共查询到20条相似文献,搜索用时 44 毫秒
1.
Ramin Eskandari Osama Abdullah Cameron Mason Kelley E. Lloyd Amanda N. Oeschle James P. McAllister II 《Child's nervous system》2014,30(10):1651-1661
Purpose
The differential vulnerability of white matter (WM) to acute and chronic infantile hydrocephalus and the related effects of early and late reservoir treatment are unknown, but diffusion tensor imaging (DTI) could provide this information. Thus, we characterized WM integrity using DTI in a clinically relevant model.Methods
Obstructive hydrocephalus was induced in 2-week-old felines by intracisternal kaolin injection. Ventricular reservoirs were placed 1 (early) or 2 (late) weeks post-kaolin and tapped frequently based solely on neurological deficit. Hydrocephalic and age-matched control animals were sacrificed 12 weeks postreservoir. WM integrity was evaluated in the optic system, corpus callosum, and internal capsule prereservoir and every 3 weeks using DTI. Analyses were grouped as acute (<6 weeks) or chronic (≥6 weeks).Results
In the corpus callosum during acute stages, fractional anisotropy (FA) decreased significantly with early and late reservoir placement (p?=?0.0008 and 0.0008, respectively), and diffusivity increased significantly in early (axial, radial, and mean diffusivity, p?=?0.0026, 0.0012, and 0.0002, respectively) and late (radial and mean diffusivity, p?=?0.01 and 0.0038, respectively) groups. Chronically, the corpus callosum was thinned and not detectable by DTI. FA was significantly lower in the optic chiasm and tracts (p?=?0.0496 and 0.0052, respectively) with late but not early reservoir placement. In the internal capsule, FA in both reservoir groups increased significantly with age (p?0.05) but diffusivity remained unchanged.Conclusions
All hydrocephalic animals treated with intermittent ventricular reservoir tapping demonstrated progressive ventriculomegaly. Both reservoir groups demonstrated WM integrity loss, with the CC the most vulnerable and the optic system the most resilient. 相似文献2.
Caroline Driessen Koen F. M. Joosten Joyce M. G. Florisson Maarten Lequin Marie-Lise C. van Veelen Rúben Dammers Hansje Bredero-Boelhouwer Robert C. Tasker Irene M. J. Mathijssen 《Child's nervous system》2013,29(2):289-296
Purpose
Hindbrain herniation (HH) is frequently found in syndromic craniosynostosis. It may cause impairment of the respiratory centres and manifest as sleep-disordered breathing. Our aim was to quantify sleep apnoea caused by HH in children with syndromic craniosynostosis.Methods
Seventy-one children with syndromic and complex craniosynostosis (aged 0–18 years) underwent prospective magnetic resonance imaging and a sleep study. The position of the cerebellar tonsils and respiratory parameters were evaluated and analysed. None of the included patients had undergone previous foramen magnum decompression.Results
HH was present in 35 % of the patients and was more frequent in children with Crouzon syndrome (63 %) than in other types of craniosynostosis (p?=?.018). There was a positive association between the position of the cerebellar tonsils and papilledema (p?=?.002). Sleep studies of children with craniosynostosis and HH were not different from those without HH. Obstructive sleep apnoea syndrome was not more prevalent in children with HH compared to those without HH (p?=?.12). A cluster analysis using indices of apnoea revealed that three new clusters between which age was significantly different (p?=?.025).Conclusion
Sleep apnoea in syndromic craniosynostosis is not caused by HH. Rather, our evidence suggests that sleep-disordered breathing in craniosynostosis may be caused by brain stem immaturity in young children or upper airway obstruction. Therefore, as long as the child remains asymptomatic, our preferred management of HH is to be conservative and provide regular neurosurgical follow-up. 相似文献3.
