Showing papers in "Childs Nervous System in 2006"
TL;DR: Though better results in terms of seizures control and psychomotor development were reported in a limited series of children operated on early in life, the insufficient number of subjects who underwent the surgical treatment does not allow definite conclusions yet.
Abstract: Introduction
Sturge–Weber syndrome (SWS) is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma. The interest of this syndrome for pediatric neurosurgeons is mainly related to the association of SWS with epilepsy in 75–90% of the cases. Seizures are resistant to medical treatment in almost 60% of these patients that consequently should be evaluated for epilepsy surgery.
191 citations
TL;DR: A hypothesis is proposed that the CSF dynamics develop in the theory of evolution from the immature brain, as in the animals with the minor CSF pathway predominance, towards matured adult human brain together with completion of the majorCSF pathway: the “evolution theory in CSf dynamics”.
Abstract: Background
The specificity of cerebrospinal fluid (CSF) dynamics in the immature brain still remains unknown. In our data previously published, the transependymal intraparenchymal CSF pathway (the minor pathway) plays a significant role in various degrees in the alternative CSF passage. Now, there is a growing consensus in the age differences in the outcome of neuroendoscopic ventriculostomy in treatment of non-communicating types of hydrocephalus. The authors discuss the clinical significance of the specific CSF dynamics and propose the new aspect of classification of hydrocephalus with a theory in the development of CSF from the pathophysiological point of view.
186 citations
TL;DR: Long-term follow-up of shunted children is necessary to evaluate the real incidence of SI and the functional outcome after SI, which was mostly due to intraoperative contamination and abdominal sepsis.
Abstract: Shunt infection (SI) is an enduring problem in pediatric neurosurgery. Its occurrence is variable in the different series that were published, according to the definition retained. In addition, long-term data, which could help to evaluate the incidence of delayed SI, as well as the developmental outcome after SI, are scarce in the literature. We reviewed retrospectively children shunted for hydrocephalus during the last 20 years to evaluate the incidence of SI, including late SI, the risk factors and sources of contamination, and the late outcome after SI. We treated 1,173 patients who were followed-up for a mean duration of 7.0 years. During that period, 158 patients presented with a total number of 190 episodes of infection, 19 of which occurred more than 1 year after surgery. The infection rates per patient and per procedure were 13.6 and 5.9%, respectively. Age below 4 months at shunt insertion [odds ratio (OR)=1.81], antenatal diagnosis (OR=2.23), myelomeningocele (OR=2.14), and post-hemorrhagic hydrocephalus (OR=1.98) were significantly correlated with SI. SI was mostly due to intraoperative contamination; however, delayed SI was mostly caused by blood-borne contamination and abdominal sepsis. The mortality related to SI was 10.1%; the Glasgow Outcome Score, as well as schooling, was significantly and independently affected by SI. Long-term follow-up of shunted children is necessary to evaluate the real incidence of SI and the functional outcome after SI.
172 citations
TL;DR: Both the immediate mortality and neurological damage risk of ETV procedures should be weighted against the long-term mortality and the late neurological damage which is not infrequently described as a consequence of shunt malfunction and proximal shunt revision procedures.
Abstract: The decision-making process when we compare endoscopic third ventriculostomy (ETV) with shunts as surgical options for the treatment of hydrocephalus in infants is conditioned by the incidence of specific and shared complications of the two surgical procedures. Our literature review shows that the advantages of ETV in terms of complications are almost all related to two factors: (a) the avoidance of a foreign body implantation and (b) the establishment of a ‘physiological’ cerebrospinal fluid (CSF) circulation. Both these kinds of achievements are particularly important in infants because of the relative high rate of some intraoperative (i.e. abdominal) and late (secondary craniosynostosis, slit-ventricle syndrome) shunt complications in this specific subset of patients. On the other side, the main factor which is claimed against ETV is the relatively high risk of immediate mortality and neurological complications. Clinical manifestations of neurological structure damage seem to be more frequent in infants, probably due to the more relevant effect of parenchymal and vascular damage in this age group; however, both the immediate mortality and neurological damage risk of ETV procedures should be weighted against the long-term mortality and the late neurological damage which is not infrequently described as a consequence of shunt malfunction and proximal shunt revision procedures. Infections are possible in both ETV and extrathecal CSF procedures, especially in infants. However, the incidence of infective complications is significantly lower in case of ETV (1–5% vs 1–20%). Moreover, different from shunting procedures, infections in children with third ventriculostomy have a more benign course, being generally controlled by antibiotic treatment alone.
