Abstract：
BACKGROUND:Rachischisis totalis is a rare open neural tube defect often associated with lethal acrania. When acrania is not present, mortality remains high and morbidity for survivors is extreme. PATIENT:We describe is a term newborn with in-utero diagnosed rachischisis totalis without acrania and Chiari II malformation with subsequent hydrocephalus. RESULTS:At birth, clinical examination revealed rachischisis totalis without acrania. The spinal defect extended from the mid-cervical to the lower sacral vertebrae. Serial cranial ultrasonography and brain MRI revealed Chiari II malformation with severe hydrocephalus. The spinal defect was closed and a ventriculoperitoneal shunt placed to relieve the hydrocephalus. The clinical course was complicated by significant central apnea, often necessitating aggressive resuscitation and chest compressions. The infant has survived with expected severe developmental delay but has graduated from hospice care. CONCLUSION:This report demonstrates that survival with variable function and quality of life is possible with severe open neural tube defects. A multidisciplinary team approach including family-centered care must be used early to overcome the many ethical challenges that such patients present.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Meadows JT Jr,Hayes D Jrdoi
10.1016/j.pediatrneurol.2014.02.019subject
Has Abstractpub_date
2014-07-01 00:00:00pages
123-5issue
1eissn
0887-8994issn
1873-5150pii
S0887-8994(14)00147-7journal_volume
51pub_type
杂志文章abstract：BACKGROUND:Individuals with Duchenne muscular dystrophy have an increased risk of long bone fractures. Such fractures are sometimes associated with brain dysfunction due to fat embolism syndrome, although this syndrome has seldom been documented in muscular dystrophy patients. PATIENT DESCRIPTION:We describe a child w...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.05.013
更新日期：2016-10-01 00:00:00
abstract：:We report on a 16-year-old girl with muscular atrophy of a distal upper extremity (Hirayama disease). The disease progressed insidiously, and during our first examination, she exhibited weakness and wasting in the right hand, accompanied by cold paresis. No sensory disturbance was evident. A nerve conduction test reve...
journal_title：Pediatric neurology
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abstract：BACKGROUND:Acute flaccid myelitis (AFM) is a rare disease of young children. The typical presentation involves acute-onset flaccid paralysis in one or more extremities with a nonspecific viral prodrome. Long-term outcomes demonstrate that functional recovery plateaus around six to nine months. The purpose of this study...
journal_title：Pediatric neurology
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更新日期：2020-10-01 00:00:00
abstract：OBJECTIVE:We describe the trends in antiepileptic drug (AED) use in children and adolescents with epilepsy in the United States. METHODS:We undertook a cross-sectional study based on Medicaid Analytic eXtract data set from 26 US states. Children and adolescents aged three to 18 years with at least one year continuous ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2017.05.016
更新日期：2017-09-01 00:00:00
abstract：:A 13-year, 6-month-old female was evaluated for subacute onset of left-sided hemichorea/hemiballismus, with an old, right parietal, cortical, and subcortical stroke as the presumed cause. Treatment with gabapentin was initiated, with good results at 6-month follow-up. Discussion of the differential diagnosis and evalu...
journal_title：Pediatric neurology
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更新日期：2000-01-01 00:00:00
abstract：:Neurophysiologic intraoperative monitoring, using somatosensory, brainstem auditory, and visual evoked potentials, transcranial electric motor stimulation, and electromyography, is typically used during complex surgeries involving the motor and sensory cortex, brainstem, cranial nerves, spinal cord, nerve root, periph...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2010.11.008
更新日期：2011-03-01 00:00:00
abstract：:Our knowledge of mitochondrial respiratory chain diseases has increased dramatically in recent years, but relatively little information is available about their prevalence and incidence, either in pediatric or adult patients. This study reports incidence and prevalence estimates, and summarizes the clinical, biochemic...
journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：2006-03-01 00:00:00
abstract：:To assess the incidence of postneonatal epilepsy in term infants treated with antiepileptic drugs for neonatal seizure discharges that were detected with amplitude-integrated electroencephalography (aEEG), 206 term infants were monitored using this modality. They received antiepileptic drugs for clinical as well as su...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2004.11.005
更新日期：2005-04-01 00:00:00
abstract：:A boy presented with hypertension, seizures, lethargy, headache, and occipital blindness. He improved with antihypertensive therapy. Other reported children with a similar distinctive clinical condition are compared with adults with a syndrome termed reversible posterior leukoencephalopathy. Because both gray and whit...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
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更新日期：1997-02-01 00:00:00
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：1988-09-01 00:00:00
abstract：:Leigh syndrome, caused by dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood. From 1983 to August 2006, 14 cases diagnosed with Leigh syndrome were studied in terms of characteristic neuroimaging findings and abnormal mito...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.09.020
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abstract：BACKGROUND:Cerebrospinal fluid opening pressure is elevated with central nervous system infection and vasculitis, but has not been studied in inflammatory demyelinating disease. This retrospective study sought to determine whether children with demyelinating disease demonstrate elevated cerebrospinal fluid opening pres...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2015.01.002
更新日期：2015-04-01 00:00:00
abstract：BACKGROUND:Insomnia and low iron stores are common in children with autism spectrum disorders, and low iron stores have been associated with sleep disturbance. METHODS:We performed a randomized placebo-controlled trial of oral ferrous sulfate to treat insomnia in children with autism spectrum disorders and low normal ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2019.07.015
更新日期：2020-03-01 00:00:00
abstract：:A boy diagnosed as having glycogenosis type II at three years of age, underwent a sural nerve biopsy at the age of seven years. The distribution of the diameters of myelinated nerve fibers did not clearly demonstrate a bimodal pattern. However, larger fibers of 8 microns or more in diameter were more abundant. This fi...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(86)90075-5
更新日期：1986-11-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(02)00386-7
更新日期：2002-08-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2017.01.034
更新日期：2017-04-01 00:00:00
abstract：OBJECTIVE:We present a child with Rasmussen encephalitis and highlight the pitfalls of diagnosis when magnetic resonance imaging (MRI) is negative for atrophy. We review the literature regarding this issue, introduce the FreeSurfer software as a potential means of noninvasive diagnosis, and discuss methods for prompt a...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2015.12.004
更新日期：2016-06-01 00:00:00
abstract：BACKGROUND:Outcome in severe acute necrotizing encephalopathy of childhood is poor, with high mortality (30%) and moderate to severe disability in survivors despite the use of intravenous corticosteroids or immunoglobulins. Increased blood interleukin 6 level correlates with poor outcome. METHODS:We report the early u...
journal_title：Pediatric neurology
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doi：10.1016/j.pediatrneurol.2019.04.009
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abstract：:Acquired chronic hepatocerebral degeneration is a central nervous system disorder secondary to several conditions related to hepatic dysfunction. Clinical features of acquired chronic hepatocerebral degeneration include a hyperkinetic extrapyramidal syndrome, neuropsychiatric symptoms, or both. We present for the firs...
journal_title：Pediatric neurology
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doi：10.1016/j.pediatrneurol.2007.09.010
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abstract：:This report describes the case of an 11-year-old girl with a prior history of epilepsy and multiple episodes of status epilepticus who presented with generalized convulsive status epilepticus and left hemiclonic seizures. Magnetic resonance imaging, including diffusion-weighted sequences and spectroscopy, and neuropat...
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abstract：BACKGROUND:Excessive gum-chewing is underreported as a headache precipitant in children and adolescents. We evaluated the influence of daily excessive gum-chewing in older children and teenagers with chronic headache, emphasizing the impact of habit discontinuation and its reintroduction. METHODS:Patients with chronic...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2013.08.015
更新日期：2014-01-01 00:00:00
abstract：:Colloid cysts of the third ventricle are benign intracranial tumors that usually become symptomatic in adults, rather than in children. Rare hemorrhages in these cysts can cause acute obstructive hydrocephalus and sudden death. We report a novel pediatric case of hemorrhagic colloid cyst in a 9-year-old girl who prese...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.02.004
更新日期：2008-06-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(90)90020-2
更新日期：1990-09-01 00:00:00
abstract：:The relationship between the dose of ACTH and the initial effect was investigated in 41 children with infantile spasms. More than 0.015 mg (0.6 IU)/kg/day of ACTH was needed for a good initial response of seizures and electroencephalographic abnormalities. The relationship between the dose of ACTH and long-term progno...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(90)90114-g
更新日期：1990-07-01 00:00:00
abstract：:Variant forms of the Guillain-Barré syndrome are characterized by their localized or regional involvement of the peripheral and autonomic nerves. As there is no single clinical or serologic marker for Guillain-Barré syndrome, diagnosis of this condition is based upon consistent clinical, laboratory, and neurophysiolog...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.04.012
更新日期：2005-10-01 00:00:00
abstract：:Carpal tunnel syndrome, although rare, is known to occur in children mainly because of genetic or metabolic disorders. The clinical findings are variable and include symptoms of burning pain, tingling, numbness, and weakness or atrophy in the hands of the patients. It is usually diagnosed by demonstration of prolonged...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(03)00280-7
更新日期：2003-10-01 00:00:00
abstract：BACKGROUND:It is well known that febrile seizures are commonly occur in children with exanthem subitum. In this study, we compared the clinical features and backgrounds of patients with complex febrile seizures with and without primary human herpesvirus 6B infection. METHODS:Sixty-two patients were enrolled after expe...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2020.03.015
更新日期：2020-08-01 00:00:00
abstract：:As part of the implementation of a population-based registry of children with cerebral palsy, caregiver satisfaction with the process by which diagnosis was originally communicated by a professional was assessed. Satisfaction with various aspects of the diagnosis process was assessed using a five-point Likert scale an...
journal_title：Pediatric neurology
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更新日期：2006-12-01 00:00:00
