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Hyperekplexia: A forgotten diagnosis clinched by next-generation sequencing
Meenakshi Lallar1, Anukool Srivastava1, Shubha R Phadke1
1Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Hyperekplexia, a rare neurological disorder, causes neonatal stiffness and exaggerated startle reflexes. Next-generation sequencing aided diagnosis in two siblings misdiagnosed with seizures.
Area of Science:
- Neurology
- Genetics
- Neonatology
Background:
- Hyperekplexia is a rare, inherited neurological disorder presenting in early infancy.
- Characterized by neonatal-onset stiffness and an exaggerated startle reflex, it can be misdiagnosed as seizures.
- Potential life-threatening apneic episodes underscore the need for accurate diagnosis.
Observation:
- Two female siblings presented with symptoms mimicking seizures.
- They were treated with multiple antiepileptic medications.
- Clinical presentation suggested hyperekplexia.
Findings:
- Next-generation sequencing (NGS) facilitated the diagnosis of hyperekplexia.
- NGS has become a valuable tool for diagnosing rare genetic disorders.
- The siblings' condition was confirmed through genetic analysis.
Implications:
- Early and accurate diagnosis of hyperekplexia is crucial for appropriate management.
- NGS offers a powerful method for identifying the genetic basis of hyperekplexia.
- Improved diagnostic approaches can prevent misdiagnosis and guide treatment for affected infants.
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