170 citations
TL;DR: First results indicate that GKS is as effective as microsurgical resection and very much safer than microsurgery and also allows avoiding the vascular risk related to radiofrequency lesioning or stimulation.
Abstract: Objective
A large spectrum of surgical techniques can be proposed to young patients presenting with hypothalamic hamartomas (HH) associated with severe epilepsy. The aim of this report is to point on some clinical and anatomical parameters supposed to influence the choice of the surgical approach and to emphasize the specific role of radiosurgery.
144 citations
TL;DR: The results show that VNS implantation can be a safe and effective alternative therapy for children with drug-resistant epilepsy who are not candidates for epilepsy surgery.
Abstract: The management of intractable epilepsy in children is a challenging problem. For those patients who do not respond to antiepileptic drugs and are not candidates for epilepsy surgery, vagal nerve stimulation (VNS), can be a viable alternative for reducing seizure frequency. We have reviewed the historical and clinical background of VNS treatment. We also include our experience at The Hospital for Sick Children in children who underwent VNS implantation. Forty-one children underwent VNS implantation for epilepsy over 6 years. After a mean follow-up of 31 months, 15 (38%) patients had a seizure frequency reduction of more than 90%. Fifteen (38%) children failed to respond to the VNS treatment. The device was removed in five children: in one, due to late infection; the other four could not tolerate the side effects of chronic VNS therapy. Two patients required reimplantation due to electrode failure. The most common side effects in our series were cough and vocal disturbances. Our results show that VNS implantation can be a safe and effective alternative therapy for children with drug-resistant epilepsy who are not candidates for epilepsy surgery.
111 citations
TL;DR: A careful patient selection and preoperative planning lead to better results of ETV, and a higher early and late complication rate in children younger than 1-year-old were noted in this series.
Abstract: Endoscopic third ventriculostomy (ETV) is considered by many authors the initial surgical procedure of choice for the treatment of non-communicant hydrocephalus. However, this procedure has early and late complications that neurosurgeons must be aware of when performing it. A retrospective study of infants and children treated with ETV at Children’s Memorial Hospital (Chicago, IL) between 1993 and 2004 is presented. A total of 136 ETVs in 122 patients were performed with 8.8% early complication rate (hemorrhage, CSF leak, infection, diabetes insipidus, and seizures). There were no fatalities but one patient had severe neurological disturbances due to intracranial hemorrhage at the second ETV. We identified several significant factors that influence the late ETV failure rate: age under 12 months (p=0.012), cases performed early in our experience (p=0.009), patients with hydrocephalus without expansive lesions (p=0.026), patients that had an external ventricular drain (EVD) after ETV (p<0.005), and patients who developed early complications (p=0.035). A careful patient selection and preoperative planning lead to better results of ETV. A higher early and late complication rate in children younger than 1-year-old were noted in our series. There is definitely a learning curve for this technique, and several technical considerations are helpful to avoid adverse events. Most of the early complications are transient, while potential devastating injuries can occur. Long-term follow-up is needed to identify delayed closure of the fenestration. Ventricular access devise is helpful for diagnostic and therapeutic purposes during the follow-up.
110 citations
TL;DR: There was a relation between everyday mathematics, reading skills, and quality of life and the consequences of the physical, medical, and cognitive effects of spina bifida extend into young adulthood and have an impact onquality of life.
