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Neuropsychological impairment in early-onset hydrocephalus and epilepsy with continuous spike-waves during slow-wave sleep: A case report and literature review
Annio Posar, Antonia Parmeggiani
May-August 2013, 8(2):141-145
DOI:10.4103/1817-1745.117850  PMID:24082936
Epilepsy with continuous spike-waves during slow-wave sleep (CSWS) is often characterized by a severe cognitive and behavioral impairment. Symptomatic cases also include patients with an early-onset hydrocephalus, but in literature detailed neuropsychological data on these subjects are not available. We describe the results of serial cognitive assessments in a girl with shunted early-onset hydrocephalus, followed by partial epilepsy complicated with CSWS at 4 years 10 months, in which a dramatic cognitive and behavioral deterioration occurred few months after CSWS onset. Adrenocorticotropic hormone treatment improved both clinical and electroencephalogram picture, but an impairment of visual perception, visual-motor coordination and executive functions persisted after CSWS disappearance. We hypothesize, in this case, an involvement of right occipital-parietal lobe and prefrontal lobe.
  23,019 792 -
Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review
Annio Posar, Margherita Santucci
January-April 2014, 9(1):36-38
DOI:10.4103/1817-1745.131481  PMID:24891901
The glucose transport protein type 1 (GLUT1) deficit causes a chronic brain energy failure. The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches). During last years the classic phenotype of this syndrome, as originally reported, has expanded. We report the atypical phenotype of a boy with GLUT1 deficiency syndrome, characterized by mild mental retardation and drug-resistant absence seizures with onset at the age of 6 years, without movement disorders nor decrease of head circumference. A prompt diagnosis of this disorder is mandatory since the ketogenic diet might represent an effective treatment.
  19,109 681 -
Neuropsychological implications of adjunctive levetiracetam in childhood epilepsy
Annio Posar, Grazia G Salerno, Morena Monti, Margherita Santucci, Maria C Scaduto, Antonia Parmeggiani
May-August 2014, 9(2):115-120
DOI:10.4103/1817-1745.139282  PMID:25250063
Introduction: Levetiracetam (LEV) is an effective antiepileptic drug also used in childhood and adolescence. Literature data regarding the long-term effects of LEV in childhood epilepsy and based on extensive neuropsychological evaluations using standardized tools are still scanty. Our study aimed to address this topic. Materials and Methods: We studied 10 patients with epilepsy characterized by focal or generalized seizures (4 boys, 6 girls; mean age: 10 years 8 months; range: 6 years 2 months - 16 years 2 months), treated with adjunctive LEV during a follow-up of 12 months. In 6 patients electroencephalogram (EEG) showed continuous spike and waves during sleep. Using standardized tools, we performed seriated assessments of cognitive and behavioral functioning in relation to seizure and EEG outcome. Results: Six patients completed the trial after 12 months of treatment; 1 patient dropped out of the study after 9 months, 3 patients after 6 months. Adjunctive LEV was effective on seizures in 3/10 patients and on EEG in 2/10 patients, and was well tolerated in all examined cases. Overall, no worsening of cognitive or behavioral functions has been detected during the period of the study; even at 6 and 12 months from baseline, an improvement in patients' abstract reasoning has been found, that was not related to seizure or EEG outcome. Conclusions: In our population of children and adolescents, LEV had no adverse cognitive or behavioral effects, short- or long-term. We found an improvement of abstract reasoning, regardless of seizure and EEG outcome.
  19,031 616 -
Surgical pathology of pediatric epilepsy
Vani Santosh, TC Yasha
January-June 2008, 3(1):55-64
The underlying pathological substrates of localization-related epilepsy are varied. In children, the foremost among these are the malformative disorders of cortical development of which focal cortical dysplasia (FCD) is the most prominent. Other conditions include tuberous sclerosis, Sturge-Weber syndrome, vascular malformations, ischemic lesions and epilepsy-associated tumors. As in adults, medial temporal sclerosis is also a common histopathological finding. Resective surgery for extratemporal lesions is now the treatment of choice as more accurate identification of lesion with modern imaging and electrophysiological techniques is possible and a good surgical outcome is seen in most cases. This review describes the common causal histopathological substrates of epilepsy in children.
