Carbamazepine-Responsive Chorea in a Toddler with Semilobar Holoprosencephaly: Case Report
Leonardo Ajuz do Prado Oliveira1, Izabela Mara Martins Silveira1, Thiago Ribeiro E Silva1
1Pediatrics Department, Universidade Positivo, Curitiba, Brazil.
Insights
Carbamazepine effectively treated chorea in a child with holoprosencephaly (HPE) and 18p deletion syndrome, offering a new therapeutic option for rare movement disorders in HPE.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Holoprosencephaly (HPE) is a congenital CNS malformation with diverse clinical outcomes.
- Movement disorders, including chorea, are rarely reported in HPE patients.
- Effective treatment strategies for chorea in HPE are not well-established.
Observation:
- A 1-year-old girl with semilobar HPE and 18p deletion developed chorea during hospitalization.
- Initial treatments (haloperidol, clonazepam, valproic acid, trihexyphenidyl) showed limited efficacy or side effects.
- Carbamazepine was introduced and successfully controlled chorea without significant adverse effects.
Findings:
- Carbamazepine demonstrated significant efficacy in managing chorea in a pediatric HPE case.
- This case highlights carbamazepine as a potential treatment for movement disorders in HPE.
- The mechanism may involve sodium channel blockade and effects on dopamine and cholinergic pathways.
Implications:
- This study suggests carbamazepine as a viable therapeutic option for chorea in holoprosencephaly.
- Further research is warranted to explore carbamazepine's role in treating movement disorders associated with HPE.
- This finding could improve clinical management and outcomes for children with HPE and movement abnormalities.
Introduction:
Holoprosencephaly (HPE) is a central nervous system malformation defined by incomplete separation of the prosencephalon in two hemispheres and determines a broad spectrum of clinical presentations based on extension of non-separation.
Case Presentation:
A 1 year and 8 months' old girl with semilobar HPE and 18p deletion syndrome was admitted to our hospital due to viral bronchiolitis. During hospitalization, she started generalized choreic movements, with face dyskinesia and without any identified aggravating factors. Haloperidol, clonazepam, and valproic acid did not achieve an attenuation of the movement disorder. Significant symptom relief was obtained with the use of trihexyphenidyl, with reduced amplitude and frequency of movements, but hyperthermia compromised its use. Control of chorea with no important side effects was only achieved after the introduction of carbamazepine.
Discussion:
Despite significant morbidity, there are few cases described in the literature of chorea and movement disorders in HPE and no effective treatment strategies described. Carbamazepine is an antiepileptic drug that stabilizes voltage-gated sodium channels and is the most effective treatment for paroxysmal kinesigenic dyskinesia. Although it has been used successfully in the treatment of different movement disorders, few therapeutic trials have been reported. The mechanism by which carbamazepine alleviates chorea is still unknown but may be justified through the blocking of post-synaptic dopamine receptors and stimulation of cholinergic pathways.
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