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https://www.readbyqxmd.com/read/29336640/novel-rnaset2-pathogenic-variants-in-an-east-asian-child-with-delayed-psychomotor-development
#1
Yan Sun, Xuyun Hu, Jiqing Song, Yanyan Hu, Caihong Liu, Guimei Li
INTRODUCTION: RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, including leukoencephalopathy, white matter alterations, intracranial calcification, delayed psychomotor development, intelligence disability and seizures. Only eight families with RNASET2 mutation have been previously reported. METHODS: Whole exome sequencing was performed and copy number variants were described by read-depth strategy...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29335082/-a-comparative-analysis-of-anti-n-methyl-d-aspartate-receptor-encephalitis-with-or-without-abnormal-findings-on-cranial-magnetic-resonance-imaging
#2
Jian-Zhao Zhang, Qian Chen, Ping Zheng, Li-Na Xie, Xiao-Li Yi, Hai-Tao Ren, Jian Yang
OBJECTIVE: To investigate the clinical features of children with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis with normal or abnormal cranial magnetic resonance imaging (MRI) findings via a comparative analysis. METHODS: A retrospective analysis was performed for the clinical data of 33 children with anti-NMDAR encephalitis. The clinical features and prognosis were compared between the children with normal and abnormal cranial MRI findings. RESULTS: In the 33 children with anti-NMDAR encephalitis, the most common initial symptoms were seizures (61%) and involuntary movement (61%), followed by language disorder (54%), mental and behavioral abnormalities (52%), and disturbance of consciousness (30%)...
January 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29331007/anaesthetic-management-of-nesidioblastosis-in-two-infants
#3
Muhammad Saad Yousuf, Mohsin Nazir Butt, Fauzia Anis Khan
Nesidioblastosis is the most common cause of non-transient, recurrent and persistent hypoglycaemia in neonates and infants. It is a disorder of diffuse proliferation of beta cells of the pancreas leading to hyperinsulinemia and hypoglycaemia. The main aim is to prevent the severe episodes of hypoglycaemia which can cause damage to the brain and/or mental retardation. In this case report we present two cases of nesidioblastosis and their perioperative anaesthetic course for near-total pancreatectomy. First case was a 7 months old female who had repeated episodes of convulsions since birth...
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29328005/a-novel-use-of-the-neuroblate-sidefire-probe-for-minimally-invasive-disconnection-of-a-hypothalamic-hamartoma-in-a-child-with-gelastic-seizures
#4
James M Wright, Michael D Staudt, Andrea Alonso, Jonathan P Miller, Andrew E Sloan
The authors describe the case of a 22-month-old boy who presented with gelastic seizures and developmental delay. Magnetic resonance imaging and video-electroencephalography monitoring revealed a primarily intraventricular hypothalamic hamartoma and gelastic seizures occurring 20-30 times daily. The patient was treated with various regimens of antiepileptic medications for 16 months, but the seizures remained medically intractable. At 3 years of age, he underwent stereotactic laser ablation with an aim of disconnection of the lesion...
January 12, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29305781/health-related-quality-of-life-in-mothers-of-children-with-epilepsy-10%C3%A2-years-after-diagnosis
#5
Klajdi Puka, Mark A Ferro, Kelly K Anderson, Kathy N Speechley
PURPOSE: Epilepsy in childhood extends far beyond seizures and affects child and parental well-being. The long-term impact of childhood-onset epilepsy on parental well-being is unknown. This study assessed health-related quality of life (HRQOL) in mothers 10 years after their child's diagnosis of epilepsy. METHODS: Data come from the Health-Related Quality of Life in Children with Epilepsy Study, a multicenter prospective cohort study of children with newly diagnosed epilepsy...
January 5, 2018: Quality of Life Research
https://www.readbyqxmd.com/read/29304841/paediatric-medical-emergency-calls-to-a-danish-emergency-medical-dispatch-centre-a-retrospective-observational-study
#6
Kasper Andersen, Søren Mikkelsen, Gitte Jørgensen, Stine Thorhauge Zwisler
BACKGROUND: Little is known regarding paediatric medical emergency calls to Danish Emergency Medical Dispatch Centres (EMDC). This study aimed to investigate these calls, specifically the medical issues leading to them and the pre-hospital units dispatched to the paediatric emergencies. METHODS: We performed a retrospective, observational study on paediatric medical emergency calls managed by the EMDC in the Region of Southern Denmark in February 2016. We reviewed audio recordings of emergency calls and ambulance records to identify calls concerning patients ≤ 15 years...
January 5, 2018: Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine
https://www.readbyqxmd.com/read/29300374/clinical-history-and-management-recommendations-of-the-smooth-muscle-dysfunction-syndrome-due-to-acta2-arginine-179-alterations
#7
Ellen S Regalado, Lauren Mellor-Crummey, Julie De Backer, Alan C Braverman, Lesley Ades, Susan Benedict, Timothy J Bradley, M Elizabeth Brickner, Kathryn C Chatfield, Anne Child, Cori Feist, Kathryn W Holmes, Glen Iannucci, Birgit Lorenz, Paul Mark, Takayuki Morisaki, Hiroko Morisaki, Shaine A Morris, Anna L Mitchell, John R Ostergaard, Julie Richer, Denver Sallee, Sherene Shalhub, Mustafa Tekin, Anthony Estrera, Patricia Musolino, Anji Yetman, Reed Pyeritz, Dianna M Milewicz
PurposeSmooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management.MethodsMedical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed.ResultsAll patients had congenital mydriasis and related pupillary abnormalities at birth and presented in infancy with a patent ductus arteriosus or aortopulmonary window...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29299097/paravertebral-calcification-as-a-potential-indicator-for-nonaccidental-trauma
#8
Katsuaki Kojima, Jennifer Nimtz, Steven W Martin, Stephen R Guertin, Ellen C Cavenagh
We report a case of nonaccidental trauma (NAT) involving a 23-month-old boy who presented with seizures, acute subarachnoid hemorrhage, and acute subdural hemorrhage. Ophthalmologic examination showed bilateral intraretinal hemorrhages. Further evaluation revealed that he had bilateral thoracolumbar paravertebral calcifications. The Children's Protective Services agency was involved in the case. The child was discharged to an inpatient rehabilitation facility. Vertebral fracture associated with paravertebral calcification has been reported as a sign of NAT...