Savvas Andronikou Christelle Ackermann Barbara Laughton Mark Cotton Nicollette Tomazos Bruce Spottiswoode Katya Mauff John M. Pettifor 《Child's nervous system》2014,30(9):1549-1557
Background
Objective MRI markers of central nervous system disease severity may precede subjective features of HIV encephalopathy in children. Previous work in HIV-infected adults shows that brain atrophy was associated with low CD4 and with neuropsychological impairment. Significant thinning of the corpus callosum (CC), predominantly anteriorly, was also found in HIV-infected adults and correlated with CD4 levels. These findings have not been tested in children.Purpose
The aim of this study was to determine if brain volume and midsagittal CC linear measurements (thickness and length) on MRI in children with HIV-related brain disease correlate with clinical and laboratory parameters of disease severity.Methods
Retrospective MRI analysis in children with HIV-related brain disease used a volumetric analysis software and a semi-automated tool to measure brain volume and callosal thickness/length, respectively. Each measure was correlated with clinical parameters of disease severity including Griffiths Mental Development scores (GMDS), absolute CD4 counts (cells/mm3), nadir CD4 (the lowest CD4 recorded, excluding baseline), duration of HAART, and decreased brain growth.Results
Thirty-three children with HIV-related brain disease were included. Premotor segment of the CC mean thickness correlated with age (p?=?0.394). Motor CC maximum thickness correlated significantly with general developmental quotient (p?=?0.0277); CC length correlated with a diagnosis of acquired microcephaly (p?=?0.0071) and to CD4 level closest to date of the MRI scan (p?=?0.04).Conclusions
Length of the CC and the “motor CC segment” may represent surrogate clinical biomarkers of central nervous system disease severity and with decreased level of immunity in HIV-infected patients that precede established HIV encephalopathy. 相似文献4.
Introduction
Altered mental status and more subtle cognitive and personality changes after traumatic brain injury (TBI) are pervasive problems in patients who survive initial injury. MRI is not necessarily part of the diagnostic evaluation of these patients.Methods
Case report with relevant image and review of the literature.Results
Injury to the corpus callosum is commonly described in traumatic brain injury; however, extensive lesions in the splenium are not well described. This image shows an important pattern of brain injury and demonstrates a common clinical syndrome seen in patients with corpus callosum pathology.Conclusion
Injury to the splenium of the corpus callosum due to trauma may be extensive and can cause significant neurologic deficits. MRI is important in the diagnostic evaluation of patients with cognitive changes after TBI. 相似文献5.
Kim Pulvers Ph.D. M.P.H Jacquelyn Schroeder B. A. Eleuterio F. Limas B. A. Shu-Hong Zhu Ph.D. 《Annals of behavioral medicine》2014,47(3):316-324
Background
Few experimental studies have been conducted on social determinants of pain tolerance.Purpose
This study tests a brief, computer-delivered social norm message for increasing pain tolerance.Methods
Healthy young adults (N?=?260; 44 % Caucasian; 27 % Hispanic) were randomly assigned into a 2 (social norm)?×?2 (challenge) cold pressor study, stratified by gender. They received standard instructions or standard instructions plus a message that contained artifically elevated information about typical performance of others.Results
Those receiving a social norm message displayed significantly higher pain tolerance, F(1, 255)?=?26.95, p?<?.001, η p 2 ?=?.10 and pain threshold F(1, 244)?=?9.81, p?=?.002, η p 2 ?=?.04, but comparable pain intensity, p?>?.05. There were no interactions between condition and gender on any outcome variables, p?>?.05.Conclusions
Social norms can significantly increase pain tolerance, even with a brief verbal message delivered by a video. 相似文献6.
Da Costa AC Anderson VA Savarirayan R Wrennall JA Chong DK Holmes AD Greensmith AL Meara JG 《Child's nervous system》2012,28(6):869-877
Purpose
Single-suture craniosynostosis (SSC) is a congenital craniofacial disorder, in which premature fusion of one of the skull sutures restricts and distorts growth of the cranium and underlying brain. This disorder of prenatal onset occurs during a critical phase of rapid growth and development of the immature brain. Craniosynostosis carries a known risk of developmental impairment. The neurodevelopmental sequelae of SSC prior to treatment remains however incompletely understood. This study sought to determine the neurodevelopmental sequelae of untreated single-suture craniosynostosis during early infancy.Methods
Fifty-six consecutive patients with unoperated SSC (sagittal, metopic and unicoronal) comprised the sample cohort. Patients were aged between 4 and 16?months (M?=?8.9?months, SD?=?2.9?months). Neurodevelopmental functioning was assessed with the mental (Mental Development Index) and motor (Psychomotor Development Index) scales of the Bayley Scales of Infant Development, second edition.Results
Children with SSC displayed significantly lower mean mental (M?=?97.7, SD?=?6.7, p?0.05) and motor (M?=?87.7, SD?=?13.0, p?0.001) scores than normative population averages. The distribution of these scores also differed significantly from the normative distribution; an increased rate of significant motor developmental delay was found, and none of the children displayed accelerated development. Subgroup comparisons between the primary diagnostic subtypes in this sample revealed no significant differences in mental or motor skill functioning.Conclusions
Untreated SSC is associated with an increased incidence of developmental delay during early infancy, with motor skills appearing the most vulnerable to impairment during this developmental phase. 相似文献7.
