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 awareness and for several cases occurring after the H1N1 pandemic influenza or vaccination. As in adults, the occurrence of NT1 in individuals with a genetic predisposition of the immune system (e.g., human leukocyte antigen, HLA-DQB1*0602) together with the role of environmental triggers (e.g., H1N1 influenza virus, streptococcus β hemolyticus) further supports the autoimmune pathogenesis. Children with NT1 close to disease onset show a peculiar cataplexy phenotype characterized by persistent hypotonia with prominent facial involvement (cataplectic facies) and by a complex mosaic of hyperkinetic movement abnormalities that increase during emotional stimulation. This phenotype progressively vanishes along the disease course leading to the typical picture of cataplexy (i.e., muscle weakness exclusively evoked by strong emotions). This possibly explains in part the misdiagnoses and diagnostic delay. Childhood NT1 also shows behavioral abnormalities and psychiatric disorders, encompassing depressive feelings, hyperactive/aggressive behavior, up to psychotic features. The association with obesity and precocious puberty strikingly suggests that NT1 arising in prepubertal children may reflect a wide hypothalamic derangement secondary to hypocretin neuronal loss. The complexity of the childhood NT1 phenotype claims a multidisciplinary assessment and management, taking behavioral and endocrinological features into account. NT1 indeed is a lifelong disorder with a devastating impact on quality of life, especially when arising across developmental age, and targeted school programs, medicolegal and psychological supports are essential for patients care. Controlled studies are mandatory to assess safety and efficacy of the current symptomatic off-label medications on which also relies the treatment for children with NT1, and hopefully future pathogenetic evidences will pave the way to better disease prevention and therapies to modify the disease course.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Rocca FL,Pizza F,Ricci E,Plazzi Gdoi
10.1055/s-0035-1550152subject
Has Abstractpub_date
2015-06-01 00:00:00pages
181-98issue
3eissn
0174-304Xissn
1439-1899journal_volume
46pub_type
杂志文章,评审相关文献
NEUROPEDIATRICS文献大全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::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::Four cases of hypomelanosis of Ito with typical skin depigmentation and various noncutaneous findings were described. This neurocutaneous syndrome has been well documented by clinical investigations, especially computerized tomography and magnetic resonance imaging of the brain. The literature is surveyed giving speci...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071300
更新日期:1989-11-01 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::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::Computed tomography (CT) of the brain has been used to evaluate potential etiologies of hemiplegic cerebral palsy in a population-based group of 28 children born preterm, in whom an obvious postnatal cause of hemiplegia could be excluded. The CT findings were classified according to a system so constructed to reflect ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071417
更新日期:1991-02-01 00:00:00
abstract::134 preterm infants were investigated in their ability to coordinate sucking and breathing. Of those infants who did not coordinate, 79% showed immature cardiorespiratory control whereas of those who suck and breathe simultaneously only 12% had poor cardiorespiratory control. This finding suggests that in infants with...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071449
更新日期:1990-02-01 00:00:00
abstract::A 23-year-old female patient with clinical manifestations typical of Down's syndrome progressively developed intensifying weakness of the proximal muscles from the age of 16 years. CK levels were distinctly elevated. Electromyography showed myogenic lesions and muscle biopsy a myopathic image with extensive fibre hype...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052416
更新日期:1988-08-01 00:00:00
abstract::We report here the efficacy of amantadine hydrochloride for two patients with alternating hemiplegia of childhood (AHC) that did not respond to flunarizine. Amantadine was administered to one patient at age one year and seven months and to the other at age 25 years. The frequencies and duration of the hemiplegic attac...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2000-12945
更新日期:2000-12-01 00:00:00
abstract::A case of acute cerebellar ataxia with discrete signs of pyramidal and tegmental involvement is reported, several days after recovery from an upper respiratory infection of unknown etiology. Magnetic resonance imaging showed transient pontine lesions, disappearing in the convalescence phase. Laboratory tests establish...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071446
更新日期:1991-11-01 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::We report on two Japanese siblings (one female and one male) with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). They showed profound generalized hypotonia early in infancy and developed infantile spasms with hypsarrhythmia within the first year of life. Abnormal eye movement...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-979771
更新日期:1995-10-01 00:00:00
abstract::We report the management of refractory status epilepticus (SE) by using continuous intravenous infusions of lidocaine in a previously healthy 15-year-old girl with a "catastrophic encephalopathy" in whom a diagnosis of febrile infection-related epilepsy syndrome was supposed. One week after a banal pharyngitis and fev...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0034-1389898
更新日期:2015-02-01 00:00:00
abstract::Ataxia with oculomotor apraxia type 2 (AOA2), a neurodegenerative disorder with juvenile to adolescent onset is caused by mutations within the SENATAXIN gene ( SETX). We performed molecular analyses in six patients showing clinically an AOA2 phenotype and moderate to significant elevated serum alpha-fetoprotein levels...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0029-1214424
更新日期:2008-12-01 00:00:00
abstract::Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder, which is caused by partial deletion of the short arm of one chromosome 4. Brain magnetic resonance (MR) imaging findings are lacking. We report on brain findings in 10 children with WHS. We evaluated the MR imaging films of 10 subjects affected by WHS, which h...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-981685
更新日期:2007-02-01 00:00:00
abstract::The occurrence of mitochondrial mutations with primary pathogenic significance for Leber's hereditary optic neuropathy in patients with a multiple sclerosis-like phenotype and the preferential maternal transmission points to an involvement of the mitochondrial genome in conferring increased susceptibility to MS. To ev...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973583
更新日期:1998-12-01 00:00:00
abstract::This study aimed to investigate whether antenatal taurine can reduce neuronal apoptosis in fetal rat brains with intrauterine growth restriction (IUGR) and its possible mechanisms. A total of 15 pregnant rats were randomly divided into the following three groups: control, IUGR, and IUGR+ antenatal taurine supplements....
