Dandy-Walker malformation: analysis of 38 cases

Thirty-eight cases of Dandy-Walker malformation (DWM) are presented. A female predominance of 3:1 was found. Thirty-two cases (84%) were diagnosed within the 1st year of life. Of these, 17 cases (44.7%) were diagnosed at birth. Ten (26%) were delivered by cesarean section. Thirteen infants (34%) had a birth weight below 3000 g. Several associated malformations were observed, the most frequent being capillary angioma (6 case); cardiac malformations, ophthalmic anomalies, agenesis of the corpus callosum, malformed limbs, and occipital meningocele were also seen. These observations indicate that DWM represents a disorder of the midline central nervous system indicative of marked genetic and etiologic heterogeneity with the possibility of showing clinical and pathological alterations intra-and extracranially. Macrocephaly was the most frequent physical finding, appearing in 31 cases (82%). Seventeen (44.7%) patients died, 11 before 6 months of age, 3 between 6 and 12 months, and 3 after 1 year. Postmortem studies were performed in 13 patients. Three cases have been lost to follow-up. Mental retardation (IQ below 70) was found in 11 cases (58% of survivors), low intellect (IQ between 70 and 85) in 4, and only 2 patients showed normal intellectual development (IQ more than 85). The high incidence of malformations having several genetic and environmental origins, as well as the high early mortality of patients with DWM, indicate the complexity of this syndrome, which involves the midline developmental field structures. It is not an isolated malformation of the posterior fossa in most cases.     

Choroid plexus dysmorphism detected by transvaginal sonography: the earliest sign of fetal hydrocephalus.

Fetal intracranial pathology detected in the early second trimester during 1237 transvaginal sonographic scans is presented. In a sharp contrast to simple choroid cysts, which disappear at the end of the second trimester as part of a benign course, gross distortion of the choroid plexus was found to be related to the later diagnosis of hydrocephalus. Three patterns of this abnormality are early absence of the plexus, hypoplasia and shrinkage, and "Swiss cheese" appearance. Ventriculomegaly in hydropic fetuses does not distort the normal architecture of the choroid plexus. Certain abnormal features of the choroid plexus, observed as early as the 14th week, menstrual age, are landmarks of developing hydrocephalus, currently detectable only later in pregnancy.     

Factors influencing the development of periventricular lucencies in patients with raised intracranial pressure

Summary Sixty patients with raised intracranial pressure and lowered attenuation areas around the lateral ventricles (periventricular lucency, PVL) on CT scanning were reviewed, and compared with a control group of 90 similar patients who did not have PVL. It was confirmed that PVL tends to occur in patients with acute or subacute obstructive hydrocephalus due to a tumour, and is more common in the presence of papilloedema and/or a decreased level of consciousness. Patients with very dilated lateral ventricles did not in general have PVL, but it was frequently seen in association with diastasis of the sutures. Twelve patients with PVL had no other clinical or radiological indication of raised intracranial pressure. Comparison with the control cases did not reveal any reason as to why some patients should develop PVL while others did not.     

腰穿置管稳压引流治疗蛛网膜下腔出血后脑积水

目的探讨蛛网膜下腔出血(SAH)后脑积水简便、安全、有效的治疗方法。方法所收治的283例SAH病人中有90例发生了急性脑积水,在内科治疗基础上,其中46例进行了腰穿置管稳压引流治疗结果与无脑积水者对照比较。结果上法治疗后32例(32/46,70%)意识水平均有所改善;所有受治病人12d内再出血和脑缺血的发生率与无脑积水的病人组无显著性差异〔5/46(11%),24/193(12%);16/46(35%)60/193(31%)。P>0.05〕。治疗组未发生脑室炎或脑膜炎。结论腰穿置管稳压引流是一种治疗SAH后脑积水简便、安全、有效的方法。     