Abstract: Quality of life was studied in 31 adult survivors of spina bifida, each with Verbal or Performance IQ score over 70. Instruments measured physical and occupational function, cognitive/psychological function, somatic sensation, and social interaction in the context of the ability to live independently. Domain group means except motor independence were in the average range (±1 standard deviation). Variability within the group with respect to physical phenotype (high spinal lesions were associated with poorer motor independence) and medical history [a greater number of shunt revisions (>4) were associated with poorer functional numeracy] was predictive of quality of life. Both spinal lesion level and number of shunt revisions influenced occupational status. There was a relation between everyday mathematics, reading skills, and quality of life. The consequences of the physical, medical, and cognitive effects of spina bifida extend into young adulthood and have an impact on quality of life.
107 citations
TL;DR: The incidence of GMH/IVH among preterm neonates was 44.68%.
Abstract: Germinal matrix and intraventricular hemorrhage (GMH/IVH) is a known complication occurring in the first week of life in preterm neonates. However, the precise time of its occurrence and the ideal time to perform diagnostic imaging studies remain controversial. The purpose of this paper is to address these two issues in our patient population to allocate our resources to those at highest risk. This study included 282 premature newborns (under 37 weeks of gestation) that were admitted to our neonate ICU in a year’s time and screened for GMH/IVH. They were grouped in four categories according to their weight at birth, and according to their gestational age. All patients had a daily cranial ultrasound during the first week. It was then repeated once in the second week and once in the third. We found that the incidence of GMH/IVH among preterm neonates was 44.68%. It was inversely related to the weight and the age of the newborn. The onset of bleeding coordinated with the occurrence of hypoxia and respiratory distress requiring mechanical ventilation. The majorities occurred in the first 7 days of life; they were mostly grade I and II according to the Papule classification and silent for the most part. Complications were present in 41% of the survivors.
106 citations
TL;DR: There are clear indications for hemispherectomy in children, and among the latter, peri-insular hemispherotomy provides, in the opinion, the best complications–benefits ratio.
Abstract: Outline the indications, investigation, surgical technique, pitfalls, complications and benefits of peri-insular hemispherotomy (PIH) in the surgical treatment of paediatric epilepsy. This report is based on a consecutive series of 43 children who underwent PIH. Sixty percent were males; there were slightly more left-sided surgeries. Median interval between seizure onset and surgery was 5 years. In more than half the cases, the anatomical substrate was congenital. There were few complications: one death, one hydrocephalus and two anatomically remote haemorrhages. Ninety percent of the patients have remained in Engel’s class I epilepsy outcome. There are clear indications for hemispherectomy in children. In some instances of incomplete deficit, timing of surgery remains a major concern. The less invasive approach to eliminate the influence of the diseased hemisphere, in our opinion, is with disconnective techniques of hemispherectomy, and among the latter, peri-insular hemispherotomy provides, in our opinion, the best complications–benefits ratio.
102 citations
TL;DR: The presentation of arterial aneurysms in children under the age of 1 year differs from that in adults with a significantly higher prevalence of giant aneurYSms in the posterior circulation.
Abstract: Objective Intracranial aneurysms are very rare in early childhood. Because the location, morphology as well as the clinical and radiological presentation of these aneurysms seem to be different from those in adults, we performed a systematic review of the literature to discuss the clinical, morphological, and radiological features of intracranial aneurysms in the first year of life. Materials and methods A computerized search of both Pubmed and EMBASE from before 1966 to 2005 was performed. Included were all articles that dealt with cases in which an intracranial aneurysm was demonstrated in children under 1 year of age. Results We found 110 articles in which 131 cases of an intracranial aneurysm in children under 1 year were presented. The mean age at diagnosis of the aneurysm was 4.9±3.5 months with a male to female ratio of 1.1. There was a hemorrhagic presentation in 73% (n=96). The patients presenting with a hemorrhage were younger (mean 4.3 vs 6.7 months, P 2.5 cm). The giant aneurysms were significantly more often located in the posterior circulation (43 vs 16%, P=0.01). The mean period of follow-up was 13.6±24.8 months. The Glasgow Outcome Scale (GOS) could be derived in 106 cases: 50% had an excellent outcome (GOS of 5). Conclusions The presentation of arterial aneurysms in children under the age of 1 year differs from that in adults with a significantly higher prevalence of giant aneurysms in the posterior circulation. The prevalence of aneurysms on the MCA is nearly three times higher than on any other vessel. The patients presenting with a hemorrhage were younger and tended to have smaller-sized aneurysms. Our study did not confirm the male predominance that has thus far been associated with pediatric aneurysms. The outcome is comparable or slightly better than in adults.