Alana J. McVey Bridget K. Dolan Kirsten S. Willar Sheryl Pleiss Jeffrey S. Karst Christina L. Casnar Christina Caiozzo Elisabeth M. Vogt Nakia S. Gordon Amy Vaughan Van Hecke 《Journal of autism and developmental disorders》2016,46(12):3739-3754
Young adults with ASD experience difficulties with social skills, empathy, loneliness, and social anxiety. One intervention, PEERS® for Young Adults, shows promise in addressing these challenges. The present study replicated and extended the original study by recruiting a larger sample (N?=?56), employing a gold standard ASD assessment tool, and examining changes in social anxiety utilizing a randomized controlled trial design. Results indicated improvements in social responsiveness (SSIS-RS SS, p?=?.006 and CPB, p?=?.005; SRS, p?=?.004), PEERS® knowledge (TYASSK, p?=?.001), empathy (EQ, p?=?.044), direct interactions (QSQ-YA, p?=?.059), and social anxiety (LSAS-SR, p?=?.019). Findings demonstrate further empirical support for the intervention for individuals with ASD. 相似文献
8.
Da Eun Jung Woo Hyun Shim Hee Mang Yoon Jeong A. Kim Joon Soo Lee 《Child's nervous system》2014,30(12):2043-2049
Purpose
To delineate microstructural changes in transected white matter tracts after corpus callosotomy in relation to seizure recurrence using tract-based spatial statistics of diffusion tensor imaging (DTI-TBSS).Methods
We retrospectively included 12 total corpus callosotomy patients who had undergone serial pre- and postoperative DTI studies. The first postoperative DTI was performed within 6 months after callosotomy. The second postoperative DTI was performed in five patients with seizure recurrence (symptomatic group) and in seven patients without seizure recurrence (asymptomatic group) after 1 year following surgery. Group comparisons of fractional anisotropy (FA) with age- and sex-matched controls were performed in a whole brain voxel-wise manner using DTI-TBSS.Results
The first postoperative DTI-TBSS showed a significant FA decrease in the entire corpus callosum in all patients. The second postoperative DTI-TBSS showed that a significant FA decrease remained in the entire corpus callosum in the asymptomatic group. However, in the symptomatic group, no significant decrease of FA was observed in some parts of the posterior body and splenium of the corpus callosum, although there was still a significant FA decrease in the genu of the corpus callosum.Conclusions
Using DTI-TBSS analysis, we characterized and visualized microstructural white matter changes over time in relation to seizure recurrence in callosotomy patients, suggesting that reorganization of some transected white matter tracts may be related to seizure recurrence. DTI-TBSS analysis can provide reliable and useful information about the state of white matter bundles affected by corpus callosotomy in a noninvasive manner. 相似文献9.
Kevin S. Spink PhD Kathleen S. Wilson PhD Jocelyn Ulvick MSc 《Annals of behavioral medicine》2012,44(1):94-103
Background
Social influence channels (e.g., parents) and types (e.g., compliance) have each been related to physical activity independently, but little is known about how these two categories of influence may operate in combination.Purpose
This study examined the relationships between various combinations of social influence and physical activity among youth across structured and unstructured settings.Methods
Adolescents (N?=?304), classified as high or low active, reported the social influence combinations they received for being active.Results
Participants identified three channels and three types of influence associated with being active. For structured activity, compliance with peers and significant others predicted membership in the high active group (values of p?<?.001). In the unstructured setting, peer compliance (p?=?.009) and conformity (p?=?.019) were associated with active group membership.Conclusions
These findings reinforce considering both setting, as well as the channel/type combinations of social influence, when examining health-related physical activity. 相似文献10.
