Clinical Manifestations and Amplitude-integrated Encephalogram in Neonates with Early-onset Epileptic Encephalopathy / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The patients with early-onset epileptic encephalopathy (EOEE) suffer from neurodevelopmental delay. The aim of this study was to analyze the clinical manifestations and amplitude-integrated encephalogram (aEEG) characteristics of infants with EOEE with onset within the neonatal period, to make early diagnosis to improve the prognosis.</p><p><b>METHODS</b>One-hundred and twenty-eight patients with neonatal seizure were enrolled and followed up till 1 year old. Sixty-six neonates evolved into EOEE were as the EOEE group, the other 62 were as the non-EOEE (nEOEE) group. Then we compared the clinical and aEEG characteristics between the two groups to analyze the manifestations in neonates with EOEE.</p><p><b>RESULTS</b>Compared to the nEOEE group, the incidence of daily seizure attacks, more than two types of convulsions, more than two antiepileptic drugs (AEDs) application, severely abnormal aEEG background, absence of cyclicity, and more than two seizures detection were significantly higher in the EOEE group (P < 0.05) (97% vs. 54.8%; 30.3% vs. 14.5%; 97.0% vs. 25.4%; 39.4% vs. 3.2%; 57.6% vs. 9.7%; and 56% vs. 3.2%, respectively). Severely abnormal background pattern (odds ratio [OR] = 0.081, 95% confidence interval [CI]: 0.009-0.729, P = 0.025) and more than two seizures detection by aEEG (OR = 0.158, 95% CI: 0.043-0.576, P = 0.005) were the independent risk factors for the evolvement into EOEE. The upper and lower margins of active sleep (AS) and quiet sleep (QS) were significantly higher in EOEE group than those of the control group (P < 0.05) (34.3 ± 13.6 vs. 21.3 ± 6.4; 9.9 ± 3.7 vs. 6.7 ± 2.2; 41.2 ± 15.1 vs. 30.4 ± 11.4; and 11.9 ± 4.4 vs. 9.4 ± 4.0; unit: μV, respectively). AS upper margin was demonstrated a higher diagnostic specificity and sensitivity for EOEE than another three parameters according to the receiver operating characteristic curves; the area under the curve was 0.827.</p><p><b>CONCLUSIONS</b>The clinical characteristics of the neonatal seizure which will evolve into EOEE were more than two AEDs application, high seizure frequency (daily attack), and more than two types of the seizure. Significant high voltage, severely abnormal background, absence of cyclicity, and more than two seizures detected on aEEG were the meaningful indicators to the prediction of EOEE.</p>

STXBP1 gene mutation in newborns with refractory seizures / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the relationship between STXBP1 gene mutations and refractory seizures with unknown causes in newborns.</p><p><b>METHODS</b>The coding region of STXBP1 gene was detected using direct Sanger sequencing in 11 newborns with refractory seizures of unknown causes.</p><p><b>RESULTS</b>STXBP1 gene mutation was found in 1 out of 11 patients. It was a missense mutation: c.1439C>T (p.P480L).</p><p><b>CONCLUSIONS</b>STXBP1 gene mutation can be found in neonatal refractory seizures of unknown causes, suggesting a new approach of further research of this disease.</p>

Combined methylmalonic aciduria and homocysteinemia with hydrocephalus as an early presentation: a case report / 中国当代儿科杂志

A case of combined methylmalonic aciduria and homocysteinemia presenting with hydrocephalus as an early manifestation was reported for its rarity to see and to discuss the relationship between metabolic diseases and hydrocephalus by literature review. The case was an infant with seizures and hydrocephalus as an early manifestation of the disease, combined with macrocyticanemia, development retardation and visual hearing function lesions. The EEG showed hypsarrhythmia and the MRI showed hydrocephalus. Plasma homocysteinemia level increased (143.06 umol/L) and urine methylmalonic aciduria was 1483 times beyond normal. Based on gene analysis results and increased methylmalonic aciduria and homocysteinemia levels, combined methylmalonic aciduria and homocysteinemia was confirmed, presenting CblC defect (gene mutations homozygous for c.609G>A). After treatment by venous injection of vitamin B12, oral folic acid and betaine, seizures were controlled and development was progressive with ventricle retraction. It was concluded that hydrocephalus can be the early presentation in children with combined methylmalonic aciduria and homocysteinemia. Doctors should carry out metabolic disease screening for patients with hydrocephalus, especially when the cause of hydrocephalus is uncertain.

