Abstract：
:The involvement of the cerebellum in unfavorable outcomes of extreme prematurity is increasingly recognized. Evidence implicates both cerebellar injury and cerebellar growth failure, which, along with supratentorial lesions, aggravate motor and developmental outcomes. We describe clinical and neuroradiologic findings of 12 extremely premature patients with acquired pontocerebellar hypoplasia (mean follow-up, 4 years). Patients' neuromotor outcomes involved combined motor abnormalities (spasticity, dystonia, and ataxia), whereas 25% were ambulatory by age 4 years. All patients exhibited developmental delays of variable degrees. One patient died at age 7.5 years. The possible etiopathogenesis, presentations, sequelae, and differential diagnoses of acquired pontocerebellar hypoplasia are discussed.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Zafeiriou DI,Ververi A,Anastasiou A,Soubasi V,Vargiami Edoi
10.1016/j.pediatrneurol.2012.09.003subject
Has Abstractpub_date
2013-01-01 00:00:00pages
48-51issue
1eissn
0887-8994issn
1873-5150pii
S0887-8994(12)00413-4journal_volume
48pub_type
杂志文章abstract：:l-2 hydroxyglutaric aciduria is a rare, autosomal recessively inherited metabolic disorder of organic acid metabolism. A 5-year-old boy presented with eyelid myoclonia with absences that proved difficult to control with first-line anticonvulsants. An electroencephalogram produced profoundly abnormal results, with gene...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.01.008
更新日期：2012-03-01 00:00:00
abstract：:The clinical spectrum of the congenital muscular dystrophies is reviewed using as a sample population 10 Sicilian patients with various clinical subtypes. A comprehensive classification scheme for the muscular dystrophies is presented based on recent advances in our understanding of this heterogeneous group of syndrom...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/0887-8994(95)00148-9
更新日期：1995-09-01 00:00:00
abstract：BACKGROUND:Corpus callosum atrophy has been associated with cognitive and motor deficits in elderly people. However, the role of the corpus callosum in infant development is unclear. The aim of this study was to assess the impact of corpus callosum size on motor development in infants. METHODS:We investigated cerebral...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.10.012
更新日期：2015-02-01 00:00:00
abstract：:The present report concerns a vertically human immunodeficiency virus type 1 (HIV-1)-infected 7-year-old child, in whom a neurodegenerative disease occurred after an acute neurologic disorder that was in all likelihood symptomatic of HIV-1 encephalitis. At the steady state the neurologic disease fulfilled the accepted...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(98)00147-7
更新日期：1999-04-01 00:00:00
abstract：:Two siblings, a 27-year-old man and his 24-year-old sister were diagnosed with classic transferase deficiency galactosemia at birth and were treated with strict lactose restriction. Despite well-documented dietary management, both siblings are mentally retarded and manifest a progressive neurologic condition character...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(92)90072-7
更新日期：1992-05-01 00:00:00
abstract：BACKGROUND:Autopsy studies in Rasmussen encephalitis reveal areas of sparing within the affected hemisphere. Clinical progression and inflammation are milder with an older onset. We sought to demonstrate radiological corroboration for these patterns. METHODS:In our retrospective study, 38 cases were dichotomized into ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2020.07.016
更新日期：2020-11-01 00:00:00
abstract：BACKGROUND:Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. MATERIALS AND METHODS:We performed diagnostic ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2017.01.033
更新日期：2017-05-01 00:00:00
abstract：:Acute transverse myelitis is a rare Borellia burgdorferi-related neurologic complication in childhood. We present a 12-year-old girl who was diagnosed with acute transverse myelitis associated with a borreliosis infection. We also review clinical features in all five cases of Borellia burgdorferi-related transverse my...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2012.12.001
更新日期：2013-04-01 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：:Four patients who manifested symptoms of the antiepileptic drug (AED) hypersensitivity syndrome during therapy with carbamazepine are reported. In 3 patients, the syndrome was exacerbated after conversion of therapy to another antiepileptic drug with an aromatic ring chemical structure. In vitro lymphocyte transformat...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90054-x
更新日期：1994-03-01 00:00:00
abstract：:Benign paroxysmal torticollis in infancy is characterized by periods of torticollic posturing of the head. The onset of the episodes usually occurs during the first month of life and may recur at varying intervals until the age of 1-5 years. This appears to be a self-limited disorder. The follow-up of 7 patients with ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(93)90031-7
更新日期：1993-11-01 00:00:00
abstract：BACKGROUND:The juvenile form of GM1 gangliosidosis lacks specific physical findings and thus is often a diagnostic challenge for clinicians. T2 hypodensity in the globus pallidus is a characteristic radiographic sign of neurodegeneration with iron accumulation in the brain that is observed in GM1 gangliosidosis, but th...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.09.022
更新日期：2015-02-01 00:00:00
abstract：:Traumatic spinal epidural hematoma (TSEH) is rare in children. Only three cases of TSEH were documented in the pediatric literature. This clinical note presents an infant with TSEH but no risk factors. Without magnetic resonance imaging examination, children with TSEH and minor symptoms may be missed and under reporte...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(00)00151-x
更新日期：2000-07-01 00:00:00
abstract：:A 4-year-old female with choroid plexus carcinoma developed progressive disturbance of consciousness 2 years after postoperative treatment with radiotherapy, chemotherapy, and focal methotrexate injection into a residual tumor cyst. Magnetic resonance imaging revealed white matter lesions localized around the expandin...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2004.06.018
