Abstract：
:A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 years, her motor coordination had declined and she began to exhibit evidence of dementia, dystonia, dysarthria, and tremor. Motor incoordination, dystonia, and tremor progressed until the patient was wheel-chair-bound. Multiple tests were performed, including metabolic studies, magnetic resonance imaging, bone marrow biopsy, and electron microscopy of the buffy coat. Both bone marrow and buffy coat revealed inclusions in the cytosomes which were granular and osmiophilic. To our knowledge, this is the third case report of inclusion bodies found in patients with manifestations of Hallervorden-Spatz syndrome. These findings suggest that obtaining a buffy coat and bone marrow biopsy may aid in the diagnosis of Hallervorden-Spatz syndrome and ultimately provide information regarding etiology.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Zupanc ML,Chun RW,Gilbert-Barness EFdoi
10.1016/0887-8994(90)90030-5subject
Has Abstractpub_date
1990-09-01 00:00:00pages
349-52issue
5eissn
0887-8994issn
1873-5150pii
0887-8994(90)90030-5journal_volume
6pub_type
杂志文章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：:The costs of epilepsy encompass all aspects of life, including medical, educational, and psychosocial. Adults with intractable epilepsy who undergo epilepsy surgery and have seizure-free outcomes still have significant barriers in the attainment of improved quality of life. For this reason, there is increasing interes...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(97)00170-7
更新日期：1997-09-01 00:00:00
abstract：:The effects of vagal nerve stimulation on sleep-related breathing have not been well-described in children. Vagal nerve stimulation was reported to cause decreases in airflow during sleep, although most studies reported this condition to be clinically insignificant. We present a retrospective case series of nine child...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.09.014
更新日期：2008-02-01 00:00:00
abstract：:The expression of tumor necrosis factor alpha (TNF alpha) was examined in infants with leukomalacia by means of immunohistochemical methods with an antihuman TNF alpha monoclonal antibody. We studied 23 patients with neonatal leukomalacia, classified as having "focal," "widespread," or "diffuse" disease according to t...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00223-5
更新日期：1996-01-01 00:00:00
abstract：:Rapid eye movement sleep distribution changes during development, but little is known about rapid eye movement latency variation in childhood by age, sex, or pathologic sleep states. We hypothesized that: (1) rapid eye movement latency would differ in normal children by age, with a younger cohort (1-10 years) demonstr...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.06.011
更新日期：2008-09-01 00:00:00
abstract：:In clinical practice, an association is commonly suggested between nocturnal epileptiform activity and language disorders in children. However, this association has not been studied systematically. This study explored the correlation between daily and nocturnal epileptiform discharges ratio, frequency of nocturnal epi...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.10.014
更新日期：2011-05-01 00:00:00
abstract：:Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cau...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.10.014
更新日期：2013-02-01 00:00:00
abstract：:Two patients with neonatal onset of arm weakness resulting from neoplastic involvement of the brachial plexus who were initially considered to have obstetric brachial plexus palsies are reported. The first patient was a 7-day-old female who presented with a left supraclavicular mass that was first detected at 2 days o...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(99)00144-7
更新日期：2000-04-01 00:00:00
abstract：:Auditory event-related potentials (P300 latency; odd-ball paradigm) were examined in 129 patients with childhood epilepsies and 53 controls. The P300 latency in the patients with epilepsies (373 +/- 39.4 ms) was significantly longer than in controls (356 +/- 38.4), and the prolongation was greatest in the patients wit...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00001-v
更新日期：1995-02-01 00:00:00
abstract：OBJECTIVE:We evaluated the frequency of six commonly reported adult migraine premonitory symptoms in children and adolescents with episodic and chronic migraine and elicited psychological or behavioral comorbidities that may be associated with these symptoms. BACKGROUND:Premonitory symptoms are commonly reported in th...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2019.03.023
更新日期：2019-08-01 00:00:00
abstract：:Polyneuritis cranialis is a rare disorder of multiple cranial nerve palsies without spinal cord involvement. The case reported is of a 10-year-old boy with multiple palsies involving cranial nerves III, IV, V, VI, VII, IX, X, XI, and XII cranial nerves, unilaterally or bilaterally. After initial, unsuccessful treatmen...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.05.002
更新日期：2007-09-01 00:00:00
abstract：:Two visually impaired children with occipital infarctions are presented. One patient has profound impairment of his primary visual pathway but has good vision for traveling, while the other child presented with the symptoms in reverse. We believe that these two patients provide further evidence that the primary visual...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(86)90079-2
更新日期：1986-11-01 00:00:00
abstract：:The peripartum period entails the next prenatal interval when novel neuroprotective strategies will be designed and tested. Research development will lead to novel evaluations for maternal-fetal pairs who require inpatient treatment and possible delivery for worsening or acute neurologic problems. Future studies shoul...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2012.06.018
