Abstract:
:Type I spinal muscular atrophy (SMA) is a rapidly progressive, degenerative neuromuscular disease of infancy. In severe SMA, weakness, hypotonia, and bulbar involvement lead to progressive respiratory insufficiency and swallowing dysfunction, which are frequently complicated by aspirations. There are few studies reported in the literature that address the respiratory management of type I SMA. This article reports the results of treating four patients with infantile SMA with noninvasive positive pressure ventilation and gastrostomy feeding. All patients had gastroesophageal reflux disease, which was managed medically. Despite these therapies, survival was only 1 to 3.5 months after presenting with severe aspirations. The treatment strategy, which can be effective in less rapidly progressive neuromuscular diseases, did not alter the very poor prognosis of type I SMA. The treatment options are reviewed, and a strategy designed to optimize quality of life for infants with this fatal disease is presented.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Birnkrant DJ,Pope JF,Martin JE,Repucci AH,Eiben RMdoi
10.1016/s0887-8994(97)00227-0subject
Has Abstractpub_date
1998-05-01 00:00:00pages
407-10issue
5eissn
0887-8994issn
1873-5150pii
S0887899497002270journal_volume
18pub_type
杂志文章abstract:BACKGROUND:Very-low-birth-weight preterm infants have a higher rate of language impairments compared with children born full term. Early identification of preterm infants at risk for language delay is essential to guide early intervention at the time of optimal neuroplasticity. This study examined near-term structural ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2020.02.007
更新日期:2020-07-01 00:00:00
abstract::A 13-year-old female is described with presumed viral encephalitis, who developed progressive catatonia, agitation, and autonomic dysfunction. The diagnosis of malignant catatonia was made, and the patient improved with electroconvulsive treatment. This article discusses features, causes, differential diagnosis, and t...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2004.10.004
更新日期:2005-03-01 00:00:00
abstract:BACKGROUND:Nuclear polymerase gamma (POLG) mutations are the most common cause of inherited mitochondrial disease. POLG mutation diseases have a broad spectrum of clinical manifestations; the lethal infantile form is myocerebrohepatopathy spectrum. PATIENT:A 4-month-old boy was referred for poor feeding, emesis, failu...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.06.015
更新日期:2014-11-01 00:00:00
abstract:BACKGROUND:No therapies have been formally approved by the Food and Drug Administration for use in pediatric multiple sclerosis, a rare disease. OBJECTIVE:We evaluated the safety, efficacy, and pharmacokinetics of dimethyl fumarate in pediatric patients with multiple sclerosis. METHODS:FOCUS, a phase 2, multicenter s...
journal_title:Pediatric neurology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.pediatrneurol.2018.03.007
更新日期:2018-06-01 00:00:00
abstract::Although brainstem immaturity has been postulated as one of the pathogenesis underlying cyanosis during feeding (CDF), there has been no widely accepted physiologic parameter that reflects brainstem function. We recently proposed that the dissociation index (DI), one of the phasic sleep parameters, is a reliable and q...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(91)90085-y
更新日期:1991-05-01 00:00:00
abstract::Guillain-Barré syndrome and acute myelitis represent common and very rare etiologies of acute limb weakness in children, respectively. Typically, demyelination is most common, limited to either the central or peripheral nervous system. Concurrent acute myelitis and Guillain-Barré syndrome are seldom reported. We retro...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.08.013
更新日期:2011-02-01 00:00:00
abstract::The purpose of this study was to search for STA gene defects in three families with clinically typical Emery-Dreifuss muscular dystrophy. Emery-Dreifuss is an X-linked muscular dystrophy with humeroperoneal weakness and life-threatening, but treatable, cardiac abnormalities in male patients and in female carriers. The...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(99)00023-5
更新日期:1999-07-01 00:00:00
abstract::This study used xenon 133 inhalation and single-photon computed tomography to measure regional cerebral blood flow during a quiet resting condition, a simple auditory task, and an auditory phonemic discrimination task in 3 age-matched groups of children suffering from developmental language disabilities: expressive dy...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(94)90062-0