  17,971 391 -
Antiepileptic drugs in pediatric epilepsy
Sangeeta H Ravat, Rohit Gupta
January-June 2008, 3(1):7-15
The epilepsies are socially handicapping disorders and even a single seizure occurring in certain circumstances may have disastrous effect. The impact of epilepsy on every aspect of both the lives of the child and family is significant. Issues such as mental retardation, subtle neuropsychologic disturbances, cognitive problems, behavioral problems and learning difficulties are major factors affecting the children with epilepsy. Drug treatment is the major form of therapy for a vast majority of children with epilepsy. The choice of antiepileptic drugs (AEDs) in a child depends on the type of seizures, syndrome diagnosis, age of the patient and its consequent adverse effects. The metabolism of AED also differs according to the pediatric age group, requiring different dose regimens. Here, a brief review of AED used in the pediatric age group is presented.
  16,854 1,463 3
Spinal cord injuries in children
D Muzumdar, Enrique C.G Ventureyra
July-December 2006, 1(2):43-48
Spinal injuries in the pediatric population are relatively rare. Hence there is not enough knowledge, experience and exposure amongst pediatric neurosurgeons about spinal injuries in children. They have to rely on general spinal or pediatric orthopedic colleagues for a comprehensive management of spine and spinal cord trauma. In addition, the advances in spinal instrumentation techniques and vast array of implantable devices for spinal stabilization add to the complexity of the problem. It is imperative that a pediatric neurosurgeon should be aware of the mechanics of spinal injury and recent advances in the management strategy of pediatric spinal injuries.
  17,324 661 5
Hyponatremia in acute neurological disorders - Is it always due to siadh ?
Indira Jayakumar, S Ranjit, C Balasubramaniam
January 2006, 1(3):10-15
Hyponatremia in acute CNS diseases is often attributed to the Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH). Other causes may be in operation and may be overlooked. Aims: The objective of the study was to determine the etiology, evaluate treatment modalites and assess the outcome in children with an underlying acute neurologic disease who were hyponatremic. All these children were admitted to the Intensive Care Unit (ICU). Methods and Materials: This is descriptive hospital based retrospective chart review. Clinical indices of hydration, serum and urine sodium and osmolality were used in children to determine the cause of hyponatremia. In such of those who were hyponatremic, the cause of hyponatremia, treatment and outcome were assessed. Management of hyponatremia depended on etiology and severity of symptoms. Symptomatic patients had serum sodium raised by 3-5 mEq/l in order to control symptoms, following which a more gradual correction was carried out. Children with SIADH were fluid restricted while those with hyponatremic dehydration and Cerebral Salt Wasting (CSW) received supplemental saline and fluids. Results: Out of 1371 Pediatric Intensive Care Unit (PICU) admissions over a 30-month period, 385 (28%) had primary CNS disorders and of these, 58 were hyponatremic. The causes were SIADH in 19 (33%), hyponatremic dehydration in 16 (28%), drug-induced hyponatremia in 13 (22%) and CSW in 10 (17%) patients. About 10 of the 58 hyponatremic patients expired. All deaths were due to the severity of the underlying neurological condition. About 3 patients were hyponatremic at the time of death. Conclusion: The etiology of hyponatremia in acute CNS disease is multifactorial, and is not always due to SIADH. Careful evaluation and targeted therapy is required for the optimal management of these children
  16,204 818 1
Temporal lobe epilepsy in children
Jayanti Mani
January-June 2008, 3(1):2-6
Temporal lobe epilepsy is a fairly homogenous syndrome in adults, with hippocampal sclerosis being the commonest etiology. In children, temporal lobe epilepsy is more commonly due to cortical dysplasia or tumors. The semiology and electrophysiology of temporal lobe seizures in children are distinct from adults and have age-dependent variations. The first-line treatment option in children includes antiepileptic drugs. Ketogenic diet and surgery are therapeutic options in refractory pediatric temporal lobe epilepsy.
