Abstract

We present the case of a 22-month-old patient with a heterogenous de novo RHOBTB2 missense variant causing early infantile epileptic encephalopathy (EE) type 64. The patient presented at age 6 months with focal seizures followed by generalized status epilepticus, and he has missed several developmental milestones since infancy. He has also displayed significant intellectual disability, dystonia, microcephaly, and central and peripheral hypotonia. He has had good seizure control. This mutation has previously been identified in 16 EE patients in the literature, but this is the first such diagnosis in Lebanon and the Middle East. The management of infantile EE patients is multifaceted as they present with psychomotor, developmental, and intellectual deficits. One aspect that is particularly challenging to manage is muscle dystonia, and our patient is the first to show significant improvement here with dopaminergic treatment using carbidopa-levodopa.

Keywords: RHOBTB2; Epileptic Encephalopathy; Infantile Encephalopathy; Dystonia; Carbidopa-levodopa

References

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Citation

Citation: Chadi AL Alam., et al. “Dopaminergic Agonists as a Treatment for Dystonia in a Pediatric Patient with RHOBTB2 Epileptic Encephalopathy". Acta Scientific Clinical Case Reports 2.1 (2021): 26-30.

Copyright

Copyright: © 2021 Chadi AL Alam., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.