Chipongo Hilary, Chaki Samina, Mclarty Ronald
Critical Care Department, Shree Hindu Mandal Hospital, Dar es Salaam, Tanzania.
Pediatrics and Child Health Department, Shree Hindu Mandal Hospital, Dar es Salaam, Tanzania.
Case Rep Neurol. 2024 Aug 9;16(1):226-232. doi: 10.1159/000540799. eCollection 2024 Jan-Dec.
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.
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.
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.
癫痫是撒哈拉以南非洲最常见的神经系统疾病之一，由于资源匮乏，这些病例大多未得到充分诊断。癫痫性脑病是一系列广泛的癫痫发作疾病，其特征是癫痫活动本身对认知和行为功能的损害超过了仅由潜在病理所预期的程度。由CACNA1A基因变异导致的癫痫性脑病治疗极具挑战性，如果不能及时诊断，预后很差。
这是一名7岁的非洲裔男性患者，自婴儿期起就有反复发作癫痫的病史。他一直在服用多种抗惊厥药物，但未能成功控制癫痫发作。尽管服用了抗惊厥药物，该患者在一个月内仍发作超过三次。进行了脑电图（EEG）检查，基因研究显示诊断结果与CACNA1A基因变异相关的癫痫性脑病一致。调整了抗惊厥药物，并按照当前指南建议开始联合使用新药物，每月对患者进行密切随访。
尽管治疗与CACNA1A基因变异相关的癫痫性脑病具有挑战性，但所有开始接受抗癫痫治疗的患者都应密切随访并监测癫痫发作的控制情况。如果仅靠脑电图不能明确诊断，应考虑进行适当的检查，如基因研究。早期诊断对于这类病例的预后至关重要，尤其是在诊断设备稀缺的资源有限环境中。这些地区的所有临床医生对反复癫痫发作的儿科患者都应保持高度怀疑指数，以排除癫痫性脑病。
