What is the diagnosis for a 14-year-old patient presenting with absence seizures and a 3 Hz spike-and-wave discharge on electroencephalogram (EEG)?

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Differential Diagnosis for 14-year-old with Absence Seizure and 3 Hz Spike Wave Discharge

  • Single most likely diagnosis:
    • Typical Absence Epilepsy: This is the most likely diagnosis given the presence of absence seizures and a 3 Hz spike-wave discharge on EEG, which is characteristic of this condition. Typical absence epilepsy is a common form of epilepsy in children and adolescents, often presenting with brief, sudden lapses in consciousness.
  • Other Likely diagnoses:
    • Atypical Absence Epilepsy: Although less common, atypical absence epilepsy could be considered, especially if the seizures are not as stereotypical or if the EEG shows a slower spike-wave discharge. However, the 3 Hz spike-wave discharge is more typical of typical absence epilepsy.
    • Juvenile Myoclonic Epilepsy (JME): JME often presents with myoclonic seizures, but some patients may also have absence seizures. The EEG in JME can show a variety of patterns, including spike-wave discharges, but the clinical context and presence of myoclonic seizures would help differentiate it from typical absence epilepsy.
  • Do Not Miss diagnoses:
    • Idiopathic Generalized Epilepsy with Absence Seizures and Other Seizure Types: It's crucial to consider other forms of generalized epilepsy that may present with absence seizures, as the treatment and prognosis can vary. Missing a diagnosis of a more severe or different form of epilepsy could lead to inappropriate treatment.
    • Metabolic Disorders: Certain metabolic disorders can present with seizures, including absence seizures. Although rare, missing a diagnosis of a metabolic disorder could have significant implications for treatment and outcome.
  • Rare diagnoses:
    • Lennox-Gastaut Syndrome: This is a rare and severe form of epilepsy characterized by multiple seizure types, including atypical absences, and a specific EEG pattern. It's less likely given the specific 3 Hz spike-wave discharge but should be considered if the clinical presentation is atypical or if the patient has other seizure types.
    • Mitochondrial Disorders: Some mitochondrial disorders can present with epilepsy, including absence seizures. These disorders are rare and often have other systemic manifestations, but they should be considered in the differential diagnosis, especially if there are other suggestive clinical features.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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