TL;DR: The data suggest that speech deficits are chronic if not permanent sequelae of TCM, and survivors who had TCM showed more speech deficits than controls or survivors without TCM.
Abstract: Following cerebellar tumor resection, some patients develop transient cerebellar mutism (TCM). Although the mutism resolves, it is not known whether there are long-term motor speech deficits in patients with TCM that are in excess of those in individuals with cerebellar tumors who had not developed postoperative TCM. Long-term survivors of cerebellar tumors resected in childhood who developed TCM were matched to survivors without TCM and to controls. Speech samples were formally analyzed by two speech pathologists. Tumor survivors who had TCM had significantly more ataxic dysarthric speech and slower speech than either those without TCM or controls and were more dysfluent than controls. Tumor survivors without TCM did not differ from controls on ataxic dysarthria or speech rate. Survivors who had TCM showed more speech deficits than controls or survivors without TCM. The data suggest that speech deficits are chronic if not permanent sequelae of TCM.
TL;DR: Early decompressive craniectomy employed in the first few hours after injury before the onset of irreversible ischaemic changes may be an effective method to treat the secondary deterioration that commonly leads to death or severe neurological deficit in children who suffered severe head injury.
Abstract: Introduction
We compared the effect of early decompressive craniectomy (<24 h) vs non-operative treatment on the outcome of children with refractory intracranial hypertension after severe traumatic brain injury.
TL;DR: In appropriately selected patients, sessile hypothalamic hamartomas can be removed completely or they can be completely disconnected from the hypothalamus with an acceptable risk.
Abstract: Introduction
There is increasing evidence that removal or disconnection of hypothalamic hamartomas can lead to seizure control and improvement in behavior. The purpose of this study is to report our experiences with endoscopic removal of these hamartomas.
TL;DR: There is a clear impact of age on ETV failure rate even when excluding etiological factors, and the probability of ETV success gradually increases during the first months of life.
Abstract: Patient’s age and etiology of hydrocephalus are the most important factors influencing the success rate of endoscopic third ventriculostomy (ETV). Failure rates are reported to be particularly high in the first year of age. On the basis of our own data and a metaanalysis of the literature, we try to further define the impact of age on ETV success in infants younger than 1 year. Only patients with a minimum follow-up of 12 months were considered. Between October 1994 and July 2004, 28 patients younger than 1 year underwent ETV in our institution. Age ranged from 8 to 311 days (median 96). The etiology of hydrocephalus was aqueductal stenosis (AS) in all patients (idiopathic in 13, posthemorrhagic in three, postmeningitic in four, and related to CNS or vascular malformation or to tumor in eight). ETV failure was defined as subsequent need for shunt implantation. The metaanalysis of the literature took into account reported series on ETV in infants with detailed data on age and etiology in every single patient. In our own patients, ETV was successful in 13 patients and eventually failed in 15. In the ETV success group, the median age was 200 days and the mean age was 176 days (range 13–311 days). In the ETV failure group, the ages were 105 days (median), 117 days (mean), and 8–299 days (range). The differences were not statistically significant. Age distributions in both outcome groups showed a tendency of failures to occur more frequently in the first 2–4 months of life. The separate analysis of patients with idiopathic AS yielded similar figures and distributions. The data from the metaanalysis of the literature corresponded to our own results. There is a clear impact of age on ETV failure rate even when excluding etiological factors. The probability of ETV success gradually increases during the first months of life. The consequence of these findings for decision-making as well as parental counseling is to try to weigh the age of the infant and its estimated impact on ETV success with other factors guiding the decision to perform ETV or shunt in the treatment of obstructive hydrocephalus.