更新日期：2012-12-01 00:00:00
abstract：:We describe a fetal intracerebral hemorrhage associated with familial thrombophilia. Intraventricular and intraparenchymal hemorrhage of the left cerebral hemisphere was diagnosed at 22 weeks of gestation. Neuropathologic examination demonstrated a large germinal zone hemorrhage and ischemic changes secondary to bleed...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.04.027
更新日期：2009-10-01 00:00:00
abstract：:In children, multiple sclerosis is rare and has some clinical and paraclinical differences compared with adults. The assessment of corticospinal motor tracts is expected to be relevant because of their frequent early involvement in this disease. Reported are the results of transcranial magnetic stimulation in two chil...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(99)00111-3
更新日期：2000-02-01 00:00:00
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
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2020.06.016
更新日期：2020-10-01 00:00:00
abstract：:A debilitating, regularly recurring, biphasic disorder is described in 6 severely multidisabled children. It was characterized by several days of lethargy, withdrawal, loss of abilities, irritability, and hypersomnolence followed or preceded by a high-energy state for several days during which the children slept very ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90064-7
更新日期：1994-02-01 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
更新日期：2009-02-01 00:00:00
abstract：:Patients with autosomal dominant Segawa disease (dopa-responsive dystonia) demonstrate excellent, sustained response to low-dose levodopa. In contrast, the development of levodopa limiting treatment dyskinesias is thought to support the diagnosis of other early-onset dystonia/parkinsonism syndromes. We describe an aty...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.03.003
更新日期：2012-06-01 00:00:00
abstract：:Periodic limb movements of sleep are clinically underdiagnosed in children. Polysomnography is the most accurate diagnostic test. There is a paucity of information regarding polysomnography findings in children. We evaluated the prevalence and correlates of pediatric periodic limb movements detected by polysomnography...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.03.008
更新日期：2008-07-01 00:00:00
abstract：BACKGROUND:Ring chromosome 20 is a genetic disorder characterized by intractable epilepsy, behavioral problems, and cognitive deficit. The potassium channel-coding gene KCNQ2 is localized at the locus q13.3 on the chromosome 20, the most common site where the ring occurs. Ezogabine is the first potassium channel opener...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2013.06.005
更新日期：2013-11-01 00:00:00
abstract：BACKGROUND:Acute cerebellitis is a rare inflammatory syndrome in children, with either infectious or autoimmune etiologies. PATIENT:We describe a 7-year-old girl with a presentation of cerebellitis following group A streptococcal infection. RESULTS:Magnetic resonance imaging showed diffuse symmetrical swelling and ed...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2013.06.003
更新日期：2013-12-01 00:00:00
abstract：:Moyamoya disease is an uncommon chronic cerebrovasculopathy, characterized by progressive stenosis of the terminal portion of the internal carotid artery and its main branches, in association with the development of compensatory collateral vessels at the base of the brain. The etiology is unknown, and was originally c...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2011.02.007
更新日期：2011-06-01 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：:The objective of this study was to examine the factors associated with the occurrence of behavioral and cognitive abnormalities in children treated with topiramate. A retrospective chart review of patients up to 18 years of age who had been treated with topiramate at a tertiary epilepsy center was performed. Behaviora...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(99)00151-4
更新日期：2000-03-01 00:00:00
abstract：:Potassium channel subunits encoded by several genes of the KCNQ family underlie the M-current. Specifically, KCNQ2 and KCNQ3 play a major role at most neuronal sites. Mutations in KCNQ2 or KCNQ3 that reduce the M-current are responsible for benign familial neonatal seizures, a rare autosomal dominant idiopathic epilep...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.05.009
更新日期：2009-11-01 00:00:00
abstract：PURPOSE:Corpus callosotomy and vagus nerve stimulation are common palliative options for people with drug-resistant epilepsy when resective epilepsy surgery is not feasible. Because most of the published corpus callosotomy experience comes from a period before vagus nerve stimulation was approved and widely used, there...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.09.008
更新日期：2014-12-01 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：:The neuropsychologic function and white matter changes observed on magnetic resonance imaging (MRI) in Cockayne syndrome were studied. MRI with T2-weighted sequences revealed periventricular hyperintensity and white matter hyperintensity in all 3 Cockayne syndrome patients examined; in contrast, 8 age-matched controls...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(92)90369-a
更新日期：1992-07-01 00:00:00
abstract：:The goal of the study was to assess the long-term seizure and neuropsychologic outcomes of patients with tuberous sclerosis and refractory epilepsy who received vagus nerve stimulator implantation. Eleven patients with a follow-up period of at least 12 months were studied retrospectively. The mean age at the time of i...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.03.003
更新日期：2010-07-01 00:00:00
