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Jervell and Lange-Nielson Syndrome masquerading as intractable epilepsy
Jagdish P Goyal1, Alka Sethi, V B Shah
1Department of Pediatrics, Govt. Medical College, Surat, Gujarat, India.
Annals of Indian Academy of Neurology
|May 9, 2012
Summary
Jervell and Lange-Nielson syndrome (JLNS), a rare form of long QT syndrome (LQTS), can present as refractory epilepsy. Early diagnosis and β-blocker treatment improved patient outcomes and family member cardiac health.
Area of Science:
- Cardiology
- Genetics
- Neurology
Background:
- Long QT syndrome (LQTS) is a critical cardiac condition linked to syncope and sudden death.
- Jervell and Lange-Nielson syndrome (JLNS) is a rare, autosomal recessive variant of LQTS characterized by congenital deafness.
Observation:
- A pediatric case of JLNS presented with refractory epilepsy, with seizures accompanied by hypotension and pulselessness, suggesting a cardiac etiology.
- Diagnosis of JLNS was confirmed using Schwartz criteria for LQTS and the presence of congenital sensorineural deafness.
Findings:
- The child with JLNS responded favorably to beta-blocker therapy, leading to the discontinuation of antiepileptic drugs.
- ECG screening of family members revealed prolonged QT intervals, indicative of LQTS, despite their asymptomatic status.
- Prophylactic metoprolol treatment in asymptomatic family members resulted in significant improvement, including QT interval reduction on ECG.
Implications:
- This case highlights the importance of considering cardiac causes, specifically JLNS, in pediatric patients with refractory epilepsy.
- Early diagnosis and prompt management with beta-blockers are crucial for improving outcomes in JLNS patients.
- Prophylactic treatment in at-risk family members can prevent cardiac events and manage subclinical LQTS.
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