Correlation of brain hypoxia at different degrees with brain function and brain damage investigated using near infrared spectroscopy / 中华儿科杂志

<p><b>OBJECTIVE</b>To study correlation of brain hypoxia of different degrees with brain function and damage.</p><p><b>METHODS</b>The brain regional oxygen saturation (rSO2) was determined by using a non-invasive near infrared spectroscopy (NIRS) technique in 15 piglets; the piglets were subjected to inhale 3% - 11% oxygen-nitrogen mixed gas through mechanical ventilation for 30 min. The piglets were divided into groups according to the level of brain rSO2 (i.e. < 30%, 30% - 35%, 35% - 40%, and 40% - 50%), and the data were compared with those of the control group (rSO2 > 60%). Changes of brain function were detected through amplitude and frequency of EEG waves and signal complexity. The piglets were sacrificed via decapitation 72 h after brain damage, and then histopathological and ultrastructural examinations were performed on cerebral cortex and hippocampal CA1 area.</p><p><b>RESULTS</b>In the group with rSO2 > 40%, the mean arterial pressure (MAP) after hypoxia was (56 +/- 0.00) mm Hg (1 mm Hg = 0.133 kPa), the blood lactic acid (LA) was (2.3 +/- 1.2) mmol/L, the EEG findings were within normal range, and there was no change in brain tissue ultrastructure. In the group with brain rSO2 = 30% approximately 40%, the MAP was (73 +/- 8) mm Hg, the LA was (8.2 +/- 3.9) mmol/L, the EEG waves showed decreased amplitude, frequency and complexity, but restored to some extent after hypoxia. The brain tissue ultrastructure showed damages to the cerebral cortex and neuron mitochondria at hippocampal CA1 area. In the group with brain rSO2 < 30%, the MAP was (35 +/- 0) mm Hg, the LA was (12 +/- 2) mmol/L, the EEG showed decreased amplitude, frequency, and complexity of signals compared with those of the normal control group, and was difficult to restore after hypoxia in some of the piglets; the brain tissue ultrastructure appeared to be similar to the changes seen with high-degree swollen cerebral cortex and neuron mitochondria at hippocampal CA1 area.</p><p><b>CONCLUSION</b>Different degrees of hypoxia had different influence on brain function and brain damage. The lower the brain rSO2, the more severe the damages to the brain and its function. The rSO2 of brain tissues detected with noninvasive NIRS can reflect brain injury and its severity during cerebral anoxia.</p>

Evaluation of early cognitive ability of infants born preterm by near-infrared spectroscopy / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To compare the differences in cerebral oxygenation responses between the infants born preterm and full-term infants and to evaluate the early cognitive ability of infants born preterm.</p><p><b>METHODS</b>Cerebral oxygenation after light stimulation was detected by near infrared spectroscopy (NIRS) in preterm infants at 3 or 6 months corrected gestational age (GA). The results were compared with those of age-matched infants born at term.</p><p><b>RESULTS</b>The start and peak response time of cerebral oxygenation occurring after light stimulation in preterm infants at 3 months corrected GA was 17.2 +/- 5.2 and 38.4 +/- 9.6 seconds respectively, which were significantly longer than in age-matched term infants (13.1 +/- 2.7 and 28.9 +/- 5.0 seconds respectively) (P < 0.05). The maximum response value of hemoglobin, oxyhemoglobin and regional oxygen saturation of the preterm infants at 3 months corrected GA was (1.2 +/- 0.5)%, (1.5 +/- 0.6)%, and (1.3 +/- 0.4)% respectively , which were significantly lower than that of the term infants [(2.3 +/- 0.3)%, (2.8 +/- 0.3)% and (2.4 +/- 0.5)% respectively] (P < 0.05). Cerebral oxygenation responses to light stimulation in preterm infants examined at 6 months corrected GA were not significantly different from age-matched term infants.</p><p><b>CONCLUSIONS</b>Cerebral oxygenation responses to light stimulation in infants born preterm at 3 months corrected GA are not as good as age-matched term infants, but were close to the level of age-matched term infants at 6 months corrected GA. This suggests that the early cognitive ability of preterm infants before 3 months corrected GA might fall behind age-matched term infants.</p>