Yasuo Aihara Kana Komatsu Hitoshi Dairoku Osami Kubo Tomokatsu Hori Yoshikazu Okada 《Child's nervous system》2014,30(9):1499-1509
Background
The growing number of infants with deformational plagiocephaly (DP) has raised clinical questions about which children, at what age, and how molding helmet therapy (MHT) should be performed especially in Japan.Methods
A total of 1,011 Japanese pediatric head deformity infants had undergone MHT after being diagnosed with non-synostotic DP. Three ratios of left to right comparison (anterior, posterior, and overall) were created and analyzed comparing age of starting treatment, helmet wearing period, and severity of skull deformity before with after MHT.Results
The averages of head symmetry ratios after treatment in all groups (for the occipital region) showed apparent improvement; t(930)?=??60.86, p?=?0.000. (t(932)?=??57.8, p?=?0.000.) In the “severe” deformation group, the earlier the treatment was started, the higher symmetry ratio recovery was obtained. Treatment was especially effective when started in 4-month-old infants. In contrast to the “severe” group, the “mild” deformation group showed that MHT was most effective if treatment started before 6 months of age. Again, the earlier the treatment was started, the higher symmetry ratio was achieved, but compared to the “severe” group, it had a modest effect when treatment was started in infants older than 8 months.Conclusion
This is the first large-scale molding helmet study reporting the method and efficacy in Japanese infants. It demonstrated that despite the structural and physiological differences from infants of other races, molding helmet therapy is effective in Asian-born infants, provided that intervention timing and recognition conditions are met. 相似文献11.
Hyuk Chang Kwang Ho Cho Shogo Hayashi Ji Hyun Kim Hiroshi Abe Jose Francisco Rodriguez-Vazquez Gen Murakami 《Child's nervous system》2014,30(3):399-409
Background and purpose
Less information is available about site-dependent differences in fetal intrabrain angiogenesis. Quantitative evaluation is especially limited, with the measured area limited to the cerebral gray and white matters and the periventricular germinal matrix.Patients and methods
We measured vascular density (number of vessels per square millimeter) and percent vascular area (percentage of areas occupied by vessels) of CD34-positive microvessels in 14 human fetal brains, including 4 fetuses at 14–16 weeks of gestation, 5 at 25–28 weeks, and 5 at 35–37 weeks. Site-dependent differences were examined among the cerebral cortex, thalamus, internal capsule, corpus callosum, ganglionic eminence, midbrain, and cerebellar cortex and nuclei.Results
The parameters examined tended to be high in the cerebral germinal matrix, thalamus, midbrain, and cerebellum. Significant site-dependent differences were observed: lower vascular densities were observed in the internal capsule and corpus callosum than in other parts of the brain (p?<?0.05) and a larger percent area was observed in the cerebellar nuclei than in other areas. Vascular density was higher during the early than late stage because of the larger numbers of CD34-positive islands of cells in the early stage, although there were several exceptions. Percent area was not stage dependent but was almost constant at many sites.Conclusion
Consequently, except for developing nuclei, the prenatal development of intrabrain vessels after 15 weeks may proceed without any significant changes in density. 相似文献12.