  15,810 895 -
Medulloblastoma in children: Prognostic factors and predictors of outcome
Girish Menon, S Nair, T Muthurethinam, K Krishnakumar, RN Bhattacharya
January-June 2006, 1(1):16-20
Objective: To determine the relative contributions of clinical, radiological and histopatholgical predictors of survival in children with medulloblastoma (MB) and to compare it with their adult counterparts. Materials and Methods: Retrospective case record analyses of 79 children (<16 y) operated after Jan. 1990, who have completed at least 5 y of follow-up. The following variables were assessed by bivariate analysis: age, CT scan location of the lesion, brainstem invasion, extent of excision, histological subtype. Statistical analysis was performed using Chi-square test, Fischers test and Student's t test. Results: Near-total to total excision could be achieved in 59 (74.6%) cases. Twenty-three patients (29.11%) required CSF diversion procedures. Histopathology revealed features of classical medulloblastoma in 63.2%, thermoplastic variant in 11% and glial differentiation in 25.3% of cases. Postoperative mutism was seen in 14 (17.72%) patients. All patients received adjuvant therapy. On follow-up, 34 patients were found to have posterior fossa recurrence and four patients were re-operated. An additional 17% of patients were found to have either spinal or supratentorial metastasis on follow-up. The overall 5-year recurrence-free survival rate was 19 (24.05%). Mortality was recorded in 23 patients and nearly 29 patients who were severely disabled on follow-up were referred to terminal care centres. Conclusion: In spite of recent advances in management, children with medulloblastoma still carry a poor prognosis. We observed poor outcome in children below 7 y of age. Vermian location had a better outcome in adults but not in children. Desmoplastic variant was observed to be a significant prognostic factor in paediatric, group while brain stem invasion carried poor prognosis for both.
  16,082 541 3
Neuroimaging in epilepsy
Shahina Bano, Sachchida Nand Yadav, Vikas Chaudhary, Umesh Chandra Garga
January-June 2011, 6(1):19-26
Epilepsy is the most common neurological disease worldwide and is second only to stroke in causing neurological morbidity. Neuroimaging plays a very important role in the diagnosis and treatment of patients with epilepsy. This review article highlights the specific role of various imaging modalities in patients with epilepsy, and their practical applications in the management of epileptic patients.
  15,012 352 -
Bilateral thalamic glioma: Report of four cases and review of literature
Girish Menon, S Nair, T Krishnamoorthy, RN Bhattacharya
July-December 2006, 1(2):66-69
Primary thalamic tumors are rare and bilateral thalamic tumors are even rarer. The incidence, clinical manifestations, natural history and prognosis of primary bilateral thalamic gliomas (PBTT) remain relatively obscure. In this article, four cases of bilateral thalamic gliomas are discussed and the available literature is reviewed. We conclude that primary bilateral thalamic tumors are distinct lesions, as proven by their specific neuroradiological and metabolic properties, unresponsiveness to radiotherapy and chemotherapy as well as a rapidly fatal clinical evolution. Early diagnosis and prompt therapy may delay the devastating effects of this tumor.
  14,074 491 5
Multiphasic disseminated encephalomyelitis, uncommon cause for central demyelination in children
Deepak Goel, Anil Singhal, Rajender K Srivastava, Rahul Jain
July-December 2006, 1(2):60-62
This case report is presented with the aim of discussing differential diagnosis of CNS demyelinating diseases in children below 15 years of age. The various diagnoses range from acute disseminated demyelinating disease to multiple sclerosis. In between the two extremes, we have multiphasic demyelinating encephalomyelitis. We had discussed the role of oligoclonal band in cerebrospinal fluid, auto antibodies and magnetic resonance imaging to differentiate these diagnoses.