TL;DR: Callosotomy is a major and destructive but affordable surgical procedure as compare to the relative simple but costly extracranial procedure of VNS therapy, but is a safe and effective palliative operation in neurosurgeons familiar with the surgical procedure.
Abstract: For children of medical resistant epilepsy without resectable epileptogenic zone, corpus callosotomy and vagus nerve stimulation (VNS) therapy are the two commonly used palliative epilepsy surgeries that can be considered. Although their routes and mechanisms to control epilepsy are different, both surgeries have shown their efficacy in selected candidates. The most common candidates for palliative surgery are in infants and children with organic encephalopathic types of epilepsy including infantile spasms/West syndrome, Lennox–Gastaut syndrome (LGS), severe epilepsy with multiple independent spike foci (SE-MISF) and selected symptomatic partial epilepsy to relief seizures and to stabilize co morbidities (Hirsch and Arzimanoglou, Revue Neurologique [Hirsch E and Arzimanoglou A, Rev Neurol (Paris). 160 Spec No 1:5S210–S219, (2004); Ohtahara S and Yamatogi Y, J Clin Neurophysiol 20(6):398–407, (2003); Wheless JW and Epilepsia 45(Suppl 5):17–22, (2004); Trevathan E, J Child Neurol 17 Suppl 2:2S9–2S22, (2002)]. Callosotomy is a major and destructive but affordable surgical procedure as compare to the relative simple but costly extracranial procedure of VNS therapy. However, callosotomy is a safe and effective palliative operation in neurosurgeons familiar with the surgical procedure. Equipments for callosotomy can be as simple as headlight and binocular loupes, self-retention brain retractor, bipolar cauterization, and simple microinstruments.
TL;DR: Hemimegalencephaly is the most effective treatment to control seizure, and it also seems to provide good results on the psychomotor development when performed early, as demonstrated by the literature review and by the reported personal series reported here.
Abstract: Introduction
Hemimegalencephaly (HME) is a quite rare malformation of the cortical development arising from an abnormal proliferation of anomalous neuronal and glial cells that generally leads to the hypertrophy of the whole affected cerebral hemisphere. The pathogenesis of such a complex malformation is still unknown even though several hypotheses are reported in literature.
TL;DR: SEREG explorations are indicated whenever the noninvasive tests fail to adequately localize the epileptogenic zone (EZ) and to obtain a detailed functional mapping of critical cortical and subcortical regions.
Abstract: Stereotactic placement of intracerebral multilead electrodes for chronic EEG recording of seizures or stereoelectroencephalography (SEEG) was introduced 50 years ago at Saint Anne Hospital in Paris, France for the presurgical evaluation of patients with drug-resistant focal epilepsy. SEEG explorations are indicated whenever the noninvasive tests fail to adequately localize the epileptogenic zone (EZ). Currently, approximately 35% of our operated-on children require a SEEG evaluation. Arrangement of electrodes is individualized according to the peculiar needs of each child, to verify a predetermined hypothesis of localization of the EZ based on pre-SEEG anatomo-electro-clinical findings. Multilead intracerebral electrodes are designed to sample cortical structures on the lateral, intermediate, and mesial aspect of the hemisphere, as well as deep-seated lesions. Stereotactic stereoscopic teleangiograms and coregistered 3-D MRI are employed to plan avascular trajectories and to accurately target the desired structures. Pre-SEEG stereotactic neuroradiology and electrode implantation are usually performed in separate procedures. Electrodes are removed once video-SEEG monitoring is completed. Intracerebral electrical stimulations are used to better define the EZ and to obtain a detailed functional mapping of critical cortical and subcortical regions. Surgical morbidity of SEEG is definitely low in children. In 90% of evaluated children, SEEG provides a guide for extratemporal or multilobar resections. SEEG-guided resective surgery may yield excellent results on seizures with 60% of patients in Engel’s Class I.
