Abstract:
OBJECTIVE:Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. METHODS:Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with DWS, and recorded coexistent conditions (by ICD10 category) were extracted for 187 patients (46.5% male, 43% from Asia) from 168 case reports. RESULTS:Diagnosis was most often set in <1 year old (40.6%) or >12 years old (27.8%). One-third of cases had a chromosomal abnormality or syndrome (n = 8 PHACE), 27% had a cardiovascular condition (n = 7 Patent Ductus Arteriosus), 24% had a disease of eye and ear (n = 9 cataract); most common malignancy was nephroblastoma (n = 8, all Asian). Almost one-fifth had a mental illness diagnosis; only 6.4% had mild or severe intellectual disability. CONCLUSION:The spread of comorbidities calls for early diagnosis and multidisciplinary research and practice, especially as many cases remain clinically asymptomatic for years.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Stambolliu E,Ioakeim-Ioannidou M,Kontokostas K,Dakoutrou M,Kousoulis AAdoi
10.1177/0883073817712589subject
Has Abstractpub_date
2017-09-01 00:00:00pages
886-902issue
10eissn
0883-0738issn
1708-8283journal_volume
32pub_type
杂志文章,评审abstract::Acute focal neurologic deficits are a rare but known presentation of ornithine transcarbamylase deficiency, particularly in females. We describe here a 6-year-old girl with newly diagnosed ornithine transcarbamylase deficiency who presents with an episode of acute cortical blindness lasting for 72 hours in the absence...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814535490
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abstract::Spongy degeneration of the central nervous system in infancy (Van Bogaert-Bertrand disease) is a disorder usually thought to occur in Ashkenazi Jewish infants. We report a case occurring in an Arab infant of consanguineous parents. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388600100111
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abstract::The objective of this study was to determine the impact of migraine headaches on health-related quality of life among Canadian adolescents. The Canadian Community Health Survey (CCHS) collects information related to health status, health care utilization, and health determinants for the Canadian population. Analysis w...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807307987
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abstract::Autism is characterized by social deficits, communication and language impairments, narrow restricted interests, repetitive behaviors, inattention, and hyperactivity. While selective serotonin reuptake inhibitors have demonstrated efficacy in treating core symptoms of autism, norepinephrine reuptake inhibitors have de...
journal_title:Journal of child neurology
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doi:10.1177/088307380001500214
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abstract::Vibratory feedback can be a useful tool for rehabilitation. We examined its use in children with dystonia to understand how it affects muscle activity in a population that does not respond well to standard rehabilitation. We predicted scaled vibration (ie, vibration that was directly or inversely proportional to muscl...
journal_title:Journal of child neurology
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abstract::Outcome measures should include the patient's values and preferences (from the patient's perspective) in addition to performance ratings and physiologic states. Outcome measures can assess relationships between services and interventions and their end results, can clarify which therapies are worth providing and which ...
journal_title:Journal of child neurology
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abstract::The influence of severity of closed head injury and age on attentional functioning was prospectively investigated in 36 children (age range, 7 to 16 years) 6 months after injury. Children were placed into mild, moderate, and severe injury groups using established neurologic criteria. Each child received the Wechsler I...
journal_title:Journal of child neurology
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abstract::Respiratory syncytial virus is a common cause of acute respiratory infection in children. Previous reports have associated respiratory syncytial virus infection and acute neurologic symptoms, including apnea and seizures. This study examined the prevalence of acute neurologic symptoms associated with respiratory syncy...
journal_title:Journal of child neurology
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更新日期:2004-11-01 00:00:00
abstract::Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, ...
journal_title:Journal of child neurology
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更新日期:2018-12-01 00:00:00
abstract::Two children are described who suddenly developed an encephalitic illness with intractable bilateral facial seizures. The seizures subsided over several days, but the children were left with the signs of pseudobulbar palsy and are unable to speak or swallow effectively. Bilateral destructive lesions in the opercular r...
journal_title:Journal of child neurology
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更新日期:1989-04-01 00:00:00
abstract::A 12-year-old boy presented with complaints of seizures since the age of 7 years. Seizure semiology was consistent with origin from the right temporal lobe. Magnetic resonance imaging of the brain revealed a large right temporal and multiple small intracranial cavernomatous hemangiomas. The imaging findings and clinic...
journal_title:Journal of child neurology
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更新日期:2010-11-01 00:00:00
abstract::Acute disseminated encephalomyelitis is a monophasic inflammatory demyelinating disease of the central nervous system involving the white matter, and to a lesser extent, the gray matter. Bilateral thalamic lesions have been reported in 12% of pediatric patients with acute disseminated encephalomyelitis. In most cases,...
journal_title:Journal of child neurology
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更新日期:2009-08-01 00:00:00
abstract::Five patients with palatal tics and Gilles de la Tourette syndrome have been previously reported. Little is known about the characteristics of palatal tics given that there are so few reports. On one hand, palatal tics may be rare. Alternatively, they may be less well recognized than repetitive eye blinking or sniffin...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814546687
更新日期:2015-08-01 00:00:00
abstract::Six girls between 2 years 9 months and 15 years of age with Rett syndrome were thoroughly investigated. Blood ammonia levels varied between 42 and 123 mumol/L, and serum lactate concentration was slightly elevated in two girls. Electroencephalograms showed a dysrhythmic pattern during wakefulness; during drowsiness an...
