ABSTRACT
OBJECTIVE@#To carry out genetic and metabolite analysis for an infant with cerebral creatine deficiency syndrome type 2 (CCDS2).@*METHODS@#Clinical data of the child was collected. Whole-exome sequencing was carried out to identify potential variants by next generation sequencing. Candidate variants were confirmed by Sanger sequencing. Metabolites were determined by tandem mass spectrometry and magnetic resonance spectroscopy. Treatment was carried out following the diagnosis and genetic counseling for the affected family.@*RESULTS@#Two novel heterozygous variants (c.289delC and c.392-1G>C) of the GAMT gene were identified in the proband, which were respectively inherited from her father and mother. In silico analysis suggested both variants to be pathogenic. Creatine (Cr) level of the child was very low, and cerebral guanidinoacetate (GAA) level was slightly increased. But both had recovered to normal in two weeks, and cerebral Cr level was significantly improved after two months. Intellectual and motor development of the child were significantly improved.@*CONCLUSION@#The child was diagnosed with CCDS type 2, for which pathogenic variants of the GAMT gene may be accountable. Treatment has attained a satisfactory effect for the patient.
ABSTRACT
A total of 20 normal newborns and 8 brain injured newborns were monitored for 2 hours with domestic digital amplitude integrated cerebral function monitor (CFM 3000) and similar imported products LECTROMED CFM 5330 simultaneously. 32 newborns with seizures or suspected seizures were monitored with CFM 3000 and conventional electroencephalogram (EEG) simultaneously. The tracings of amplitude integrated electroencephalogram (aEEG) monitored by CFM 3000 and LECTROMED CFM 5330 are similar to each other. The continuous electrical activity, sleep-wake cycle, the mean of lower or upper bound voltage and duration of broad and narrow band were no significant statistical difference between different machines; The pattern of aEEG tracing of 8 infants with brain injury monitored by CFM 3000 was the same as monitored by the LECTROMED CFM 5330. The detection rate of seizure with CFM 3000 and conventional EEG were no statistically significant difference, and the consistency with Kappa test was: Kappa = 0.552, P = 0.001. The CFM 3000 can reflect the change of cerebral function and identify infants with brain injury reliably.
Subject(s)
Female , Humans , Infant, Newborn , Male , Brain Injuries , Diagnosis , Electroencephalography , Methods , Monitoring, Physiologic , Methods , Reference Standards , Seizures , Diagnosis , Signal Processing, Computer-AssistedABSTRACT
Objective To characterize contemporary electrographic neonatal seizures by video electroencephalogram (VEEG) and to assess the value and the limitations of two-channel (C3-C4/T3-T4) amplitude-integrated electroencephalogram (aEEG) plus original EEG signals used to diagnose neonatal seizure with video EEG as a golden standard.Methods Sixty-six neonates admitted to Children's Hospital of Fudan University from January 2011 to July 2011 with clinical or suspected clinical seizure were investigated and bedside VEEG were recorded for more than 3 hours.VEEG signals were transformed into three kinds of aEEG signals by Galileo NT PMS software:one-channel aEEG (C3-C4),one-channel aEEG (C3-C4) plus original EEG,two-channel aEEG (C3-C4/T3-T4) plus original EEG.Electrical seizure activity on VEEG was signed out with respect to its occurrence,duration and localization of seizure onset; while aEEG seizure was recorded only with its occurrence.The relationship between aEEG and VEEG was analyzed by Spearman analysis.The value and the limitations of aEEG to diagnose neonatal seizure were evaluated by sensitivity,specificity,positive predictive value and negative predictive value.Results A total of 62 traces were suitable for analysis.(1) VEEG showed 39 seizure activities,among which 8 status epilepticus; and the rest 31 neonates had 352 non-status epilepticus electrical seizures,79.3％ (279/352) of which occurred over the centrotemporal region.(2) Eight cases with status epilepticus on VEEG were all diagnosed as status epilepticus on aEEG.For non-status epilepticus electrical seizures,the sensitivity of aEEG for detection of electrical seizures was as followed:49.1％ (173/352) for one-channel aEEG,54.5 ％ (192/352) for one-channel aEEG plus original EEG,81.2％ (286/353) for two-channel aEEG plus original EEG.Results from one-channel aEEG,one-channel aEEG plus original EEG and two-channel aEEG plus original EEG were all related to VEEG (ρ =0.790,0.907 and 0.953,respectively,P＜ 0.01).(3) Sensitivity of seizure detection was 66.7％ (26/39,95％ CI:0.62-0.81) for one-channel aEEG,74.4％(29/39,95％ CI:0.78-0.96) for one-channel aEEG(C3-C4) plus original EEG and 89.7％ (35/39,95％ CI:0.89-1.00) for two-channel aEEG(C3-C4/T3-T4) plus original EEG.Conclusions VEEG might help aEEG in diagnosis of neonatal seizure.two-channel aEEG (C3-C4/T3-T4) plus original EEG could significantly increase the sensitivity of neonatal seizures indentification.
ABSTRACT
Amplitude integrated electroencephalogram (aEEG), also known as cerebral function monitor (CFM), is a non-invasive detection of brain function, having good accuracy in early diagnosis and prognosis evaluation of neonatal brain damage. Today, doctors classify amplitude integrated electroencephalogram mainly based on its waveform and amplitude, then they make correct diagnosis of brain function of neonates. However, in some cases, the amplitude and waveform of aEEG are not very clearly shown, the only way is relying on doctors' experience to give out judgement, which has some subjective factors, so doctors can not present accurate diagnostic information. To solve this problem by the use of non-linear dynamics, we calculate and analyze the correlation dimension, Lyapunov exponent and approximate entropy of the aEEG for neonates with convulsions and for normal neonates; then we take these three characters as a three-dimensional vector; finally, the aEEG of neonates with convulsions and the aEEG of normal neonates are distributed into two parts in threedimensional space, thus the correlation dimension, Lyapunov exponent and approximate entropy of the aEEG can reflect the internal information of neonatal brain function. Therefore, it can be used as a new method for studying neonatal aEEG.