更新日期：2005-01-01 00:00:00
abstract：BACKGROUND:Classic L-dopa-responsive dystonia is characterized by the triad of dystonia, diurnal fluctuation of signs, and dramatic response of signs to low-dose L-dopa therapy. Dopa-responsive dystonia succinctly summarizes the relevant clinical features. However, literal application of this label or consideration of ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2015.12.016
更新日期：2016-06-01 00:00:00
abstract：:Two siblings presented with identical features of progressive peripheral paralysis of the lower motor neuron type, pyramidal signs, cranial nerve palsy which included external ocular palsy and deafness, and internal ocular palsy; both died before 1 year of age. Pathologic examination of the central nervous system in b...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90130-9
更新日期：1994-06-01 00:00:00
abstract：:Two brothers with congenital myotonic dystrophy also had cystinuria with large renal stones. This report is the first to document the concurrence of cystinuria and congenital myotonic dystrophy. It is uncertain whether these two conditions are coincidental or share a common pathogenesis. ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(87)90025-7
更新日期：1987-07-01 00:00:00
abstract：BACKGROUND:The aim of this study was to assess the sensibility of the hand in children with a neonatal brachial plexus palsy (NBPP) involving the C5 and C6, and to correlate results with dexterity. METHODS:Fifty children with NBPP (30 after nerve surgery, mean age 9.8 years) and 25 healthy controls (mean age 9.6 years...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2018.04.006
更新日期：2018-09-01 00:00:00
abstract：:Mitochondrial encephalopathies may be caused by mutations in the respiratory chain complex I subunit genes. Described here are the cases of two pediatric patients who presented with MELAS-like calcarine lesions in addition to novel, bilateral rolandic lesions and epilepsia partialis continua, secondary to MT-ND3 mutat...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.02.010
更新日期：2009-07-01 00:00:00
abstract：:Although it is widely believed that herbal products are beneficial to the health, some herbal products can result in serious adverse effects, such as epileptic seizures, especially in children who are particularly susceptible. Sage oil contains well-known convulsant substances such as thujone, camphor, and cineole in ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2011.05.012
更新日期：2011-10-01 00:00:00
abstract：:Ischemic and hemorrhagic stroke can occur in the setting of pediatric trauma, particularly those with head or neck injuries. The risk of stroke appears highest within the first two weeks after trauma. Stroke diagnosis may be challenging due to lack of awareness or concurrent injuries limiting detailed neurological ass...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2019.12.009
更新日期：2020-07-01 00:00:00
abstract：:The aim of this study was to evaluate the added utility of gadolinium administration in the magnetic resonance imaging evaluation of developmental delay in children less than 2 years of age. A computerized retrospective study identified all brain magnetic resonance imaging examinations using gadolinium performed at ou...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.02.014
更新日期：2006-08-01 00:00:00
abstract：BACKGROUND:Sturge-Weber syndrome is a neurocutaneous disorder associated with epilepsy, glaucoma, cognitive impairments, and a port-wine birthmark. Although individuals with Sturge-Weber syndrome are vulnerable to known risk factors for suicide, including chronic illness and physical differences (port-wine birthmark), ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2020.03.013
更新日期：2020-09-01 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：:Tumefactive demyelinating lesions may be misdiagnosed as brain neoplasms or abscesses. In this paper, we present four cases of pediatric tumefactive demyelination. Twelve cases of pediatric tumefactive demyelination previously reported in the English literature are also summarized. We describe the neuroimaging charact...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(01)00322-8
更新日期：2002-01-01 00:00:00
abstract：:In areas without expanded newborn screening, instead of presenting neonatally, patients with arginase deficiency typically present with spastic paraplegia in early childhood. Diagnosis of this rare neurometabolic disease poses the first challenge because it is often misdiagnosed as cerebral palsy during initial stages...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.06.012
更新日期：2012-10-01 00:00:00
abstract：:Syncope affects all age groups and is characterized by a brief sudden loss of consciousness followed by fast recovery. Vasovagal syncope, the most common type, is generally assumed to be due to venous pooling and an abnormal sympathetic response. In approximately 20% of cases, more than one family member is affected. ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.09.003
更新日期：2009-01-01 00:00:00
abstract：:The complications of 50 Chinese children with neurofibromatosis-1 were found to be different from other ethnic groups. There was a predominance of scoliosis, speech problems, and blood malignancies, but brain tumors were rare. The majority had good prognosis. Clinical manifestations depend on the age of ascertainment ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90006-x
更新日期：1994-11-01 00:00:00
abstract：:Tic disorders constitute a neurodevelopmental disorder of childhood. This study sought to determine the prevalence of tic disorders in a school-based sample. A randomized sample of 1158 schoolchildren, based on clusters (classrooms) in the province of Burgos (Spain), was identified on a stratified sampling frame combi...
journal_title：Pediatric neurology
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.pediatrneurol.2011.03.003
更新日期：2011-08-01 00:00:00
abstract：BACKGROUND:Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia. METHODS:We d...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.12.003
更新日期：2017-06-01 00:00:00
