Zhong L1 , Zhang Y2 , Fang X3 , Zhu F4 and Zhenzhong Z4*
1The Second Clinical Medical College, Zhejiang Chinese Medical University, China 2Department of Traditional Chinese Medicine, Tongde Hospital of Zhejiang Province, China 3Department of Encephalopathy, Zhangzhou Hospital of Traditional Chinese Medicine, Fujian Province, China 4Department of Neurology, Tongde Hospital of Zhejiang Province, ChinaFulltext PDF
Purpose: EPM2A has been shown to be the causative gene in patients with Lafora Disease (LD), a rare autosomal recessive disorder. LD most often develops in adolescence and is characterized by myoclonic epileptic seizures. It usually presents with intractable seizures, rapidly progressive dementia and vegetative state, and even death within 10 years. LD used to be particularly common in Mediterranean countries, but has been increasingly reported in the literature in Asian countries year by year. Here, we report a case of a patient with LD carrying the EPM2A gene, which presents as a novel whole code deletion mutation, while the causative gene was detected in all of his family members. Methods: The patient's past and family histories were carefully questioned and routine ancillary tests such as routine blood, biochemical, cranial MR, video EEG, etc. were performed. Result: The patient had a past history of epilepsy and currently presented with intractable epilepsy and progressive cognitive decline, while the patient's sister also had a history of epilepsy, and the effect of traditional antiepileptic medication was not apparent in them. Through genetic testing, the patient's family members were found to carry the LD gene, and the diagnosis of LD was confirmed. Conclusion: In patients with a previous history of epilepsy and a family member with a similar disorder, it is essential that we take genetic testing measures. Early diagnoses can provide more accurate treatment for LD patients while reducing psychological stress in the family. We hope that by reporting a new case of LD patient with a mutation in a gene fragment, we can provide a reference for similar cases encountered in the future.
Zhong L, Zhang Y, Fang X, Zhu F, Zhenzhong Z. Family Members Carry the Disease-Causing Gene in a Patient with a Novel Whole-Code Gene Mutation in LD: A Case Report. Neurol Case Rep. 2022;5(2):1035.