更新日期:1994-02-01 00:00:00
abstract:PURPOSE:We evaluated the clinical, electrophysiological, imaging, and ultrastructural features of neuronal ceroid lipofuscinoses and its subtypes. METHODS:The clinical, electrophysiological, imaging, histopathological, and ultrastructural features of 68 (age at onset: 4.3 ± 5.4 years) neuronal ceroid lipofuscinoses an...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.08.008
更新日期:2014-01-01 00:00:00
abstract::The case reports of 4 pediatric patients illustrate the complex clinical scenarios in which childhood rhabdomyolysis/myoglobinuria occurs. Children ranged in age from 8-18 years. Presumed etiologies of rhabdomyolysis/myoglobinuria included Neisseria sepsis, exertion-related episodes, dialysis disequilibrium, and diabe...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(91)90091-x
更新日期:1991-05-01 00:00:00
abstract:BACKGROUND:Distinguishing patients with psychogenic nonsyncopal collapse (PNSC), a conversion disorder that resembles syncope, can pose a difficult clinical challenge. Using the open-ended question "what does it feel like to faint?," the present study aimed to characterize how patients with PNSC perceive and communicat...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2019.02.006
更新日期:2019-06-01 00:00:00
abstract::A 4-year-old male developed encephalitis 2 weeks after the onset of varicella. During his evaluation neuroradiologic procedures documented cerebellar edema and demyelination. Cerebrospinal fluid titers confirmed varicella encephalitis. To our knowledge, this patient is the first reported with focal cerebellar edema, a...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(88)90054-9
更新日期:1988-03-01 00:00:00
abstract::Psychogenic seizures or psychogenic nonepileptic seizures occur in various mental disorders. Obsessive-compulsive symptoms can also imitate epileptic partial seizures, but detailed observations of this phenomenon are rare in the literature. A girl of 13 years was referred to the Department of Child Psychiatry because ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)00135-5
更新日期:1998-01-01 00:00:00
abstract::Current evidence suggests that the effects of lithium on metabolic and signaling pathways in the brain may vary depending on the specific clinical condition or disease model. For example, lithium increases levels of cerebral N-acetyl aspartate in patients with bipolar disorder but does not appear to affect N-acetyl as...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.04.015
更新日期:2005-10-01 00:00:00
abstract::In patients who undergo metabolic decompensation from urea cycle disorders, cerebrospinal fluid glutamine level may be a better marker of cerebral dysfunction than blood ammonia or glutamine levels. However, obtaining cerebrospinal fluid by lumbar puncture carries risk in these acutely ill patients with cerebral edema...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2004.07.013
更新日期:2005-02-01 00:00:00
abstract::This article describes an 8-month-old boy with the full clinical spectrum anti-N-methyl-d-aspartate receptor encephalitis. He was admitted to the hospital with involuntary orofacial head movements, behavioral changes, and fluctuation in consciousness. His examination showed tongue thrusting, decreased responsiveness, ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.12.032
更新日期:2013-05-01 00:00:00
abstract::Early-onset ataxia with oculomotor apraxia and hypoalbuminemia is an autosomal recessive cerebellar ataxia characterized by oculomotor apraxia, peripheral neuropathy, and hypoalbuminemia. Mutations in aprataxin gene located at chromosome 9q13 have been identified recently in Japanese and European patients. This study ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.01.012
更新日期:2005-07-01 00:00:00
abstract::Four families are described with an autosomal dominant illness characterized by the childhood onset of recurrent attacks of prolonged ataxia, server vertigo, and vomiting. The attacks often begin in infancy. On the average, attacks occur monthly, and last between one hour to more than a week. Variations in severity oc...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(86)90037-8
更新日期:1986-01-01 00:00:00
abstract::Positron emission tomography (PET) using 18F-labeled 2-deoxy-D-glucose was performed serially in 5 infants with idiopathic West syndrome. While tonic spasms persisted, 2 infants had hypometabolism in the bilateral temporo-parieto-occipital regions, which disappeared after cessation of spasms. In 2 other infants, PET r...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(93)90021-4
