doi.org/10.46531/sinapse/CC/240002/2024
• topic: Brain Diseases; Child; GTP-Binding Proteins/genetics; Rhabdomyolysis; Criança; Encefalopatias; Proteínas de Ligação ao GTP/ genética; Rabdomiólise

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.