  12,424 373 -
Epilepsy and cognition
Joy D Desai
January-June 2008, 3(1):16-29
Epilepsy and cognition have a multi-tiered reciprocal relationship. Alteration in cognitive abilities and performance may occur in tandem with persistent seizures in a patient with epilepsy. Age at onset, type of seizures, frequency of seizures, types of underlying epilepsy syndrome, and the underlying pathological brain substrate driving epilepsy may all have variable and independent effects on cognition. Therapeutic intervention with anti-epileptic drugs (AEDs) variably modulates cognitive abilities in a patient with epilepsy. Pathological substrate specific effects can compound the potential negative effects of AEDs on cognition. In this review all these aspects are addressed with an analysis of relevant evidence from peer-reviewed publications.
  11,683 879 10
Role of hypertonic saline and mannitol in the management of raised intracranial pressure in children: A randomized comparative study
Piyush Upadhyay, VN Tripathi, RP Singh, D Sachan
January-June 2010, 5(1):18-21
DOI:10.4103/1817-1745.66673  PMID:21042500
Objective : To compare the efficacy and side effects of 3% hypertonic saline and mannitol in the management of raised intracranial pressure in children. Design : Prospective randomized study. Setting : Pediatric intensive care unit (PICU) in a tertiary care hospital. Subject : 200 patients with raised intracranial pressure. Materials and Methods : Patients were randomized into two statistically comparable groups; Group A (n = 98) was treated with mannitol while Group B (n = 100) was treated with 3% hypertonic saline. Group C (n = 2) included those members of Group A in whom serum osmolality ≥320 mosmol/kg and were then treated with 3% hypertonic saline. Both Drugs were given at a loading dose of 5 ml/kg stat followed by 2 ml/kg in every 6 h(both have same osmolarity) for two days in their respective groups. Besides monitoring, blood pressure (NIBP), mean arterial pressure (pre and post 30 min of drug), serum sodium, chloride and osmolality were measured. Intracranial pressure was assessed indirectly by measuring mean arterial ressure "MAP". Student paired 't' test was applied. Results : Decrease in MAP was highly significant (P<0.001) at 0 h in males 0,6 h in females, and moderately significant at 12,36 h in females and significant(P<0.05) at 6,24,42 h in males of Group B. Decrease in coma hours was a highly significant finding (P<0.001) in Group B. In Group B, serum sodium and chloride increased significantly but remained within acceptable limits. There was no difference in osmolality and mortality (fisher Z). Conclusion : Mannitol has several side effects, 3% hypertonic saline is a safe and effective alternative in managing cerebral edema.
  11,314 1,021 2
Tumors of the posterior third ventricular region in pediatric patients: The Indian perspective and a review of literature
Sanjay Behari, Sushila Jaiswal, Prakash Nair, Pallav Garg, Awadhesh K Jaiswal
October 2011, 6(3):56-71
Background: Diverse tumors in the posterior third ventricular region (TPTVR) frequently occur in children. A decade's experience with pediatric TPTVR is presented, focusing on the Indian perspective. Materials and Methods: 25 children (age range: 3-18 years; mean age: 13.32 years; presentation range: 7 days-2.5 years) had clinico-radiological assessment with contrast computed tomography (CT) and magnetic resonance imaging (MRI). The ventricular/lumbar cerebrospinal fluid (CSF) alpha feto protein (AFP)/beta human chorionic gonadotrophin (HCG) estimation was done when radiological suspicion of a germ cell tumor was present. Extent of resection was deemed partial when some tumor mass remained at the end of surgery, near total when <10% was retained over vital neurovascular structures, and total when complete resection was attained. Results: Operations included infratentorial supracerebellar approach (n = 12), occipito-transtentorial approach (n = 2), endoscopic biopsy and third ventriculostomy (n = 1), frontal parasagittal craniotomy, interhemispheric transcallosal subchoroidal approach (n = 2), middle temporal gyrus transcortical transventricular approach (n = 1), fronto-temporo-zygomatic combined transylvian and subtemporal approach (n = 1) and right ventriculoperitoneal shunt and stereotactic biopsy (n = 1). Only CSF diversion was performed for five patients with a small