Risk and risk factors for epilepsy in shunt-treated children with hydrocephalus

ObjectEpilepsy is a major comorbidity in children with hydrocephalus (HC) and has a serious impact on their developmental outcomes. There are variable influencing factors, thus the individual risk for developing epilepsy remains unclear. Our aim was to analyse risk factors for developing epilepsy in children with shunted HC.MethodsA retrospective, single-centre analysis of 361 patients with the diagnosis of HC was performed. Age at HC diagnosis, shunt treatment, development of epilepsy, epilepsy course, and the aetiology of HC were considered. The influence of shunt therapy, including its revisions and complications, on the development of epilepsy was investigated.ResultsOne-hundred forty-three patients with HC (n = 361) had a diagnosis of epilepsy (39.6%). The median age at the first manifestation of epilepsy was 300 days (range:1–6791; Q1:30, Q3: 1493). The probability of developing epilepsy after HC decreases with increasing age. The most significant influence on the development of epilepsy is that of the HC itself and its underlying aetiology (HR 5.9; 95%-CI [3–10.5]; p < 0.001). Among those, brain haemorrhage is associated with the highest risk for epilepsy (HR 7.9; 95%-CI [4.2–14.7]; p < 0.01), while shunt insertion has a lower influence (HR 1.5; 95%-CI [0.99; 2.38]; p = 0.06). The probability of epilepsy increases stepwise per shunt revision (HR 2.0; p = 0.03 after 3 or more revisions). Five hundred days after the development of HC, 20% of the children had a diagnosis of epilepsy. Shunt implantation at a younger age has no significant influence on the development of epilepsy nor does sex.ConclusionChildren with HC are at high risk for developing epilepsy. The development of epilepsy is correlated mainly with HC's underlying aetiology. The highest risk factor for the development of epilepsy seems to be brain haemorrhage. The age at shunt implantation appears to be unrelated to the development of epilepsy, while structural brain damage at a young age, shunt revisions and complications are independent risk factors. The onset of epilepsy is most likely to take place within the first 500 days after the diagnosis of HC.     

经颅多普勒超声在儿童颅内压增高性疾病中的应用

经颅多普勒超声(transcranial doppler ultrasonography,TCD)是一种非侵入性评价颅内动脉的检测手段,自上世纪80年代问世以来,已被广泛性应用于临床工作的各个领域.由于其操作简便、重复性好,可以对患者进行床旁连续、动态观察,尤其适用于监测危重症患者.颅内压增高是儿童致病致死的再要原因之一,它可使脑血流灌注下降,造成脑功能障碍等严重后果,因此颅内压监测有重要临床意义.TCD作为一种无创性监测工具,可根据其血流速度、相关参数及血流频谱的变化对颅内压增高患者脑血流动力学进行动态监测与评估,从而达到监测颅内压改变的目的.本文着重阐述TCD在几种常见的儿童颅内高压性疾病中的应用进展.     

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome

Walker–Warburg syndrome (WWS) is a severe muscular dystrophy with eye and brain malformations. On a molecular level, WWS is a disorder of the O-linked glycosylation of α-dystroglycan and therefore referred to as one of the dystroglycanopathies. The disease family of muscular dystrophy–dystroglycanopathy (MDDG) contains a spectrum of severe to mild disorders, designated as MDDG type A to C. WWS, as the most severe manifestation, corresponds to MDDG type A. Defects in the genes POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, GTDC2, G3GALNT2, GMPPB, B3GNT1, TMEM5 and COL4A1 and ISPD have been described as causal for several types of MDDG including WWS, but can only be confirmed in about 60–70% of the clinically diagnosed individuals. The proteins encoded by these genes are involved in the posttranslational modification of α-dystroglycan. Mutations in POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, GMPPB, TMEM5 and COL4A1 and ISPD lead to a wide spectrum of phenotypes of congenital muscular dystrophies with or without eye and brain abnormalities. Patients with WWS frequently demonstrate a complete lack of psychomotor development, severe eye malformations, cobblestone lissencephaly and a hypoplastic cerebellum and brainstem, seizures, hydrocephalus and poor prognosis. Here, we present a boy with WWS who showed compound heterozygous changes in ISPD and discuss the clinical and radiological phenotype and the molecular genetic findings, including a novel pathogenic mutation in ISPD.     

