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A Case of KCNQ2-Associated Movement Disorder Triggered by Fever
Radhika Dhamija1, Howard P Goodkin2, Russell Bailey2
11 Department of Clinical Genomics and Neurology, Mayo Clinic, Phoenix, AZ, USA.
Abstract:
The differential diagnosis of fever-induced movement disorders in childhood is broad. Whole exome sequencing has yielded new insights into those cases with a suspected genetic basis. We report the case of an 8-year-old boy with a history of neonatal seizures who presented with near-continuous hyperkinetic movements of his limbs during a febrile illness. Initial diagnostic testing did not explain his abnormalities; however, given the suspicion for a channelopathy, whole exome sequencing was performed and it demonstrated a de novo pathogenic heterozygous variant in KCNQ2. There is an expanding phenotypic spectrum of heterozygous alterations in KCNQ2; however, this report provides the first description of a pathogenic KCNQ2 variant fever-induced hyperkinetic movement disorder in childhood. We also review the literature of cases previously published with the same pathogenic variant.
Insights
A genetic variant in KCNQ2 causes fever-induced hyperkinetic movement disorder in children. This discovery expands the known KCNQ2 channelopathy spectrum and aids in diagnosing rare childhood neurological conditions.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Fever-induced movement disorders in children have a wide differential diagnosis.
- Whole exome sequencing (WES) is crucial for identifying genetic causes of unexplained neurological conditions.
Observation:
- An 8-year-old boy with neonatal seizures developed severe hyperkinetic movements during a febrile illness.
- Standard diagnostic tests were inconclusive, prompting suspicion of a channelopathy.
Findings:
- Whole exome sequencing revealed a de novo pathogenic heterozygous variant in the KCNQ2 gene.
- This is the first reported case of a KCNQ2 variant causing fever-induced hyperkinetic movement disorder in childhood.
Implications:
- This finding expands the phenotypic spectrum associated with heterozygous KCNQ2 alterations.
- Highlights the importance of genetic testing, specifically WES, for diagnosing rare pediatric movement disorders.
- Contributes to understanding KCNQ2 channelopathies and their diverse clinical presentations.
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