TPTVR. CSF diversion was required in 12 (48%) patients. Tumor pathology included pinealoblastoma (n = 4; one with pineocytic differentiation), nongerminomatous germ cell tumor (NGGCT; n = 3), germinoma (n = 3), pilocytic astrocytoma (n = 2), epidermoid (n = 3) and primitive neuroectodermal tumor (PNET), fibrillary astrocytoma, glioblastoma, teratoma, and meningioma (n = 1, respectively). A patient with neurocysticercosis was diagnosed solely on MRI (four did not undergo biopsy). Fractionated radiotherapy was administered in 13 patients with primary pineal tumors, PNET, NGGCT, fibrillary astrocytoma and glioblastoma. Extent of excision was total in 10 (40%), near total in 5 (20%), partial in 3 (12%) and a biopsy in 2 (8%) patients. Conclusions: Histopathologic characterization of TPTVR is essential prior to their further management. Benign lesions often have a good prognosis following gross total surgical resection. Pure germinomas are highly susceptible to radiotherapy. NGGCTs often have malignant components that require adjuvant therapy following surgery. The advancements in microsurgical techniques have led to gratifying perioperative results in these deep-seated lesions.
  10,894 277 -
Aqueductal stenosis and mental retardation associated with O S odontoideum, "hypermobile" atlantoaxial dislocation and congenital stenosis of atlas leading to spastic quadriparesis
Rupant K Das, Sanjay Behari, Namit Singhal, Awadesh K Jaiswal, Ashok K Mahapatra
January-June 2007, 2(1):10-15
Background: The authors report a unique concomitant occurrence of mental retardation, hydrocephalus due to aqueductal stenosis, a freely floating atlas (having anterior, posterior and transverse atlantoaxial dislocation [AAD]) consequent to an orthotopic os odontoideum and stenosis of atlantal ring. There were no features of coexisting chondroskeletal dysplasias or other systemic diseases. To the best of the authors' knowledge, this is the first reported case of its type in the literature. Case Report: This 17-year-old girl with delayed milestones had enlarging head with vomiting at 1 year of age. Her CT scan revealed hydrocephalus with aqueductal stenosis, and she underwent a ventriculoperitoneal shunt. She subsequently had progressive quadriparesis. A minor fall led to transient unconsciousness and aggravation of her symptoms. Radiology of the craniovertebral junction revealed os odontoideum with anterior, posterior and transverse C1-2 subluxation and atlantal ring stenosis with marked cervical compression. A C1 laminectomy with occipitocervical contoured rod fusion with onlay autologous bone graft under guidance of intraoperative image intensifier was performed. Conclusion: The concomitant presence of hydrocephalus due to aqueductal stenosis, mental retardation and congenital stenosis of the atlantal ring points towards a congenital origin for the os odontoideum. The free floating atlantal ring on the axis led to anteroposterior and transverse AAD, necessitating intubation and occipitocervical stabilization in absolutely neutral position of the neck since both flexion as well as extension movements would have been deleterious. Congenital stenosis of atlas is an extremely rare entity; it contributed to cervical canal compromise even in neutral position of the cervical spine when the AAD had been adequately reduced, requiring an additional C1 laminectomy. The simultaneous presence of all these anomalies merited unique management considerations.
  10,556 425 1
Spinal dysraphism
NK Venkataramana
October 2011, 6(3):31-40
To review the clinical features and current understanding of spina bifida with an emphasis on the Indian Scenario. Selected articles and current English language texts were reviewed. The authors experience was also reviewed and analysed. Spina bifida is a common congenital anomaly encompassing a wide spectrum of neural tube defects.It is broadly classified as spina bifida aperta and occulta. With the prenatal screening, the incidence of aperta is gradually declining, whereas the detection of occulta has increased with the advent of magnetic resonance imaging. Over the years, the understanding of pathophysiology has made a significant changein the management of these anomalies. Early detection and complete correction can significantly reduce the neurological disability. This article is an overview of spina bifida with a special emphasis on Indian scenario.
