Abstract:
:Two sibs with an encephalopathy, including intracerebral calcification and a white matter disease, are reported. In the younger sister, the cerebrospinal fluid showed chronic pleocytosis and clinically she strictly fits to the diagnosis of Aicardi-Goutières syndrome. Both sisters were affected by a spastic tetraplegia, truncal hypotonia and dystonic posturing, but the clinical course and the neuroradiological findings were milder in the older sister and she showed no cerebrospinal fluid pleocytosis. The present cases and recent reports of intrafamilial variability of Aicardi-Goutières syndrome may raise interesting aspects as to the limits and criteria of this syndrome.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Ostergaard JR,Christensen T,Nehen AMdoi
10.1055/s-2007-973455subject
Has Abstractpub_date
1999-02-01 00:00:00pages
38-41issue
1eissn
0174-304Xissn
1439-1899journal_volume
30pub_type
杂志文章相关文献
NEUROPEDIATRICS文献大全abstract::Alternating hemiplegia of childhood (AHC) is a severe brain disorder, mainly characterised by episodes of hemiplegia, progressive mental retardation, and other severe paroxysmal and permanent neurological symptoms. Clinically and genetically, there is some overlap with sporadic (SHM) and familial (FHM) hemiplegic migr...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2006-924609
更新日期:2006-10-01 00:00:00
abstract::Acute inflammatory processes of the brain tissue and meninges caused by viruses are relatively common and may be caused by a number of different viral agents. The specific etiological agent is not identified in many instances. Most cases completely recover. The prognosis depends upon the severity of the clinical illne...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2006-924164
更新日期:2006-06-01 00:00:00
abstract::Chorea Huntington (CH) is a dominantly inherited, neurodegenerative disease usually with adult onset. The course of CH is characterized by movement disturbances, psychiatric symptoms and it may lead to dementia. Typically death occurs after 10 to 20 years of CH duration. Invariably, the underlying mutation concerns an...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2002-32367
更新日期:2002-04-01 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::Congenital or acquired disorders of hemostasis can cause thrombotic events in adults as well as in children. Recently, acute neurologic complications such as hemiparesis or transitory ischemic attacks (TIA) have been reported in patients with different disorders of hemostasis. In addition, the interaction between anio...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1071573
更新日期:1994-02-01 00:00:00
abstract::Nusinersen, an antisense oligonucleotide enhancing the production of the survival motor neuron protein, is approved for the treatment of spinal muscular atrophy (SMA) but requires repetitive lumbar punctures. Application via a subcutaneous port connected to a permanent intrathecal catheter has been proposed as an alte...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0040-1715481
更新日期:2020-12-01 00:00:00
abstract::Electroencephalographic (EEG) and brainstem auditory evoked response (BAER) findings have not been previously described and correlated with the pathological findings in an autopsied case of neonatal nonketotic hyperglycinemia (NKH). A 38 week gestation male infant presented within two hours of age with stimulus-evoked...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052515
更新日期:1986-08-01 00:00:00
abstract::We report on a 16-year-old girl with a unique neuromuscular disorder characterised by progressive proximal muscle weakness and numerous tubular aggregates, intracytoplasmic, as well as intranuclear inclusions of the IBM type in her muscle biopsy. The clinical features of the presented case, as manifested by the early ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2004-830531
更新日期:2005-02-01 00:00:00
abstract::Developmental language disorder (DLD) is diagnosed when there is a failure of normal language development in a child with normal nonverbal intelligence. The discussion about additional or causal deficits is controversial. In this study a computer-based motor performance series with a tapping, aiming and pegboard movem...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973724
更新日期:1997-12-01 00:00:00
abstract::Rett syndrome affects young girls. The molecular basis is mysterious. One tenable hypothesis can be that the programmed early infantile death of neuronal cells is reprogrammed. The bcl-2 gene on chromosome 22 has been shown to play a role in the apoptosis process. No sequence abnormalities were detected in the bcl-2 g...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1073047
更新日期:1994-12-01 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::Two children with acute transverse myelopathy following adenovirus and Borrelia Burgdorferi infections are presented. The diagnosis stems from the clinical presentation, the determination of specific antibodies in serum and the favorable response to penicillin treatment in the case of neuroborreliosis. Both children m...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071427
更新日期:1991-05-01 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::Neonatal seizures are the most prevalent and distinctive sign of neurologic dysfunction in early life and pose an immense challenge for clinicians. Improvements in neonatal care have increased the survival rate of extremely premature infants, considerably changing the spectrum of underlying etiologies, and instigating...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0039-1693149
