Acta Scientific Clinical Case Reports

Research Article Volume 2 Issue 1

Dopaminergic Agonists as a Treatment for Dystonia in a Pediatric Patient with RHOBTB2 Epileptic Encephalopathy

Kevin Makhoul1, Peter Makhoul1 and Chadi AL Alam2*

1School of Medicine, University of Massachusetts Medical School, Worcester, United States
2Pediatric and Pediatric Neurology, Haykel Hospital, Tripoli, Lebanon

*Corresponding Author: Chadi AL Alam, Pediatric and Pediatric Neurology, Haykel Hospital, Tripoli, Lebanon.

Received: December 12, 2020; Published: December 28, 2020



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



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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.


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