  10,271 513 10
White cerebellum sign - A case report and review of literature
S Dwarakanath, A Bansal, S Rudrappa, S Gopal, NK Venkataramana
January 2006, 1(3):22-23
'White cerebellum sign' is a classic yet uncommon radiological finding in severe pediatric head injury. We present a case of a 7-year-old child who had this finding on computed tomography. We also discuss the possible etiogenesis and review the relevant literature.
  10,268 437 -
Suprasellar arachnoid cyst with bobble-head doll movements: A management option
Vikram Muthusubramanian, Anil Pande, Madhabushi Chakravarthy Vasudevan, Ramamurthi Ravi
January-June 2006, 1(1):24-26
The authors describe their experience with endoscopic ventriculo-cysto-cisternostomy and placement of cisterno-cysto-venticulo peritoneal shunt for suprasellar arachnoid cyst for a child with bobble head doll movements. The abnormal head movements improved and follow up imaging showed reduction in the cyst and ventricular size. The benefits of minimally invasive endoscopic ventriculocystocisternostomy with endoscopic guided placement of cisterno-cysto-ventriculo peritoneal shunt is been discussed.
  9,968 289 1
Cerebellar glioblastoma multiforme presenting as a cerebellopontine angle mass
Anupam Jindal, Awadhesh Kumar Jaiswal, Sushila Jaiswal, Paritosh Pandey, Ashok Kumar Mahapatra, Mehar Chand Sharma
January-June 2006, 1(1):21-23
Cerebellar glioblastoma multiforme (GBM) is a highly malignant brain tumour, which is exceedingly rare and such tumour presenting as cerebellopontine angle (CPA) mass is even rarer. We here discuss the case of a 15-year-old girl who had cerebellar GBM presenting as CPA mass that resembled meningioma on CT scan and was managed successfully with minimal problems.
  9,501 305 2
Presurgical evaluation of epilepsy
Manas Panigrahi, Sita S Jayalakshmi
January-June 2008, 3(1):74-81
The objective of the multimodality presurgical evaluation in patients with refractory epilepsy is to establish sufficient concordance among the various investigations. There should be maximum overlap in the epileptogenic zone, the irritative zone, the ictal onset zone, the functional deficit zone and the symptomatogenic zone. The ictal and interictal electroencephalogram measures the localization of epileptiform discharges, which should be concordant with structural abnormalities noted on MRI brain and functional abnormalities in the form of a zone of hypometabolism on fluorodeoxyglucose positron emission tomography, interictal single photon emission computerized tomography (SPECT) or hyperperfusion of the epileptogenic zone on ictal SPECT for a good surgical outcome. There should be no conflicting data from any of these studies, neuropsychological evaluation or seizure semiology.