Renske M. van Wijk Janine A. van Til Catharina G. M. Groothuis-Oudshoorn Monique P. L’Hoir Magda M. Boere-Boonekamp Maarten J. IJzerman 《Child's nervous system》2014,30(7):1225-1232
Purpose
Helmet therapy is regularly prescribed in infants with positional skull deformation. Evidence on the effectiveness is lacking, which complicates decision making. This study aims to assess the relation between parents’ decision for treatment of skull deformation in their infant and their level of anxiety, decisional conflict, expectations of treatment effect, perceived severity of deformation and perceived side effects.Methods
Parents of 5-month-old infants with skull deformation were invited to participate in a survey. Data collection included background characteristics, anthropometric assessment, parent-reported outcomes, decision for treatment (helmet therapy or awaiting natural course), decisional conflict scale and questions about perceived (side) effects of helmet therapy. Factors significantly correlated with treatment decision (p?<?0.1) were tested in a multiple logistic regression analysis.Results
The results of 186 respondents were included in the analysis. Parental satisfaction with their infant’s head shape (adjusted odds ratio (aOR) 0.2; 95 % confidence interval (CI) 0.1 to 0.4), expected effect of helmet therapy compared to natural course (aOR 13.4; 95 % CI 5.0 to 36.1) and decision uncertainty (aOR 1.0; 95 % CI 0.9 to 1.0; p?=?.03) were related to the decision for helmet therapy in infants with skull deformation.Conclusion
With the outcomes of this study, we can better understand parental decision-making for elective ‘normalizing’ treatments in children, such as helmet therapy in infants with skull deformation. Health care professionals should address the parents’ perception of the severity of skull deformation and their expectations of helmet therapy. Furthermore, they can support parents in decision-making by balancing medical information with parents’ expectations, values and beliefs. 相似文献13.
Jung Min Ko Byung Chan Lim Ki Joong Kim Yong Seung Hwang Hye Won Ryu Jung Ho Lee Jon Su Kim Jong-Hee Chae 《Child's nervous system》2013,29(4):525-529
Introduction
Schinzel–Giedion syndrome (SGS) is a rare multiple congenital malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. Most individuals affected by SGS die in early childhood mainly because of progressive neurodegeneration and respiratory failure. The causative gene of SGS, SETBP1, was identified, but there are few reports of SGS with molecular confirmation worldwide.Patient and method
In this study, we present a 10-month-old boy presenting with SGS complicated by epilepsy and profound developmental delay.Results
Typical facial features, multiple anomalies, and associated neurological findings suggested a clinical diagnosis of SGS. Unusually in our patient, generalized tonic seizure occurred and has been controlled well by combined antiepileptic therapy during 7 months of follow-up. Electroencephalography findings were compatible with partial seizures, and ventriculomegaly, thinning of the corpus callosum, and delayed myelination were identified on brain MR images. SETBP1 mutational analysis revealed the presence of a recurrent mutation, p.Gly870Ser. Thus, the diagnosis of our patient was molecularly confirmed as SGS.Conclusions
Although this syndrome is extremely rare, it is important to consider SGS in the differential diagnosis of infantile-onset epilepsy with progressive neurodevelopmental retardation, especially in patients with multiple anomalies and facial dysmorphism. 相似文献14.
John D. Herrington Brenna B. Maddox Connor M. Kerns Keiran Rump Julie A. Worley Jennifer C. Bush Alana J. McVey Robert T. Schultz Judith S. Miller 《Journal of autism and developmental disorders》2017,47(12):3682-3691
Recent studies suggest that longstanding findings of abnormal amygdala morphology in ASD may be related to symptoms of anxiety. To test this hypothesis, fifty-three children with ASD (mean age?=?11.9) underwent structural MRI and were divided into subgroups to compare those with at least one anxiety disorder diagnosis (n?=?29) to those without (n?=?24) and to a typically developing control group (TDC; n?=?37). Groups were matched on age and intellectual level. The ASD and anxiety group showed decreased right amygdala volume (controlled for total brain volume) relative to ASD without anxiety (p?=?.04) and TDCs (p?=?.068). Results suggest that youth with ASD and co-occurring anxiety have a distinct neurodevelopmental trajectory. 相似文献
15.
Addie L. Fortmann M.S. Linda C. Gallo Ph.D. Scott C. Roesch Ph.D. Paul J. Mills Ph.D. Elizabeth Barrett-Connor M.D. Greg A. Talavera M.D. M.P.H. John P. Elder Ph.D. M.P.H. Karen A. Matthews Ph.D. 《Annals of behavioral medicine》2012,44(3):389-398
Background
Despite established links between reduced nocturnal blood pressure (BP) dipping and cardiovascular disease, BP dipping research in Hispanics is limited.Purpose
This study investigated socioeconomic status (SES) as a predictor of BP dipping and the contributions of psychosocial factors to this relationship. Analyses were conducted for the overall sample and separately for higher and lower acculturated women.Methods
Mexican-American women (N?=?291; 40?C65?years) reported demographics and completed psychosocial assessments and 36-h ambulatory BP monitoring.Results
Lower SES related to reduced BP dipping in the overall sample and in more US-acculturated women (r??s?=?.17?C.30, p??s?<?.05), but not in less-acculturated women (r??s?=?.07, p??s?>?.10). An indirect effect model from SES to BP dipping via psychosocial resources/risk fits well across samples.Conclusions
In Mexican-American women, the nature of SES gradients in BP dipping and the roles of psychosocial resources/risk differ by acculturation level. 相似文献16.