TL;DR: The endoscopic approach to the treatment of colloid cysts is safe, effective and well accepted by patients, and the controversy with the traditional microsurgical treatment remains open.
Abstract: Microsurgical resection, stereotactic aspiration and VP shunt have for years been the choice options for the treatment of colloid cysts of the third ventricle. Recently, endoscopic approaches have aroused increasing interest and gained acceptance. Although safer, this minimally invasive approach is considered less efficacious than microsurgery. Relatively long-term results are now available and some conclusions might be inferred on the usefulness of this procedure. Between 1994 and 2005, 61 patients harbouring a colloid cyst of the third ventricle were treated with neuroendoscopic technique in 11 Italian neurosurgical centres. Cyst diameters ranged from 6 to 32 mm. A flexible endoscope was used in 34 cases, a rigid one in 21, both instruments in six. The technique consisted in cyst fenestrations, colloid aspiration, coagulation of the internal cyst wall and, occasionally, capsule excision. Mean postoperative hospital stay was 6.7 days. Early postoperative neuroimaging revealed a cyst residue in 36 cases (mean diameter 4.3 mm). There were two complications (3.2%). Follow-up varied between 1 and 132 months (mean 32 months, more than 5 years in 17 patients). There were seven asymptomatic recurrences, three of them evolving from a previous residue. The endoscopic approach to the treatment of colloid cysts is safe, effective and well accepted by patients. Although asymptomatic, recurrences (11.4%) cast a persisting shadow on the long-term results, and, therefore, the controversy with the traditional microsurgical treatment remains open.
TL;DR: Electrophysiological, radiological and pathophysiological studies have confirmed the intrinsic epileptogenicity of the hypothalamic hamartoma and the most effective surgical route appears to be the transcallosal anterior interforniceal approach.
Abstract: Hypothalamic hamartomas are rare congenital lesions of the tuber cinereum presenting with the classic triad of gelastic epilepsy, central precocious puberty and developmental delay. The clinical course in the majority is one of progression, commencing with gelastic seizures in infancy, deteriorating into more complex seizure disorders and resulting in a catastrophic epilepsy associated with a concomitant cognitive and behavioural decline. Electrophysiological, radiological and pathophysiological studies have confirmed the intrinsic epileptogenicity of the hypothalamic hamartoma. Secondary generalised epilepsy seen in this condition is theorised to be through propagation via the mamillothalamic pathways with attachment to the mamillary bodies identified on MRI. Indications as to timing for surgery remain ill-defined although there is a theoretical argument to intervene before the development of secondary generalised epilepsy. Currently, the most effective surgical route appears to be the transcallosal anterior interforniceal approach although newer approaches of endoscopic disconnection and radiosurgery are being assessed.
TL;DR: The case of a 10-year-old girl with features suggestive of Rasmussen encephalitis, with refractory partial motor dextrolateral seizures followed by development of hemiparesis and with progressive intellectual deterioration is presented.
Abstract: Parry–Romberg syndrome (progressive facial hemiatrophy) is a unilateral, slowly progressive atrophy affecting the skin, subcutaneous tissues, muscles, and bones. The relationship between Parry–Romberg syndrome and connective tissue disorders, especially scleroderma en coup de sabre, is still unclear. The neurological symptoms, including epilepsy, migraine, and brain lesion, on neuroimaging may be similar. Rasmussen encephalitis (RE) is connected with chronic inflammation and damage of one hemisphere. Clinically, it is manifested by epileptic partial seizures and unilateral neurological symptoms. The authors present the case of a 10-year-old girl with features suggestive of RE, with refractory partial motor dextrolateral seizures followed by development of hemiparesis and with progressive intellectual deterioration. At the age of 2 years, some changes on the left part of the face typical of Parry–Romberg syndrome or a linear form of scleroderma were noticed. The authors discussed the difficulties in differential diagnosis in that patient. The presented girl constitute the case from the borderline zone of the aforementioned disorders.
TL;DR: The preservation rate of ipsilateral vision was 25%, while that of contralateral vision was 83% (P<0.001), and the overall and progression-free survival rates at 5 years were 93.6 and 52.4%, respectively.