  9,320 455 1
Split cord malformations
NK Venkataramana
January 2006, 1(3):5-9
Split cord malformations (SCM) are increasingly being recognized as one of the causes of tethered cord syndrome. Renaming them as SCMs has reduced the conflict in terminology, though the pathogenesis of these complex anomalies still remains controversial. The diagnosis has become easy and certain with the advent of magnetic resonance imaging (MRI). It is necessary to screen the entire spine in order to recognize all the associated anomalies and to plan the management strategies. Aim: To study the role of prophylactic surgery in patients with SCM. Settings and Design: Retrospective clinical analysis. Methods and Material: In a series of 217 children treated with spinal dysraphism from 1994 to 2004 at Manipal Institute for Neurological disorders (MIND), 38 had SCMs and the clinical presentation and surgical outcome was retrospectively analyzed. Statistical analysis used Results: 34 children had isolated SCM, four children had other complex congenital anomalies. 23 children [type 1-18 (47%) and type 2-20 (53%)] were operated prophylactically. They maintained neurological stability after surgery. Among the children with pre-existing neurological deficits, stability was achieved in all and significant improvement in only 8%. Outcome was better in isolated SCM in compression to complex ones. Conclusion: We recommend surgery before the onset of neurological deficits. Surgical results are excellent with good microsurgical technique
  9,327 409 -
Evaluation of mental retardation - Part 1: Etiologic classification of 4659 patients with mental retardation or multiple congenital abnormality and mental retardation
Adnan Yuksel, Hulya Kayserili, Gozde Yesil, Memnune Yuksel Apak
July-December 2007, 2(2):45-52
Patients with multiple congenital abnormalities and mental retardation are the most frequent patient group who are referred to a genetic clinic. Specific diagnosis for these patients will provide a better understanding of the possible reasons of pathogenesis, thereby providing more true information to families on recurrence risk, prognosis, possible treatment options and prenatal diagnosis. With the aim of finding out the etiology of the genetic diseases, 4659 patients who were classified into mental retardation or multiple congenital anomaly and mental retardation (MR or MCA/MR) group who were referred to Istanbul University, Departments of Medical Genetics of Cerrahpasa Medical Faculty and Istanbul Medical Faculty in between 1985 and 2005 were analyzed retrospectively and a two step study was generated: first step involved the etiologic classification of MR or MCA/MR group and the second evaluation of the factors that help in finding out the etiologies such as age at first observation, number and periods of observations and completion of laboratory tests. In the first part of the study, etiologic classification of the patients with MR or MCA/MR who were referred to genetic clinics of the two medical faculty of Istanbul University were mentioned. 2847 patients have had an etiological diagnosis (61.10%): from these patients, 1541 out of them had a chromosomal abnormality (33.07%), 555 were known single gene mutations (11.91%), 20 were recognized syndromes (00.42%), 567 were sequences (12.16%), 6 were associations (00.12%), 29 had spectrums (00.62%), 98 had structural abnormality of CNS (2.10%), and finally, 31 suffered from prematurity and its complications, toxic drugs, infections and hypoxic ischemic encephalopathy. This study will be the one of the biggest studies in Turkey and also around the world, evaluating the most frequent patient group referred to genetic clinics: MCA or MR.
  8,809 784 2
Paediatric intracranial aneurysms
AA Wani, S Behari, RN Sahu, AK Jaiswal, VK Jain
January-June 2006, 1(1):11-15
Intracranial aneurysms in childhood account for 1-2% of intracranial aneurysms.[1],[2] These aneurysms have unique characteristics that make them different from those in adults. These differences are evident in their epidemiology, location, clinical spectrum, association with trauma and infection, complications and outcome.
  9,061 402 3
Primer on pediatric intracranial ependymomas
KK Bansal
January-June 2006, 1(1):5-10
Aims and Objectives: To review the clinical features and current understanding of the biology and management of pediatric ependymoma, critically analysing the different treatment modalities. Materials and Methods: The MEDLINE database, bibliographies of selected articles, and current English-language texts on the subject were reviewed. A Pubmed search was made with keywords pediatric, intracranial, ependymoma, surgery, chemotherapy, and radiotherapy. Most recent articles and also significant older articles having all above said words were selected and their results were compared in detail. Results: Almost all articles stress the complete or near total resection of the tumor at first surgery followed by radiotherapy in patients older than 3 years of age and chemotherapy in younger children. Conformal radiation therapy (CRT) is a technique which has promising results. Conclusion: Local tumor control is single most important prognostic factor. This is best achieved through gross total tumor resection wherever possible. Radiotherapy should be offered to all patients (>3-years age) with focused dose (CRT) to tumor bed. Chemotherapy with the current agents does not appear to hold much promise. However, it may be useful in the context of providing the surgeon with an opportunity to do further surgery on a tumor that is less vascularized.
  8,847 377 -
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