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0032-1324730
更新日期:2012-10-01 00:00:00
abstract:OBJECTIVE:This study aims to describe complications related to ventricular catheter systems with subcutaneous reservoirs (VCSR) (such as Ommaya reservoirs) in pediatric patients with brain tumors. METHODS:Retrospective analysis of consecutive patients with a total of 31 VCSR treated at the Children's University Hospit...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0035-1565271
更新日期:2015-12-01 00:00:00
abstract::Headaches in children and adolescents remain a very common problem with migraine being the most common headache disorder to present to medical attention. The approach to the treatment of migraine in children has consisted of treatment with acute and preventive medications, combined with lifestyle modification and beha...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0039-1695785
更新日期:2019-12-01 00:00:00
abstract::We are reporting the unique coexistence of two distinct neuromuscular diseases, myotonic dystrophy and the juvenile form of myasthenia gravis, occurring in one family. A 16-month-old previously healthy female presented with a two month history of bilateral varying drooping of both eyelids and bilateral external ophtha...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052426
更新日期:1987-02-01 00:00:00
abstract::Micro syndrome is a rare condition in which congenital cataracts, microphthalmia, and facial dysmorphism are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation. We report on polymicrogyria and motor neuropathy in a patient with Micro syndrome. These findings provide new ins...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2000-7463
更新日期:2000-08-01 00:00:00
abstract::Following administration of surfactant a marked depression in aEEG activity occurs for about 10 minutes; the mechanism of this depression is unknown. In view of this, twenty-nine preterm infants were investigated with near infrared spectroscopy (NIRS) to evaluate rapid changes in total cerebral haemoglobin concentrati...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071327
更新日期:1992-06-01 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::The lumbar puncture and cerebrospinal fluid (CSF) opening pressure (OP) in children remains an essential diagnostic test for children with suspected elevated intracranial pressure. Recent prospective data have revised the normative CSF OP values and described how clinical variables such as age, depth of sedation, and ...
journal_title:Neuropediatrics
pub_type: 历史文章,杂志文章,评审
doi:10.1055/s-0034-1376202
更新日期:2014-08-01 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::Congenital glioblastoma multiforme is a rare tumor of the central nervous system with unique features. The existing evidence on its pathogenesis, genetic and molecular profile, special characteristics, treatment, and prognosis is reviewed. An increased number of antenatal diagnoses and prolonged survival for those ind...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1601858
更新日期:2017-12-01 00:00:00
abstract::The phenotypic expression of X-linked adrenoleukodystrophy (X-ALD) ranges from the rapidly progressive childhood cerebral form to the milder adrenomyeloneuropathy (AMN) in adults. It is not possible to predict phenotype by mutation analysis or biochemical assays. This study reports on 372 patients ranging in age from ...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-2000-9236
更新日期:2000-10-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to investigate whether modified constraint-induced movement therapy (mCIMT) following a botulinum type A toxin (BoNT-A) injection enhances the effects of the BoNT-A injection into the spastic upper limb of children with hemiplegic cerebral palsy (CP). METHODS:A combined therapy with...
journal_title:Neuropediatrics
pub_type: 临床试验,杂志文章
doi:10.1055/s-0030-1252049
更新日期:2009-12-01 00:00:00
abstract::GM1 and GM2 gangliosidoses are progressive neurodegenerative diseases which accumulate intralysosomal gangliosides--and to a lesser extent oligosaccharides--chiefly in the central and peripheral nervous system owing to deficiencies of beta-galactosidase and hexosaminidases A or/and B, respectively. This intralysosomal...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052389
更新日期:1984-09-01 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