Relationship between neonatal polycythemia and brain damage / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical manifestations, imaging characteristics as well as prognosis of neonatal polycythemia complicated with brain damage.</p><p><b>METHODS</b>One hundred and sixteen in-patients with neonatal polycythemia admitted to our hospital during January 2003 to October 2005 were analyzed. Their clinical manifestations were observed. Craniocerebral ultrasonic examination (2D, 3D), CT and MRI were employed to dynamically observe the craniocerebral imaging variances as well as the cerebral hemodynamic variations and near infrared spectroscopy (NIR) was adopted to test the cerebral oxygenation. Twenty-two cases with moderate or severe disease were followed up for 3 to 12 months.</p><p><b>RESULTS</b>Out of the 116 polycythemic neonates, 53 cases had brain damages, of whom 31 had mild, 14 had moderate, and 8 had severe damages. Cranial imaging alterations were mostly ischemic injuries of various areas of different severity. The severity of brain damage was closely related to the duration of polycythemia, oxygen saturation of cerebral tissues as well as cerebral hemodynamic abnormalities. Brain injury was likely to occur in those whose polycythemia persisted for more than three days. The regional saturation of oxygen (rSO(2)) in mild brain injury cases was found to be 52.1%, while it was 47.1% in moderate and severe brain injury cases. Compared to the 58% as found in non-brain injury cases, the variance was found to be statistically significant (F = 104.466, P < 0.01). Among the cases with brain injury, cerebral hemodynamics displayed a slowdown in the blood flow velocity in the cerebral anterior artery and medium artery during the systolic phase and/or the diastolic phase. The abnormality ratio was closely related to the severity of brain injury. Through the chi(2) test the variance was proved to be statistically highly significant (chi(2) = 18.889, P < 0.01), however it was not correlated with the increase of the initial levels of hemoglobin (Hb) and hematocrit (HCT) (P > 0.05). During the follow up, neurological developmental abnormalities of various severity were found to exist in the cases with moderate (5/12) and severe disease (7/8), while cerebral palsy or epilepsy was not yet found.</p><p><b>CONCLUSION</b>Neonatal polycythemia might tend to bring about a reduction in the perfusion of cerebral blood flow and damaged cerebral oxygenation metabolism which in turn might lead to cerebral ischemic injury, which in some of the moderate and severe cases might lead to long-term neurological complications. Imaging investigations especially craniocerebral ultrasonic examination could be the practical means for the early diagnosis and evaluation of prognosis.</p>

Evaluation of relationship between early brain response and neurodevelopment in newborns by using near infrared spectroscopy / 中华儿科杂志

<p><b>OBJECTIVE</b>To study the relationship between early brain response to extrinsic stimulation and neurodevelopment in preterm infants, assess the brain function of preterm infants in the early stage, and thereby to provide objective evidence for the degree of neurodevelopment in preterm infants and to evaluate prognosis.</p><p><b>METHODS</b>Using near infrared spectroscopy (NIRS), the brain response to sound stimulation of 90 preterm infants at different gestational age was observed and compared with the result obtained from 20 full term infants. The neonatal behavioral neurological assessment (NBNA) was performed at corrected age of 40 weeks, and the infants were followed up for 2 years. The effect of gestational age and brain damage on preterm infants, the relation between early brain response in preterm infants and their neurodevelopment was evaluated.</p><p><b>RESULTS</b>All the preterm infants responded to different degrees to auditory stimulation after birth. The time to beginning to react and the time to appearance of the peak reaction were attained after auditory stimulation and the time to beginning to resume when the auditory stimulation was stopped was (278 +/- 94) s, (446 +/- 67) s and (199 +/- 52) s, respectively, which were significantly longer than those observed in the full term infants (107 +/- 30) s, (264 +/- 51) s and (131 +/- 46) s, respectively. The maximum reactions of hemoglobin, oxyhemoglobin and regional oxygen saturation in the infants after gestational age 32 weeks was (0.3 +/- 0.3)%, (0.7 +/- 0.5)% and (0.3 +/- 0.3)%, respectively, which were significantly lower than those in the full term infants (1.7 +/- 0.7)%, (1.7 +/- 0.8)% and (1.6 +/- 0.7)%, respectively. When the brain response of preterm infants was compared with that in infants without brain damage, the speed of the reaction was slow, the maximum reaction was low. The brain response in preterm infant was correlated with NBNA at corrected age of 40 weeks. It was found during the following-up that abnormal neurodevelopment was associated with poor brain reaction.</p><p><b>CONCLUSIONS</b>NIRS can be used to evaluate brain response of infants. Preterm infants display brain response to auditory stimulation. Early brain response is correlated with neurodevelopment.</p>

