ObjectiveTo explore the efficacy of ketogenic diet on developmental and epileptic encephalopathy caused by PIGA gene mutation. Method A retrospective analysis was conducted on patients with developmental and epileptic encephalopathy admitted to Guangdong Sanjiu Brain Hospital from March 2016 to June 2020. Patients with positive PIGA gene mutations were selected, and their clinical characteristics and treatment effects were analyzed. ResultA total of 6 epilepsy patients with positive PIGA gene mutations were collected, all of whom were male. 5 cases were heterozygous mutations originating from the mother, and 1 case was a new mutation. All 6 patients were accompanied by varying degrees of psychomotor developmental delay, various types of epileptic seizures, multifocal discharge on EEG, and varying degrees of brain hypoplasia indicated by cranial MRI. All 6 patients met the criteria for drug-resistant epilepsy and were recommended to undergo ketogenic diet treatment, but three patients were discontinued in the early stages. Among them, Case 3 experienced hyperlipidemia on the fifth day of ketogenic diet and was discontinued, while Case 5 experienced transient hypoglycemia on the second day and the family refused to use it. Case 6: After one week of ketogenic diet, the family members voluntarily stopped using it. Only three patients adhered to a long-term ketogenic diet for more than 2 years. The efficacy of ketogenic diet treatment in cases 1 and 4 was very significant, reaching a seizure free state. Case 2 showed a 50% reduction in seizure frequency after ketogenic diet treatment. Case 4 developed hyperlipidemia after two years of ketogenic diet, and after discontinuing the ketogenic diet for about two months, the blood lipids returned to normal. Comparing patients in the ketogenic group with those in the non ketogenic group, it was found that the ketogenic group had a clear therapeutic effect after treatment. Among them, two patients had no seizures for more than a year and showed significant progress in development compared to before. Two years after ketogenic diet treatment, the EEG showed a significant decrease or disappearance of epileptic discharge compared to before. ConclusionPatients with developmental latency caused by PIGA gene mutations have an early only age, diverse types of sizes, varying degrees of psychomotor developmental delay, and some are compatible by von as possible.
ObjectiveThe study aimed to investigate the clinical characteristics of epilepsy patients with DEPDC5 mutation, and to improve the understanding of familial hereditary focal epilepsy.MethodsThree families with familial hereditary focal epilepsy were enrolled in this study from September 2014 to September 2017 at the Sanjiu Brain Hospital of Guangdong Province. Epilepsy-related gene in peripheral blood was detected by the second generation sequencing. The medical history, family history, magnetic resonance imaging, electroencephalo-groph, treatment programs and other data were collected and aralyzed.ResultsThere were 8 patients in the three families, seizures of whom originate mostly from the frontal or temporal lobe. Cognitive function and other system function was basically normal fron patients treated with antiepilepsy drugs.ConclusionsThe mutations of DEPDC5 gene are common in familial hereditary focal epilepsy, which leads to the main clinical symptom of complex partial seizure. Antiepilepsy drug therapy is effective to most patients. However, to those drug resistant patients, prognosis can improved by surgical treatment.
ObjectiveTo improve the understanding of clinicians by reports and literature review of patients with rare diseases of Menkes disease.MethodsHigh-throughput sequencing and Sanger sequencing were used to verify the genes of epilepsy, and the mutations were verified in three probands and two parents. The patient's clinical manifestations, EEG, imaging, gene and prognostic characteristics were analyzed.ResultsAll the three patients developed onset in infancy, with hair thinning and curling, and various forms of seizures. Three patients had epileptiform discharges during the EEG interval, and all clinical seizures were recorded. Skull MR showed white matter long T1, long T2 abnormal signal, cerebral artery tortuosity, proband 3 appeared subdural effusion. Three patients had poor efficacy after taking anti-epileptic drugs. The proband one and the proband two did not show significant progress after using histidine copper, but could not alleviate the existing neurological damage.ConclusionMenkes disease occurs frequently in infants, clinical manifestations may be different, some clinical manifestations may be atypical, and currently it is an incurable disease, but the use of histidine copper in the neonatal period can improve survival and reduce nervous system injury. It should be diagnosed early. and the treatment of indications should not be guided by the patient's genotype.