更新日期:1993-11-01 00:00:00
abstract::The antiepileptic drug felbamate has demonstrated efficacy against a variety of seizure types in the pediatric population, particularly seizures associated with Lennox-Gastaut syndrome. Postmarketing experience, however, revealed serious idiosyncratic adverse effects not observed during clinical trials, including apla...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.02.013
更新日期:2010-06-01 00:00:00
abstract::Mitochondrial oxidation of a variety of substrates produces the bulk of energy requirements for most cell types. Impairment of oxidative metabolism may result in a broad spectrum of clinical signs and symptoms. A disorder of oxidative metabolism should be suspected when an unexplained association of signs and symptoms...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/0887-8994(93)90041-a
更新日期:1993-03-01 00:00:00
abstract::Gangliogliomas are rare neurogliogenic tumors of the central nervous system. Primary involvement of the brainstem is characterized by variable presentations and a long clinical course before diagnosis. Identification of this group of tumors is essential because clinical improvement and prolonged survival have been doc...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/0887-8994(86)90014-7
更新日期:1986-05-01 00:00:00
abstract::Cardiac arrhythmia may be one of the major causes of sudden unexpected death in children with epilepsy. We assessed drug-induced QT prolongation to establish whether the use of antiepileptic drugs contributes to sudden unexpected death. A total of 178 children with epilepsy (93 males and 85 females, with ages ranging ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/S0887-8994(03)00405-3
更新日期:2004-02-01 00:00:00
abstract::Miller-Dieker syndrome (MDS) is a prototype of brain malformations characterized by abnormal neuronal migration. To clarify the pathomechanisms underlying these anomalies, we performed immunohistochemical studies using specific antibodies against the protein product of LIS-1, the candidate gene responsible for the MDS...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(96)00260-3
更新日期:1997-01-01 00:00:00
abstract::The Publisher regrets that this article is an accidental duplication of an article that has already been published, http://dx.doi.org/10.1016/j.pediatrneurol.2014.07.002. The duplicate article has therefore been removed. The full Elsevier Policy on Article Removal can be found at http://www.elsevier.com/locate/withdra...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.08.001
更新日期:2014-08-07 00:00:00
abstract::To explore the mechanisms of central nervous system involvement in children with Henoch-Schönlein purpura, levels of lupus anticoagulant, anticardiolipin antibodies, and anti-β2 glycoprotein I antibodies in serum and cerebrospinal fluid were determined in 46 cases of Henoch-Schönlein purpura with central nervous syste...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.05.024
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND:We describe the growth and nutritional status of children with cerebral palsy (2 to 18 years old) in West China and to explore the correlation between the nutritional status and age, gender, and gross and fine motor function. METHODS:We performed a cross-sectional survey of children registered as having cer...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.01.002
更新日期:2016-05-01 00:00:00
abstract::A syndrome of rigidity, bradykinesia, spasticity, and often myoclonus and dementia developed acutely in 5 patients who had undergone successful engraftment of bone marrow transplants for the treatment of various hematologic diseases. Magnetic resonance imaging demonstrated widespread changes in white matter; brain bio...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(91)90031-f
更新日期:1991-11-01 00:00:00
abstract:BACKGROUND:Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.05.016
更新日期:2014-09-01 00:00:00
abstract::Parry-Romberg is a rare syndrome of unknown origin, characterized by hemiatrophy of the face including subcutaneous tissue, skeletal muscle, and bones, along with various ocular and central nervous system abnormalities. Some investigators consider that injury to the sympathetic fibers of the trigeminal nerve is a caus...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.11.007
更新日期:2009-04-01 00:00:00