Abstract: The goals of this study were to evaluate the surgical outcomes of optic pathway glioma (OPG) and to analyze the prognostic factors related to the progression-free survival. A retrospective review was conducted on 33 patients who underwent surgery for OPG; these included 15 male and 18 female patients with a mean age of 8.3 years. The mean duration of follow-up was 52 months. The preservation rate of ipsilateral vision was 25%, while that of contralateral vision was 83% (P<0.001). There was no remarkable endocrine improvement after surgery. The overall and progression-free survival rates at 5 years were 93.6 and 52.4%, respectively. In our study, the predictors for tumor progression were children younger than 5 years of age (p=0.023) and of female gender (p=0.022). Because of the variable course of OPG, treatment policy should be optimized individually according to patient’s status.
TL;DR: Cutaneous markers in a high percentage accompany spinal malformations and can aid the clinician in further diagnostic and therapeutic work, due to the correlations to the underlying malformation.
Abstract: This study was conducted to investigate the frequency and type of cutaneous stigmata in different forms of occult spinal dysraphism (OSD) and their correlation to the underlying malformation. Fourteen different forms of spinal malformations were identified in 358 operated patients with OSD. Most frequent findings (isolated or in combinations) were spinal lipoma, split cord malformation, pathologic filum terminale, dermal sinus, meningocele manque, myelocystocele and caudal regression. Stigmata were present in 86.3% of patients, often in various combinations. Using a binary logistic regression analysis, significant correlations with distinct malformations were found for subcutaneous lipomas, skin tags, vascular nevi, pori, hairy patches, hypertrichosis, meningoceles and “cigarette burn” marks. Cutaneous markers in a high percentage accompany spinal malformations. Due to the correlations of different stigmata to distinct malformations, they can aid the clinician in further diagnostic and therapeutic work.
TL;DR: The signal characteristics on DWI and ADC maps appeared to be strongly correlated to grade in pediatric brain tumors and they may assist with preoperative diagnostic predictions.
Abstract: Diffusion-weighted imaging (DWI) may enhance the radiographic diagnosis of pediatric brain tumors. This study reviews the DWI properties of pediatric brain tumors at our institution and examines their relationship to tumor grade and type. The preoperative DWI and apparent diffusion coefficient (ADC) characteristics of brain tumors in 41 children were compared with histologic diagnosis. Signal characteristics on DWI and ADC maps correlated well with tumor grade. High-grade lesions were hyperintense on DWI and hypointense on ADC maps. Sensitivity, specificity, positive predictive value, and negative predictive value were 70, 100, 100, and 91%, respectively. Signal characteristics did not differ among different tumors of the same grade. All primitive neuroectodermal tumors showed diffusion restriction whereas none of the ependymomas did. The signal characteristics on DWI and ADC maps appeared to be strongly correlated to grade in pediatric brain tumors and they may assist with preoperative diagnostic predictions.
TL;DR: The results suggest that familial moyamoya disease is associated with genetic anticipation and female predominance and that a genetic analysis study focused on expanded triplet repeats may clarify the pathogenesis of the disease.
Abstract: This study aims to clarify the genetic background of moyamoya disease by comparing clinical features between familial and sporadic cases to reveal the responsible genes for familial moyamoya disease. This study included 155 Japanese patients with moyamoya disease, which included 24 familial cases (10 family pedigrees) and 131 sporadic cases. Clinical features were compared between the familial and sporadic cases. A female preponderance was significantly more prominent in the familial than in the sporadic group (P=0.0421). Mean age at onset was significantly lower in familial than in sporadic cases (P=0.004). In eight parent–offspring pairs, mean age at onset was significantly lower in the second than in the first generation (P<0.0001). These results suggest that familial moyamoya disease is associated with genetic anticipation and female predominance and that a genetic analysis study focused on expanded triplet repeats may clarify the pathogenesis of the disease.