Joseph G. Winger M.S. Catherine E. Mosher Ph.D. Kevin L. Rand Ph.D. Miriam C. Morey Ph.D. Denise C. Snyder M.S. R.D. L.D.N. Wendy Demark-Wahnefried Ph.D. R.D. 《Annals of behavioral medicine》2014,48(2):235-245
Background
Diet and exercise interventions for cancer survivors result in health benefits; however, few studies have examined health outcomes in relation to adherence.Purpose
We examined associations between adherence to components of a diet–exercise intervention and survivors’ physical and mental health.Methods
A randomized controlled trial tested a telephone and mailed print intervention among 641 older, overweight, long-term survivors of breast, prostate, and colorectal cancer. Dietary and exercise behaviors were assessed at 14 time points throughout the year-long intervention; health outcomes were examined postintervention.Results
Telephone session attendance had significant indirect relationships with health outcomes through intervention-period exercise and dietary behavior. Attendance showed positive indirect relationships with physical function (β?=?0.11, p?0.05), basic and advanced lower extremity function (β?=?0.10, p?0.05/β?=?0.09, p?0.05), and mental health (β?=?0.05, p?0.05), and a negative indirect relationship with body mass index (β?=??0.06, p?0.05).Conclusions
Session attendance is vital in facilitating improvement in health behaviors and attendant outcomes (Clinicaltrials.gov number NCT00303875). 相似文献17.
Dandy-Walker malformation: prenatal diagnosis and prognosis 总被引:5,自引:0,他引:5
O. Klein A. Pierre-Kahn N. Boddaert D. Parisot F. Brunelle 《Child's nervous system》2003,19(7-8):484-489
Introduction
The difficulty in prognosticating the clinical and intellectual outcome of fetuses presenting with a Dandy-Walker malformation (DWM) comes from the great variety of cystic, median, and retrocerebellar malformations that probably have nothing in common and the variability of the definitions given to these lesions. In addition, many of these lesions can mimic each other. A correct diagnosis cannot be made without a good quality MRI including sagittal views of the vermis and T2-weighted images. We limited the diagnosis of DWM to those malformations with all of the following features: 1) a large median posterior fossa cyst widely communicating with the fourth ventricle, 2) a small, rotated, raised cerebellar vermis, 3) an upwardly displaced tentorium, 4) an enlarged posterior fossa, 5) antero-laterally displaced but apparently normal cerebellar hemispheres, 6) a normal brain stem. If any one of the previous criteria were not met, the malformation was considered distinct from DWM.Materials and methods
The charts of 26 patients with DWMs (18 females and 8 males; median age 10.5 years) were reviewed retrospectively. The diagnosis of the malformation was made prenatally in 7 children and postnatally in the 19 others. All the patients had both one MRI including axial and sagittal views of the posterior fossa as well as T1- and T2-weighted sequences, and one neuro-psychological investigation. Syndromic DWMs and Dandy Walker variants were excluded from the study. MRIs were reviewed in a blinded manner looking for brain malformation or damage and studying with particular attention the anatomy of the vermis. Systemic malformations were also recorded. Developmental quotient (DQ) and intellectual quotient (IQ) were said to be normal when equal or greater than 85, and low when below this value. Statistical analysis was performed using a Fisher test to analyze the relationship between intellectual performances, vermis anatomy, ventricular size, brain anatomy, and associated malformations.Results
On scrutiny of sagittal T2 sequences, the vermis, although constantly small, rotated, and pushed towards the tentorium presented as two distinct morphologies, leading us to distinguish two groups of patients. In the first group (n=21), the vermis presented with two fissures, three lobes, and a fastigium as in the normal situation. In this particular group, none of the patients had associated brain malformation and all but 2 were functioning normally. One of the 2 retarded children had a fragile X syndrome. The other had a severe periventricular leukomalacia due to prematurity, which, per se, was sufficient to account for mental delay. In the second group (n=5), the vermis was highly malformed, obviously dysplastic, presenting with only one fissure or no fissure at all. It was constantly associated with major brain anomalies, most often a complete corpus callosum agenesis. All the patients in this group were more or less severely retarded. Vermis anatomy in DWMs was statistically correlated to neurological and intellectual outcome. Is the vermis dysplasia responsible, in itself, for this poor outcome? No answer can be given from this series, because retardation was observed in children who always had both a severely dysplastic vermis and other brain malformations. No other patient-related factor was statistically correlated to the outcome, in particular, hydrocephalus and extracerebral malformations.Conclusion
We described two types of DWM. The most frequent is characterized by an isolated and partially agenetic vermis. This malformation is compatible with a normal life. The second type consists of a severely abnormally lobulated vermis and associated brain malformation. This malformation is always accompanied by mental retardation. 相似文献18.
