Abstract:
:We here report a 13-year-old Marfan patient who suffered from severe, medication-resistant, intermittent headache, which was provoked when getting into an upright position and immediately relieved by lying down or after intravenous rehydration. The postural benefit and the sudden relief after intravenous hydration suggested (intermittent) intracranial hypotension, although a normal opening pressure on lumbar punction was observed and no cerebrospinal fluid (CSF) leakage was identified. Imaging studies revealed severe dural ectasia at lumbosacral level, and two intradural cysts and two extradural presacral cysts were detected. Most likely, altered hydrodynamics in intra- and extracranial spinal meningeal cysts caused intermittent CSF hypotension above these cysts, resulting in intermittent intracranial hypotension. Surgical marsupialisation of the intradural cysts proved to be effective. This resulted in a significant reduction of the headache during the clinical follow-up of eight years.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Voermans NC,Dijk KG,Bos MM,Geus-Oei LF,Verrips A,Lindert EJdoi
10.1055/s-0029-1243164subject
Has Abstractpub_date
2009-08-01 00:00:00pages
201-4issue
4eissn
0174-304Xissn
1439-1899journal_volume
40pub_type
杂志文章相关文献
NEUROPEDIATRICS文献大全abstract:BACKGROUND:Leukoencephalopathy associated with dysmorphic features may be attributed to chromosomal abnormalities such as 17p13.3 microdeletion syndrome. CASE:A 19-year-old female patient was referred to our hospital for diagnostic evaluation of her leukoencephalopathy. She demonstrated moderate intellectual disabilit...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0039-1693972
更新日期:2019-12-01 00:00:00
abstract::Barbiturate anaesthesia is used in the treatment of status epilepticus and severe epilepsy of children. EEG is then used as a measure of the depth of anaesthesia, burst suppression being an easily identified EEG pattern. In this case report we describe epileptiform discharges during EEG suppression in two children und...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1073036
更新日期:1994-10-01 00:00:00
abstract:BACKGROUND:Danon disease is caused by a primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). MATERIALS AND METHODS:Our study describes a 19-year-old man with isolated hypertrophic cardiomyopathy, in whom we performed DNA analysis and compared results of microscopic analysis of skeletal and cardiac mu...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0033-1336017
更新日期:2013-10-01 00:00:00
abstract::Positron Emission Tomography (PET) with 2-deoxy-2 [18F]-fluoro-D-glucose provides a measure of functional brain activity, particularly in the dendritic field. In CLN3 (juvenile neuronal ceroid lipofuscinosis or juvenile Batten disease, with fingerprint inclusions) hypometabolism slowly spreads from calcarine to anteri...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973675
更新日期:1997-02-01 00:00:00
abstract::Bilateral loss of median nerve cortical somatosensory evoked potentials (SEP) in comatose patients is reported to be one of the most discriminating predictors of poor outcome. We reviewed 53 children with bilateral absent cortical SEP with respect to their outcome and their follow-up SEP. Brain injury was caused by gl...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2001-19123
更新日期:2001-10-01 00:00:00
abstract::Lacosamide (LCM) due to no known drug interaction and the absence of metabolic enzyme induction is a good candidate for an add-on medication, especially in combination with lamotrigine, levetiracetam (LEV), oxcarbazepine, topiramate, and valproic acid (VPA). Here we report for the first time, to our knowledge, that LC...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0037-1600112
更新日期:2017-06-01 00:00:00
abstract::Intracerebral hemorrhage (ICH) is the most frequent complication in postnatal development of preterm infants. The purpose of the present work is the statistical evaluation of seven standard paraclinical parameters and their association to the development of ICH. Clinical records of 265 preterm infants with gestational...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0038-1677515
更新日期:2019-04-01 00:00:00
abstract::Infant botulism is caused by intestinal colonization by Clostridium botulinum, C. barati or C. butyricum. Infant botulism has only rarely been reported outside the USA. A 3-month-old boy developed constipation, lethargy, feeding difficulties and descending, severe, symmetric weakness. He was breastfed but had also bee...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973716
更新日期:1997-10-01 00:00:00
abstract::We report the clinico-pathological findings regarding a 9 year-old girl with some clinical features of Kleine-Levin syndrome who died suddently as a result of pulmonary embolism in the course of femoro-iliac thrombophlebitis. Neuropathological examination provided evidence of perivascular inflammatory infiltrates and ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071559
更新日期:1993-10-01 00:00:00
abstract::Fibromuscular dysplasia is a segmental, nonatheromatous angiopathy. A 13-year-old patient is reported with stroke. Left-sided carotid angiogram revealed typical findings of fibromuscular dysplasia in the left carotid artery. ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071288
更新日期:1989-08-01 00:00:00
abstract::We describe a rare case of diffuse leptomeningeal oligodendrogliomatosis associated with the human herpes virus 6 variant A (HHV-6 A). A 2-year-old boy presented with progressive neurological symptoms and hydrocephalus. The patient had a VP shunt placement but did not fully recover. HHV-6 A was detected in both CSF an...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2002-36739
更新日期:2002-10-01 00:00:00
abstract::Functional MRI mapping of language areas in children frequently employs a covert verb generation task. Because responses are not monitored, the relationship between fMRI activation and task performance is unknown. We compared fMRI activation during covert and overt verb generation to performance during the overt task....
