# Jervell and Lange-Nielsen Syndrome Manifesting as Seizure-Like Episodes in Childhood

## TL;DR

A child with seizure-like episodes was diagnosed with a rare heart condition causing deafness and long QT interval, highlighting the importance of early diagnosis to prevent sudden cardiac death.

## Contribution

This case emphasizes the diagnostic challenge of Jervell and Lange-Nielsen syndrome mimicking epilepsy and underscores the importance of ECG and clinical evaluation for timely intervention.

## Key findings

- JLNS can present with seizure-like episodes due to arrhythmia-induced cerebral hypoperfusion.
- Early diagnosis through ECG and clinical evaluation is critical to prevent sudden cardiac death.
- Distinguishing features include brief episodes, syncope before convulsions, and family history of LQTS or sudden death.

## Abstract

Jervell and Lange-Nielsen syndrome (JLNS) is a rare autosomal recessive form of congenital long QT syndrome (LQTS) characterized by prolonged QT interval and congenital bilateral sensorineural deafness. We report the case of an eight-year-old boy with recurrent convulsions and syncope, unresponsive to antiseizure treatment. He had a history of congenital bilateral sensorineural deafness and the sudden death of a sister. His ECG revealed a markedly prolonged QT interval of 680 ms (corrected QT interval: 650 ms). A diagnosis of JLNS was made, and propranolol was initiated. The parents were counseled on avoiding emotional and physical triggers and referred for consideration of an implantable cardioverter-defibrillator. JLNS can mimic epilepsy caused by arrhythmia-induced cerebral hypoperfusion, leading to convulsions. Such episodes can be distinguished from epilepsy by their brief duration, syncope preceding convulsions, and a family history of LQTS or sudden unexplained death. This case highlights the need for a high index of suspicion in such cases, as early diagnosis through detailed history, ECG, and clinical evaluation, even without genetic confirmation, is lifesaving and essential to reduce the risk of sudden cardiac death.