Zeng Gao Luca Massimi Simone Rogerio Charles Raybaud Concezio Di Rocco 《Child's nervous system》2014,30(1):65-72
Introduction
Vertex cephaloceles (VCs), also known as midline parietal cephaloceles, are among the most common midline scalp masses. Usually composed by a meningeal wall herniating from a vertex skull defect and covered by skin, VCs may also contain both anomalous vessels and neural elements. In spite of their harmless appearance, VCs often hide complex intracranial venous and/or brain malformations so that they represent a “tip of the iceberg”. Vertical embryonic positioned straight sinus, elongation of the vein of Galen, persistence of the falcine sinus, fenestration of the superior sagittal sinus, corpus callosum agenesis, intracranial cysts, tentorial malformations, cerebellar vermis agenesis, hydrocephalus, and gray matter heterotopia are some of such associated anomalies.Methods
The treatment of VCs is surgical. It is indicated to prevent the rupture of the malformation or in case of pain or cosmetic impact. A careful preoperative radiological work up is mandatory to investigate the relationship between the VC and the sagittal sinus and/or the possible communication with the brain. The surgical procedure is usually carried out without significant complications.Conclusion
The prognosis of VCs is good even though the overall outcome is affected by the associated brain malformations. 相似文献19.
A. Giancotti V. D’Ambrosio A. De Filippis C. Aliberti G. Pasquali S. Bernardo L. Manganaro 《Child's nervous system》2014,30(8):1445-1448
Background
The birth prevalence of Apert syndrome is estimated at 1:64,500 and accounts for about 4.5 % of all craniosynostosis with a male/female ratio equal to 1:1. It is associated to allelic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Majority cases are sporadic. Prenatal ultrasound diagnosis is based on the detection of abnormal cranial shape, midfacial hypoplasia and bilateral syndactyly of hands and feet, hypertelorism, and exorbitism. Other abnormalities includes central nervous system anomalies, congenital heart diseases, cleft palate, and urogenital diseases.Case report
A 37-year-old Caucasian woman, gravida 2, para 1, was referred to our center of Prenatal Diagnosis for routine ultrasound at 21 weeks of gestation. We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, hypertelorism, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for Apert syndrome. Magnetic resonance excluded agenesis of corpus callosum and confirmed bilateral mild ventriculomegaly. A follow-up ultrasound, performed at 23 weeks, confirmed the anomalies showed in the previous scan. An amniocentesis was performed. The results showed a normal male karyotype, while the molecular genetic test confirmed a mutation in FGFR2 gene. Fetus macroscopic analysis showed compatible features.Conclusions
Our case underlines the complementary role of ultrasound and magnetic resonance imaging in the early prenatal diagnosis of Apert syndrome. 相似文献20.
C.M. Warren K.D. Tona L. Ouwerkerk J. van Paridon F. Poletiek Henk van Steenbergen J.A. Bosch S. Nieuwenhuis 《Brain stimulation》2019,12(3):635-642