TL;DR: The risk of developing neurological deficits increases with age; hence, all patients with SCM should be surgically treated prophylactically even if asymptomatic, so as to avoid neurological deterioration immediately after surgery.
Abstract: Methods
A total of 203 patients with split cord malformation (SCM) were operated on at our centre between March 1989 and October 2003. Patients’ demographic profile, radiological and operative details, complications and surgical outcome were evaluated retrospectively.
TL;DR: An oligonucleotide DNA microarray for genome-wide microRNA profiling is developed and a series of microRNAs were found specifically and higher-expressed in the human fetal nervous system and confirmed consistently by Northern blot, which may play a critical role in nervous system development.
Abstract: Objects
Our objective was to develop an oligonucleotide DNA microarray (OMA) for genome-wide microRNA profiling and use this method to find miRNAs, which control organic development especially for nervous system.
TL;DR: This is the first case of pediatric isolated intracranial RDD presenting with giant bilateral petroclival masses successfully managed with bilateral extended middle fossa approach in two stages.
Abstract: Objectives and importance: Rosai-Dorfman disease (RDD) is a rare but distinctive entity of unknown etiology; isolated intracranial RDD is uncommon. Of 37 reported intracranial RDD cases, only three were reported in children. Clinical presentation: We report an unusual case of a 15-year-old boy presenting with 4 months history of raised intracranial pressure with visual deterioration. Computed tomography and magnetic resonance imaging revealed bilateral petroclival enhancing lesions with cavernous sinus extension mimicking meningioma. However, histological examination was diagnostic of RDD. Intervention: The patient underwent extended right-sided middle fossa approach and near-total tumor removal from petroclival region and cavernous sinus on both sides in two stages 6 weeks apart. Conclusion: Ours is the first case of pediatric isolated intracranial RDD presenting with giant bilateral petroclival masses successfully managed with bilateral extended middle fossa approach in two stages. An optimal treatment for RDD is not established, but complete surgical resection alone seems effective.
TL;DR: The authors analyze the features of the 16 cases previously reported in English literature of spontaneously regressed optic gliomas with an overview of the different therapeutic strategies.
Abstract: The authors report their experience about three children (two girls, one boy; average age 1.6 years) with a spontaneous regression of optic gliomas. All of them had a previous diagnosis of neurofibromatosis type 1 (NF 1). None of them underwent surgery or biopsy nor received chemotherapy or radiotherapy. The complete regression was documented by MRI scans performed during a mean follow-up of 6.3 years. Moreover, the authors analyze the features of the 16 cases previously reported in English literature of spontaneously regressed optic gliomas with an overview of the different therapeutic strategies. The knowledge that this kind of tumor, particularly in young patients, may regress is important in the decision of the best therapeutic approach.
TL;DR: MRI is fairly efficient in identifying developmental, epilepsy-associated tumors such as ganglioglioma, the complex, simple and nonspecific forms of dysembryoplastic neuroepithelial tumor, and the rare pleomorphic xanthoastrocytoma.
Abstract: Epilepsy surgery rests heavily upon magnetic resonance imaging (MRI). Technical developments have brought significantly improved efficacy of MR imaging in detecting and assessing surgical epileptogenic lesions, while more clinical experience has brought better definition of the pathological groups. MRI is fairly efficient in identifying developmental, epilepsy-associated tumors such as ganglioglioma (with its variants gangliocytoma and desmoplastic infantile ganglioglioma), the complex, simple and nonspecific forms of dysembryoplastic neuroepithelial tumor, and the rare pleomorphic xanthoastrocytoma. The efficacy of MR imaging is not as good for the diagnosis of focal cortical dysplasia (FCD), as it does not necessarily correlate with histopathological FCD subtypes and does not show the real extent of the dysplasia which may even be missed in a high percentage of cases. Further developments with better, multichannel coils, higher magnetic fields, specific sequences, and different approaches (such as diffusion tensor imaging) for depicting the structural abnormalities may hopefully improve this efficacy. A general review of the MR features of the diverse pathologies concerned with epilepsy surgery in the pediatric context is provided with illustrative images.