ObjectiveTo clarify the characteristic of secondary cerebral amyloidoma which is relapsing in one year after seven years gamma knife radiosurgery and review relevant literature.MethodsTo analyze the clinical manifestation, preoperative and postoperative MRI imaging, inter-ictal and ictal electroencephalogram (EEG) and histopathological evaluation.ResultsThe patient suffered from epilepsy (mainly autonomic seizure and global tonic-clonic seizure) at the age of 22 and took a gamma knife radiosurgery for right medial temporal epilepsy as the refractory seizures occurred at the age of 36. In her 43 and 44 years’ old, she suddenly found left hemiplegia and mental retardation, the MRI showed right frontal and parietal space-occupying lesion and relapsed after the partial excision respectively, the inter-ictal and ictal EEG displayed persistent slow wave in the right hemisphere and spike wave located in the right posterior temporal and central-parietal, after the surgery, we found amyloid in the histopathological evaluation.ConclusionOne of the delayed complications of gamma knife radiosurgery is secondary cerebral amyloidoma, and partial excision may induced relapsing easily.
ObjectiveTo improve the knowledge of a rare disease named pyridoxine-dependent epilepsy.MethodsHigh-throughput sequencing and Sanger sequencing were used to validate the genes of epilepsy. Mutation gene validation was performed on two probands and their parents. Analyze clinical manifestations, electroencephalogram (EEG), imaging and prognostic features of the two probands.ResultsProbands 1, seizure onset at 4 months, progress as drug-refractory epilepsy, manifested as seizures types origin of multi-focal lesions. Head MRI and fluorodeoxyglucose-positron-based tomography (FDG-PET) were both normal. Gene detection showed that Aldehydedehydrogenase (ALDH7A1) gene has a complex heterozygous mutation contain c.1442G> and c.1046C> T.Proband 2, seizure onset at 5 months, manifested as a tonic-clonic seizure. Intermittent EEG and head MRI were both normal. Genotyping revealed ALDH7A1 gene contain a complex heterozygous mutation c.1547A> G and c.965C> T. Two cases were both seizure free by vitamin B6 therapy and gradually reduce the antiepileptic drugs.ConclusionsPyridoxine-dependent epilepsy may be late onset, some patient can be atypical and early experimental treatment can help to identify and the diagnosis should be confirmed by gene test.
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.