Analysis of related factors affecting prognosis of shunt surgery in patients with secondary normal pressure hy- drocephalus

Objective： The management of se- condary normal pressure hydrocephalus （sNPH） is controversial. Many factors may affect the surgery effect. The purpose of this study was to identify the possible fac- tors influencing prognosis and provide theoretical basis for clinical treatment of sNPH. Methods： A retrospective study was carried out to investigate the results of 31 patients with sNPH who under- went ventriculoperitoneal shunt surgery from January 2007 to December 2011. We processed the potential influencing factors by univariate analysis and the result further by mul- tivariate logistic regression analysis. Results： Factors including age, disease duration and Glasgow coma scale （GCS） score before surgery significantly influenced the prognosis of sNPH （P〈0.05）. Further logistic regression analysis showed that all the three factors are independent influencing factors. Conclusion： Age, disease duration and GCS score before surgery have positive predictive value in estimating favorable response to surgical treatment for sNPH.     

脑室帽状腱膜下引流术治疗早产儿脑室内出血后脑积水的疗效分析CSCD

目的 探讨脑室帽状腱膜下(ventriculosubgaleal, VSG)引流术治疗早产儿脑室内出血后脑积水的安全性、可行性。方法 以2012年11月至2019年11月北京大学第三医院新生儿重症监护病房收治的脑室帽状腱膜下引流的脑室内出血后脑积水早产儿为研究对象。比较VSG引流术治疗前后患儿脑脊液蛋白、细胞数、头围变化情况。本组5例早产儿,胎龄(29.36±3.43)周;出生体重(1 560.00±665.85)g。行VSG时日龄9~39 d,中位数30(15,36)d。5例均为脑室内出血继发梗阻性脑积水;围产期并发疾病包括:窒息2例,新生儿呼吸窘迫综合征3例,动脉导管未闭4例,持续肺动脉高压3例,败血症1例,呼吸性酸中毒5例。结果 5例患儿共进行6次VSG分流术。6次置管过程顺利,VSG引流持续时间1~18个月,中位数8.75(4~17.25)个月。与VSG引流术前相比,患儿治疗后脑脊液蛋白水平逐渐下降[(14 152.67±10 857.27)/μL比(744.00±501.86)/μL],脑脊液细胞数及头围监测数值均较治疗前下降[(29.43±4.12)cm比(27.67±3.71)cm]。术后帽状腱膜下囊暂时性关闭1例,经调整位置后再次应用;堵管1例;无一例导管相关感染等其他并发症。5例均存活,1例中度智力低下,1例轻度智力低下,3例发育正常。结论 VSG引流术治疗早产儿脑室内出血后脑积水安全可行,能改善患儿预后,提高生存率,并发症较少且可控。     

Non-invasive assessment of cerebrospinal fluid flow dynamics using phase-contrast magnetic resonance imaging in communicating hydrocephalus

This work aims to evaluate the changes in cerebrospinal fluid (CSF) hydrodynamics in patients diagnosed with communicating hydrocephalus. Besides, we establish the relationship between CSF flow dynamic parameters on the midbrain aqueduct and intracranial pressure (ICP). CSF hydrodynamics analysis was performed using Phase-Contrast Magnetic Resonance Imaging (PC‐MRI) techniques on the midbrain aqueduct of 41 patients diagnosed with communicating hydrocephalus and 22 healthy volunteers. The correlation between CSF average flow in the midbrain aqueduct and intracranial pressure measured by Lumbar Puncture (LP) was assessed in patients with hydrocephalus. Pearson correlation coefficient was used to establish the correction between the average CSF flow of midbrain aqueduct and ICP. CSF dynamic parameters of the midbrain aqueduct in hydrocephalus patients, including peak positive velocity (7.348 cm/s), average velocity (0.623 cm/s), average flow (50.799 mm³/s), and regions of interest (ROI) area (9.978 mm²) were significantly higher than in the healthy controls (p < 0.05). This was after adjusting the age, gender, heart rate, systolic blood pressure, diastolic blood pressure, and body mass index. However, only the peak negative velocity of the midbrain aqueduct did not significantly differ between the groups (p = 0.209). A positive correlation was noted between the average flow (AF) of the midbrain aqueducts and ICP in hydrocephalus patients (y (AF) = 0.386× (ICP)−33.738, r = 0.787, p < 0.05). Reference data of CSF flow dynamic parameters was obtained through the PC-MRI in middle-aged healthy volunteers and communicating hydrocephalus patients. Although the sample size was constrained, this study has significant contributions. For instance, a significant correlation was noted between the average CSF flow of the aqueduct and ICP. This therefore provides a reference for clinicians to monitor ICP in patients with hydrocephalus.