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Association between Rhabdomyolysis and RHOBTB2 Encephalopathy

Nóbrega Caldeira, Fiona; Freitas, Kaylene; Forno, Andreia; Cardoso, Cátia

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 ...

Date: 2024   |   Origin: SINAPSE
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