Epileptic Encephalopathy due to CACNA1A Variant: A Case Report and Diagnostic Challenges from Resource-Limited Settings

Abstract

Introduction: Epilepsy is one of the most common neurological disorders present in sub-Saharan Africa and most of these cases are underdiagnosed due to a lack of resources. Epileptic encephalopathies are a broad spectrum of seizure disorders characterized by epileptic activity itself impairing cognitive and behavioral function more than what is expected from the underlying pathology alone. Epileptic encephalopathy resulting from the CACNA1A variant is extremely challenging to treat and prognosis is poor if prompt diagnosis is not made. Case Presentation: This is a 7-year-old male patient of African descent with a history of recurrent seizures since infancy. He has been kept on several anticonvulsants without success to control seizure attacks. The patient had more than three attacks in a single month despite being on anticonvulsants. EEG (electro-encephalography) was done and genetic studies showed a diagnosis consistent with CACNA1A variant-associated epileptic encephalopathy. Anticonvulsants were revised and a combination of new medications as suggested by current guidelines was initiated, and the patient is followed up closely on a monthly basis. Conclusion: Despite being challenging to treat epileptic encephalopathies associated with CACNA1A variants all patients initiated with antiepileptic therapy should be followed closely and monitored for control of seizure attacks. If EEG alone does not point out the diagnosis, appropriate investigations such as genetic studies should be considered. Early diagnosis is crucial for the prognosis of such kind of cases, especially in resource-limited settings where diagnostic equipments are scarce. All clinicians in these areas should have a high suspicion index in pediatric patients with recurrent seizure attacks to rule out epileptic encephalopathies.

Keywords

• epilepsy
• epileptic encephalopathies
• cacna1a variant