更新日期:2019-10-01 00:00:00
abstract::Using the Doppler technique, we followed the postnatal changes of the cerebral blood flow velocity longitudinally. Pulsatility index (PI) was measured in 91 neonates. In 26 normal term infants who were supine, PIs were initially raised (PI = 0.91 +/- 0.10), gradually falling over the first 12 hours after birth and rem...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052484
更新日期:1987-11-01 00:00:00
abstract::We present two patients with congenital cervical spinal atrophy who were born at 37 and 33 weeks of gestation. Both patients were unrelated and had no family history of neuromuscular diseases. They presented at birth with arthrogryposis multiplex and symmetrical severe muscle weakness and wasting confined to the upper...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2001-20410
更新日期:2001-12-01 00:00:00
abstract::The present study comprises the neuroradiological examination (computertomography++, magnetic resonance imaging) of 26 children--9 of them were premature, 16 were full-term and in one patient, no details of the pregnancy were known--all suffering from: a) visual disturbance, not caused by ocular disease or afflictions...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052392
更新日期:1988-02-01 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:: ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0038-1669924
更新日期:2018-12-01 00:00:00
abstract::We report the occurrence of subacute sclerosing panencephalitis (SSPE) in two brothers two years after measles infection. The diagnosis was confirmed by compatible data from medical history, occurrence of autochthonic measles virus (MV) IgG production in the central nervous system (CNS), and pathognomonic EEG changes....
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2003-44672
更新日期:2003-12-01 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::Mutations in the gene for the ganglioside-induced-differentiation-associated-protein 1 on 8q21 were recently reported to cause autosomal recessive Charcot-Marie-Tooth sensorimotor neuropathy. We report a detailed clinical, electrophysiological and genetic study of two young patients harbouring missense GDAP1 mutations...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0028-1085467
更新日期:2008-06-01 00:00:00
abstract:OBJECTIVES:The present study investigates the effect of topical injections of botulinum toxin A into the cephalic salivary glands of children with chronic hypersalivation due to neurodegenerative diseases. METHODS:Five children with hypersalivation due to severe neurological diseases received, under ultrasound guidanc...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2002-37084
更新日期:2002-12-01 00:00:00
abstract::The aims of this study were to suggest the rate of primary progressive (PP) subtype of pediatric onset multiple sclerosis (MS) in Isfahan, Iran, and describe its clinical and paraclinical features. The data of patients were retrieved from Isfahan MS Society (IMSS) database from April 2003 to August 2011. Among 3,843 M...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0032-1329614
更新日期:2013-06-01 00:00:00
abstract::Thiamine metabolism dysfunction syndrome type 2 is also known by other terms including: "SCL19A3 gene defect," "biotin-responsive basal ganglia disease" (BBGD), and "biotin-thiamine-responsive basal ganglia disease" (BTBGD). The worldwide incidence and prevalence of this disorder are unknown, but the syndrome has prim...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1607191
更新日期:2018-04-01 00:00:00
abstract::Etiological factors and long-term prognosis were studied in 562 cases with convulsive disorders in the first year of life; 114 (20.3%) were prenatal, 114 (20.3%) perinatal, 24 (4.3%) postnatal, and 257 cases (45.7%) were cryptogenic. The remaining 53 (9.4%) patients were doubtful cases. The mortality before six years ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1059584
更新日期:1983-11-01 00:00:00
abstract::The fatty acid pattern of serum lecithin was studied in 31 children with hereditary motor and sensory neuropathies (HMSN) of types specified in the classification of Dyck et al. (1975). In 30 children no relevant changes were revealed. The remaining patient had changes which were reversible and were considered to be i...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1059635
更新日期:1981-02-01 00:00:00
abstract::We describe 6 unrelated patients affected by infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) with prolonged survival upon mechanical ventilation (4.5-11 years), which has not been reported before. Biallelic mutations in the IGHMBP2 gene proved the diagnosis of SMARD1 in all patients. Diseas...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2004-820994
更新日期:2004-06-01 00:00:00
abstract::An 11-year-old boy with attention deficit/hyperactivity disorder (ADHD) presented with visual hallucinations several years after starting methylphenidate (MPH). The hallucinations resolved upon discontinuation of the drug. Reports of toxic hallucinosis during treatment with MPH are rare. Although the pathogenetic mech...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0031-1275738
更新日期:2011-02-01 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