Diagnosis and prognosis of neonatal cerebral infarction / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze the relationship between clinical characteristics and prognosis of neonatal cerebral infarction and to draw attention to the disease to improve the long-term outcome through early diagnosis and intervention.</p><p><b>METHODS</b>The clinical characteristics of 6 confirmed cases were summarized. Perinatal conditions and other factors were analyzed for possible causes of the disease. The survived patients were followed-up for 6-8 months.</p><p><b>RESULTS</b>The authors diagnosed 6 cases of neonatal cerebral infarction in one year, which accounted for 0.6% (6/969) of all the in-patients in the same time period. Among them 3 cases were confirmed as cerebrovascular malformations by magnetic resonance angiography (MRA), In 1 case the infarction was due to severe bilateral intraventricular hemorrhage, and in another case the disease was related to comprehensive factors such as prematurity, maternal pregnancy induced hypertension and respiratory failure secondary to bronchopulmonary dysplasia (BPD), and in 1 case the cause was undetermined. Four out of the 6 patients presented with varied forms of convulsions, which became the second leading cause for all the neonatal convulsive events (20%). None of the patients had localized neurological signs in the early course except for abnormal muscular tone of some extent. Cerebral ultrasound scanning in 5 out of 6 cases showed positive results. The diffusion-weighted magnetic resonance imaging (DW-MRI) was highly valuable for early confirmative diagnosis. Only one case was found normal within one year of follow-up and all the other 5 cases had unfavorable prognoses of varied severity.</p><p><b>CONCLUSION</b>Neonatal cerebral infarction is not a rare condition and should be considered as one of the important causes for neonatal convulsion. Imaging study is the main technique for diagnosis. The prognoses were poor for those cases for whom early diagnosis and treatment can not be made or those with widespread cerebral lesions.</p>

Incidence of Hypoglycemia in Infants of Diabetic Mothers and Its Relationship with Brain Injury / 实用儿科临床杂志

Objective To explore the relationship between the incidence of hypoglycemia in infants of diabetic mothers and brain injury.Methods The incidence of 86 infants of diabetic mothers combined with hypoglycemia as well as the relationship time of persistent hypoglycemia of infants were studied.And the association of the incidence and degree of brain injury with the time of persistent hypoglycemia,complication of other diseases and symptomatic hypoglycemia was also investigated.Results Seventy-five cases of temporary hypoglycemia(87.2%),and 11 cases of frequent hypolycemia(12.8%)were observed in the study.In the group of unsatisfactory maternal blood glucose control cases,the incidence of frequent hypoglycemia was 19.4%;in the group of satisfactory maternal blood glucose control cases,the incidence of frequent hypoglycemia was 8%.The overall incidence of the brain injury and the incidence of severe brain injury in the group of frequent hypoglycemic cases were higher than those in the group of temporary hypoglycemic cases.The incidence of brain injury in cases complicated with other diseases(77.4%) and in those with clinical symptoms(81.2%) were significantly higher than those in without other diseases(48.5%) and clinical symptoms(57.4%)(Pa

Case of Infant with Congenital Dermal Sinus Complicating Multiple Intramedullary Spinal Abscess / 实用儿科临床杂志

Objective To improve the recognition of intramedullary spinal abscess by a case of congenital dermal sinus with intramedullary spinal abscess and reduco the incidence of congenital dermal sinus with intramedullary spinal abscess.Methods Clinical,laboratory data and image of a confirmed case about one infant of congenital dermal sinus with multiple intramedullary spinal abscess were investigated,the related literature was reviewed.Results In this case,when the infant with congential dermal sinus had infection,he failed to gain antibiotic therapy, timely surgical treatment,his infection had diffused, and multiple intramedullary spinal abscess flared up.Conclusions Intramedullary spinal abscess is a rare disease.If treatment is delayed, the prognosis is poor and the mortality rate is high.MRI is the ideal investigation for diagnosis.Intramedullary spinal abscess can happen subsequent to congenital dermal sinus with infection, and cause neurological sequela. So an infant with congenital dermal sinus should be offered to avoid complication caused by infection.

Clinical Characteristics and Follow-up on 6 Cases of Newborn Incontin entia Pigmenti / 实用儿科临床杂志

Objective To explore the clinical features,diagnosi s and prognosis of incontinentia pigmenti.Methods Analyzing and summarizing the clinical characteristic, diagnosis and prognosis of neonatal incontinentia pigmenti in 6 neonatal infants that were hospita- lized in our department during the period from January 1 998 to December 2003 were studied,and some relevant literature were reviewed. Results 1.Three of 6 infants were male which was unusual;2.Four infants had typical skin lesions at birth and 1 case at 6 days old.Four cases had typical 3 stages o f skin lesions including the erythematous and vesicular inflammatory stage,verr ucous lesions and hyperkeratosis stage,macular hyperpigmentation stage,but the re was overlap;3.Four infants were complicated by central nervous system involv ement (two cases presented mental retardation,2 infants were temporary damage). Two cases were complicated by ocular manifestations ( one case had optical nerve atrophy and blind in left eye,the other had severe bilateral retinal lesions); 4.On specific examination 5 infants were diagnosed by skin biopsy.Gene analysis was made in 1 case,but we didn′t find the mutations of NEMO. Conclusions Incontinentia pigmenti is a rare X-linked dominant multisystem disease.It may be misdiagnosed in the initial stages.Except typical clinical features,skin biops y and gene analysis are main evidence for diagnosis.Early detection and interven tion are important for prognosis. J Appl Clin Pediatr,2005,20(2):123-125