Analysis of clinical and electroencephalogram characteristics of ring chromosome 14 syndrome / 中华实用儿科临床杂志

Objective To investigate the clinical and electroencephalogram (EEG) characteristics and treatment of ring chromosome 14 syndrome,and to improve its early recognition and accurate diagnosis.Methods The clinical and EEG characteristics of 4 patients with ring chromosome 14 syndrome confirmed by genetic diagnosis were analyzed in the neurology outpatient department and ward of pediatrics in Peking University First Hospital from August 2012 to August 2018.The treatment and prognosis of the 4 patients were followed up.Results Of the 4 patients,there were 2 males and 2 females.All the patients had developmental delay,abnormal facial features such as wide eye spacing,low nasal bridge and microcephaly.Seizures occurred in all the patients with varying onset ages from 8 months to 1 year.Seizure types included focal seizure,tonic seizure and generalized tonic-clonic seizure.EEG monitoring ages varied from 9 months to 4 years and 4 months.The characteristic EEG pattern manifested as slow activity of background,unilateral or bilateral anterior,posterior or diffuse slow activity,with or without interposed multifocal epileptiform discharges.Cranial magnetic resonance imaging (MRI) showed non-specific abnormality in 1 patient and normal in 3 patients.The ages at the last follow-up ranged from 1 year and 8 months to 7 years and 1 month with intervals from 9 months to 6 years and 5 months.Valproic acid combined with other antiepileptic drugs was used to treat seizures.Seizure reduction instead of control was observed in all the 4 cases.At the last follow-up,the development of movement and language were all delayed in the 4 patients.One case could walk independently,three could walk unsteadily alone;two could speak 2-3 simple words,one could call only " baba,mama",and one had no language development.Conclusions The ring chromosome 14 syndrome is a rare disease caused by chromosome abnormality.Its main clinical manifestations included facial abnormalities,microcephaly,epilepsy,developmental delay especially for language and cognitive disability.The types of seizures included both focal and generalized.EEG showed non-specific features with slow background activity,with the migratory slow waves mixing multi-focal discharges as the main common pattern.The epilepsy of this disease was often drug resistant.Valproic acid combined with other antiepileptic drugs could reduce seizures.Seizures without control could further affect development outcome.

Analysis of clinical and electroencephalogram characteristics of ring chromosome 14 syndrome / 中华实用儿科临床杂志

Objective@#To investigate the clinical and electroencephalogram (EEG) characteristics and treatment of ring chromosome 14 syndrome, and to improve its early recognition and accurate diagnosis.@*Methods@#The cli-nical and EEG characteristics of 4 patients with ring chromosome 14 syndrome confirmed by genetic diagnosis were analyzed in the neurology outpatient department and ward of pediatrics in Peking University First Hospital from August 2012 to August 2018.The treatment and prognosis of the 4 patients were followed up.@*Results@#Of the 4 patients, there were 2 males and 2 females.All the patients had developmental delay, abnormal facial features such as wide eye spacing, low nasal bridge and microcephaly.Seizures occurred in all the patients with varying onset ages from 8 months to 1 year.Seizure types included focal seizure, tonic seizure and generalized tonic-clonic seizure.EEG monitoring ages varied from 9 months to 4 years and 4 months.The characteristic EEG pattern manifested as slow activity of background, unilateral or bilateral anterior, posterior or diffuse slow activity, with or without interposed multifocal epileptiform discharges.Cranial magnetic resonance imaging (MRI) showed non-specific abnormality in 1 patient and normal in 3 patients.The ages at the last follow-up ranged from 1 year and 8 months to 7 years and 1 month with intervals from 9 months to 6 years and 5 months.Valproic acid combined with other antiepileptic drugs was used to treat seizures.Seizure reduction instead of control was observed in all the 4 cases.At the last follow-up, the development of movement and language were all delayed in the 4 patients.One case could walk independently, three could walk unsteadily alone; two could speak 2-3 simple words, one could call only " baba, mama" , and one had no language development.@*Conclusions@#The ring chromosome 14 syndrome is a rare disease caused by chromosome abnormality.Its main clinical manifestations included facial abnormalities, microcephaly, epilepsy, developmental delay especially for language and cognitive disability.The types of seizures included both focal and generalized.EEG showed non-specific features with slow background activity, with the migratory slow waves mixing multi-focal discharges as the main common pattern.The epilepsy of this disease was often drug resistant.Valproic acid combined with other antiepileptic drugs could reduce seizures.Seizures without control could further affect development outcome.

A Case of Ring Chromosome 14 Syndrome Presenting with Intractable Epilepsy

Ring chromosome 14 syndrome is a rare cytogenetic disorder characterized by typical facial appearance, developmental delay, and intractable epilepsy. There have been about 50 reported cases in the world and one case in Korea. Epilepsy is the most common and serious neurologic comorbidity of the syndrome and it typically begins at early ages and frequently becomes intractable. We report a girl with ring chromosome 14 syndrome who showed early onset intractable epilepsy with repetitive episodes of clustering seizures. We describe the case and the result of long term follow-up for the epilepsy. The early suspicion of the syndrome and prompt management for seizures are necessary for the favorable prognosis.

A Case of Ring Chromosome 14 Syndrome Presenting with Intractable Epilepsy / 대한간질학회지

Ring chromosome 14 syndrome is a rare cytogenetic disorder characterized by typical facial appearance, developmental delay, and intractable epilepsy. There have been about 50 reported cases in the world and one case in Korea. Epilepsy is the most common and serious neurologic comorbidity of the syndrome and it typically begins at early ages and frequently becomes intractable. We report a girl with ring chromosome 14 syndrome who showed early onset intractable epilepsy with repetitive episodes of clustering seizures. We describe the case and the result of long term follow-up for the epilepsy. The early suspicion of the syndrome and prompt management for seizures are necessary for the favorable prognosis.