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Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach
Lubov Blumkin1,2,3,4, Tally Lerman-Sagie2,3,4, Ana Westenberger5
1Pediatric Movement Disorders Clinic, Wolfson Medical Center, Holon, Israel.
Insights
This study identifies genetic causes of early-onset chorea in children with normal brain imaging. Genetic testing, including whole-exome sequencing, is crucial for diagnosing these rare movement disorders.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
- Movement Disorders
Background:
- Early-onset chorea in children presents a diagnostic challenge, particularly with normal neuroimaging.
- Identifying the underlying genetic etiology is critical for accurate diagnosis and management.
Observation:
- This study retrospectively analyzed pediatric patients with hyperkinetic movement disorders presenting as chorea before age three.
- Patients with abnormal MRI or EEG findings were excluded to focus on idiopathic cases.
- Clinical examination and video analysis were used to characterize the movement disorder phenotype.
Findings:
- Four pediatric patients with early-onset chorea and normal neuroimaging were diagnosed.
- Genetic diagnoses included mutations in NKX2.1, OPA3, ADCY5, and GNAO1.
- Clinical presentations varied, with some cases associated with developmental delay, facial twitches, or nocturnal dyskinetic attacks.
Implications:
- A detailed clinical and genetic approach is essential for diagnosing pediatric early-onset chorea.
- Multigene panels or whole-exome sequencing are recommended when a single gene cannot be suspected.
- Understanding the genetic basis aids in prognosis and potential therapeutic strategies.
Objective:
This article elucidates a clinical and genetic approach to pediatric early-onset chorea in patients with normal neuroimaging.
Methods:
We retrospectively studied patients with onset hyperkinetic movement disorders. Only children with onset of chorea in the first 3 years of life were included, those with an abnormal magnetic resonance imaging (MRI) or electroencephalogram (EEG) were excluded.We studied the movement disorder phenotype by clinical examination and by interpretation of videos and compared our data to the literature.
Results:
Four patients, aged 2 to 13 years, were diagnosed. Abnormal involuntary movements appeared between the ages of 6 months to 3 years in association with developmental delay. One patient has a close relative with NKX2.1-related chorea. One patient is from Iraqi-Jewish origin. Facial twitches and nocturnal dyskinetic attacks were observed in one.The unique clinical presentation and family history enabled genetic diagnosis by molecular analysis of a specific mutation in two (NKX2.1, OPA3) and Sanger sequencing of a target gene in one (ADCY5). One patient was diagnosed by whole-exome sequencing (WES) (GNAO1).
Conclusion:
By carefully recording the phenotype and genetic background, a single gene can be suspected in some cases. In the rest, we suggest multigene panels or WES study.
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