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0030-1267982
更新日期:2010-10-01 00:00:00
abstract::Clinical, biochemical and morphological findings in a 16-month-old infant girl with pseudo-neonatal adrenoleukodystrophy are reported. The parents were first cousins and the baby was born at term, small for gestational age. The neonatal period was characterized by convulsions resistant to treatment, generalized, sever...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071495
更新日期:1990-11-01 00:00:00
abstract::Brainstem auditory evoked potentials (BAEP) were studied in 93 newborns (49 preterm and 44 fullterm) admitted to the neonatal intensive care unit. One group of 42 infants (28-42 wk CA) were considered at low risk for perinatal complications and served to establish the normal ranges of the BAEP parameters (wave I peak ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052503
更新日期:1986-05-01 00:00:00
abstract::Functional MRI techniques were used to map the position of visual cortex in an awake and a sedated child with congenital anomalies of the posterior hemispheres. In one subject with cortical heterotopia, an activated cortex was found distinct from the structurally abnormal area detected on conventional MRI. In a sedate...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2000-15291
更新日期:2000-02-01 00:00:00
abstract:BACKGROUND:Glutaryl-CoA dehydrogenase deficiency (GDD) is a recessively inherited neurometabolic disorder associated with encephalopathic crises and severe extrapyramidal symptoms. Treatment regimens including glucose and electrolyte infusions during acute illnesses, oral carnitine supplementation and/or a low-protein ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973761
更新日期:1996-06-01 00:00:00
abstract::A 7-year-old boy had symmetrical transient high signal lesions in the external capsules on T2-weighted image during the recovery phase of herpes simplex virus (HSV) encephalitis. Although this finding has never been reported in HSV or other viral encephalitis, a postinfectious allergic mechanism is suspected in this p...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1073016
更新日期:1994-06-01 00:00:00
abstract:OBJECTIVE:This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. METHODS AND RESULTS:In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination a...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0035-1550148
更新日期:2015-06-01 00:00:00
abstract::Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically and by using brain ma...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973503
更新日期:1999-10-01 00:00:00
abstract::Two patients with acute encephalopathy with bilateral striatal necrosis are presented and the literature on the subject is reviewed. The disease is characterized by abrupt onset following a systemic infectious illness, with disturbance of consciousness, absence of speech, dystonic movements of the limbs, general stiff...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071364
更新日期:1992-12-01 00:00:00
abstract::24 healthy full-term newborns underwent polygraphic recordings of EEG, EMG, EOG, ECG, abdominal and thoracic respiration during day-time-sleep. Transient EEG patterns (rhythmic alpha and beta activity, spikes/sharp waves and frontal sharp transients) were visually evaluated and quantified. Rhythmic alpha activity is n...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1059609
更新日期:1982-08-01 00:00:00
abstract::Introduction Guillain-Barré syndrome (GBS) is an autoimmune peripheral neuropathy characterized by demyelination and axonal damage. Biallelic functional polymorphisms in the immunoglobulin G Fc receptors (FcγR)-FcγRIIA: H131/R131, FcγRIIIA: V158/F158, and FcγRIIIB: NA1/NA2 affect the affinity of the IgG-FcγR interacti...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0036-1579633
更新日期:2016-06-01 00:00:00
abstract::Epilepsy is often associated with psychosocial comorbidity and this can be more disabling than the seizure activity. Still, these associated conditions are often underdiagnosed and therefore not sufficiently treated. We studied a large pediatric cohort of 371 patients with epilepsy to identify factors associated with ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0039-3399529
更新日期:2020-04-01 00:00:00
abstract::Autosomal recessive spastic ataxia of Charlevoix-Saguenay is an early onset form of hereditary spastic paraplegia with a peculiar clinical presentation. In addition to cerebellar findings which manifest first with ataxic gait in early life and spasticity, on an evolutionary basis, there is axonal neuropathy, prominent...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2001-16616
更新日期:2001-06-01 00:00:00
abstract::Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene are thought to be a common cause of AR-CMT. Mutations in the periaxin (PRX) gene are rare. They a...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1077085
更新日期:2008-02-01 00:00:00
abstract::A 19-month-old boy presented with acute-onset cerebellar ataxia following immunisation. Ataxia was prolonged with a fluctuating course over a period of two years. Opsoclonus was never observed. Extensive diagnostic studies were negative during this time. Finally, a neuroblastoma was discovered. Ataxia disappeared comp...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2001-13876
更新日期:2001-04-01 00:00:00
abstract::Immunohistochemical study of catecholamine synthesizing enzymes tyrosine hydroxylase (TH) and phenylethanolamine-N-methyl transferase (PNMT) was performed in lower brain stem of 5 controls and 9 sudden infant death "syndrome" (SIDS) cases. No difference was noticed in TH immunoreactive neuronal groups. With anti-PNMT ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071508
更新日期:1993-02-01 00:00:00
abstract::Careful clinical delineation and advances in analytical methods have opened new possibilities for the detection of inherited neurometabolic disorders, some of which require specific CSF analyses for diagnosis. Although patients suffering from these disorders have recognizable phenotypes, there are strong indications t...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-2007-973538
更新日期:1998-04-01 00:00:00
abstract::Aim For children with medical complexity, interdisciplinary treatment approaches are required to address the various aspects defined within the biopsychosocial model. Methods The present study identifies dimensions of the biopsychosocial model to generate a standardized visualized severity score for chronic neurologic...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0036-1584195
更新日期:2016-08-01 00:00:00
abstract::Narcolepsy type 1 (NT1) is a rare central disorder of hypersomnolence characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hallucinations, and fragmented nocturnal sleep usually arising in adolescence or young adulthood. Recently, the childhood NT1 diagnoses have increased for improved disease aw...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0035-1550152
更新日期:2015-06-01 00:00:00