journal_title:Journal of child neurology
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更新日期:1990-07-01 00:00:00
abstract::Fifty cases of postinfectious encephalomyelitis admitted to our Pediatric Department during the period 1980 to 1997 were consecutively collected and reviewed. There were 28 males and 22 females. The age of onset ranged from 9 months to 14 years. The antecedent infections included measles (6 cases), rubella (5 cases), ...
journal_title:Journal of child neurology
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更新日期:2000-10-01 00:00:00
abstract::The objective of this study was to determine the role of cerebral nitric oxide and its powerful oxidant peroxynitrite following mild birth asphyxia. The cerebrospinal fluid levels of nitric oxide and 3-nitrotyrosine as a marker for peroxynitrite are measured in neonates with mild hypoxic-ischemic encephalopathy. Based...
journal_title:Journal of child neurology
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更新日期:2002-11-01 00:00:00
abstract::Pyridoxine-dependent seizures are a rare condition recognized when numerous seizures respond to pyridoxine treatment and recur on pyridoxine withdrawal. For decades the diagnosis was confirmed only with pyridoxine treatment withdrawal trial. Recently described biochemical and molecular pathology improved the diagnosti...
journal_title:Journal of child neurology
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更新日期:2008-12-01 00:00:00
abstract::Rett syndrome is a neurodevelopmental disorder predominately affecting females. The majority of patients have epilepsy in the early stages of the disease. This study evaluates the clinical course of epilepsy and the effect of antiepileptic drug treatment in Rett syndrome using retrospective data analysis. Epilepsy was...
journal_title:Journal of child neurology
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更新日期:2011-11-01 00:00:00
abstract:BACKGROUND:Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals. OBJECTIVES:To report on the quality...
journal_title:Journal of child neurology
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更新日期:2020-04-01 00:00:00
abstract::We analyzed clinical and instrumental data of 403 consecutive newborns with gestational age from 24 to 32 weeks, admitted to the University-Hospital of Parma between January 2000 and December 2007, to evaluate the possible relationship between neonatal mortality and occurrence of neonatal seizures in very preterm newb...
journal_title:Journal of child neurology
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abstract::To document the impact of Tourette syndrome on the health care needs of children and access to health care among youth with Tourette syndrome, parent-reported data from the 2007-2008 National Survey of Children's Health were analyzed. Children with Tourette syndrome had more co-occurring mental disorders than children...
journal_title:Journal of child neurology
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abstract::The objective of this study was to compare the efficacy of corticotropin (ACTH) versus vigabatrin in treating infantile spasms and to determine which medication has a more favorable long-term outcome in terms of cognitive function, evolution of epilepsy, and incidence of autism. Patients with infantile spasms were inc...
journal_title:Journal of child neurology
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abstract::To report the authors' experience with diagnosis and management of Dravet syndrome, or severe myoclonic epilepsy in infancy, in the era of commercially available genetic testing, the authors performed a retrospective study of 16 patients diagnosed with Dravet syndrome at a tertiary care pediatric epilepsy center. They...
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journal_title:Journal of child neurology
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更新日期:2011-08-01 00:00:00
abstract::Autosomal inherited mitochondrial diseases have been of increasing interest among clinicians and mitochondrial research groups because these diseases are caused through a secondary effect on the mitochondrial DNA. It was thought that the genetic stability of mitochondrial DNA relies on the accuracy of DNA polymerase g...
journal_title:Journal of child neurology
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abstract::Postictal psychoses are brief psychotic episodes that usually occur after poorly controlled partial complex seizure clusters. The psychosis commonly appears following a lucid interval, ranging from a few hours to days after seizure termination. An underlying structural brain abnormality is common and usually involves ...
journal_title:Journal of child neurology
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abstract::Baclofen is widely used to control spasticity in children with cerebral palsy. Several publications described clinical adverse effects of baclofen oral treatment, but the effect of baclofen on seizure potentiation is still controversial. We describe a 10-year-old female patient with cerebral palsy, epilepsy, and menta...
journal_title:Journal of child neurology
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abstract::Mitochondrial medicine provides a metabolic perspective on the pathology of conditions linked with inadequate oxidative phosphorylation. Dysfunction in the mitochondrial machinery can result in improper energy production, leading to cellular injury or even apoptosis. Clinical presentations are often subtle, so clinici...
journal_title:Journal of child neurology
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更新日期:2014-09-01 00:00:00
abstract::The intrauterine onset of convulsive syndromes has been documented only rarely, and previous reports have lacked detailed neuropathologic description. This report details a case of severe, intractable myoclonic encephalopathy, which, on the basis of severely abnormal paroxysmal fetal movement patterns confirmed by ant...
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