July 2017: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/29295578/devices-for-ambulatory-monitoring-of-sleep-associated-disorders-in-children-with-neurological-diseases
#9
Adriana Ulate-Campos, Melissa Tsuboyama, Tobias Loddenkemper
Good sleep quality is essential for a child's wellbeing. Early sleep problems have been linked to the later development of emotional and behavioral disorders and can negatively impact the quality of life of the child and his or her family. Sleep-associated conditions are frequent in the pediatric population, and even more so in children with neurological problems. Monitoring devices can help to better characterize sleep efficiency and sleep quality. They can also be helpful to better characterize paroxysmal nocturnal events and differentiate between nocturnal seizures, parasomnias, and obstructive sleep apnea, each of which has a different management...
December 25, 2017: Children
https://www.readbyqxmd.com/read/29289522/effect-of-rescue-medication-on-seizure-duration-in-non-institutionalized-children-with-epilepsy
#10
Federico Vigevano, Fenella J Kirkham, Bernd Wilken, Miquel Raspall-Chaure, Regina Grebla, Dawn Lee, Tamara Werner-Kiechle, Lieven Lagae
OBJECTIVES: Characterize the real-world management of and outcomes for children with epilepsy receiving rescue medication for prolonged acute convulsive seizures (PACS) in the community. METHODS: PERFECT-3 (Practices in Emergency and Rescue medication For Epilepsy managed with Community-administered Therapy 3) was a European, retrospective observational study. Eligible patients were non-institutionalized children with epilepsy aged 3-16 years who had experienced ≥1 PACS in the past year and had ≥1 currently prescribed PACS rescue medication...
August 2, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29279830/homocystinuria-with-stroke-and-positive-familial-history
#11
Ali Mazaheri, Neda Mostofizadeh, Mahin Hashemipour
Homocystinuria is the second most common treatable aminoacidopathy. Clinically, affected patients present with eye, skeleton, central nervous system, and most importantly, vascular system abnormalities. This autosomal recessive disorder leads to accumulation of homocysteine and its metabolites in the blood and urine. In this report, we present a case with clinical and biochemical findings of homocystinuria with stroke and a positive familial history of the disease in her brother. A 4-year-old girl was admitted to pediatric emergency ward because of acute onset of right hemiparesis and subsequent generalized tonic-clonic seizures...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/29258560/a-clinical-series-using-intensive-neurorehabilitation-to-promote-functional-motor-and-cognitive-skills-in-three-girls-with-cask-mutation
#12
Stephanie C DeLuca, Dory A Wallace, Mary Rebekah Trucks, Konark Mukherjee
OBJECTIVES: Children with microcephaly face lifelong psychomotor, cognitive, and communications skills disabilities. Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays, and poor communication skills. Molecular diagnostics have outpaced available interventions and most children receive generic physical, speech, and occupational therapies with little attention to the efficacy of such treatments...
December 19, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29245288/elevated-serum-lipoprotein-a-as-a-risk-factor-for-combined-intracranial-and-extracranial-artery-stenosis-in-a-child-with-arterial-ischemic-stroke-a-case-report
#13
Ji Yoon Han, Hyun Jeong Kim, Soyoung Shin, Joonhong Park, In Goo Lee
RATIONALE: Stroke is an uncommon disease in childhood with an estimated incidence of 1 to 6 per 100,000 and stenoocclusive arteriopathy is the main risk factor of recurrent pediatric arterial ischemic stroke (AIS). Dyslipidemia may influence strongly before puberty and in late adolescence when plasma levels are naturally highest. PATIENT CONCERNS: An 11-year-old male presented with acute onset seizure, a drowsy mentality, and right hemiplegia. DIAGNOSES: Magnetic resonance (MR) angiogram demonstrated occlusion of distal basilar artery and left vertebral arteries...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29221514/yield-of-brain-mri-in-clinically-diagnosed-epilepsy-in-the-kingdom-of-bhutan-a-prospective-study
#14
Veronica Bruno, Joshua P Klein, Dechen Nidup, Damber K Nirola, Lhab Tshering, Sonam Deki, Sarah J Clark, Kristin A Linn, Russell T Shinohara, Chencho Dorji, Dili Ram Pokhrel, Ugyen Dema, Farrah J Mateen
BACKGROUND: People with epilepsy (PWE) in low- and middle-income countries may not access the health resources that are considered optimal for epilepsy diagnosis. The diagnostic yield of magnetic resonance imaging (MRI) has not been well studied in these settings. OBJECTIVES: To report the diagnostic yield of brain MRI and identify clinical associations of abnormal MRI findings among PWE in a neurocysticercosis-endemic, resource-limited setting and to identify the proportion and putative structural brain causes of drug-resistant epilepsy...
May 2017: Annals of Global Health
https://www.readbyqxmd.com/read/29204024/behavioral-problems-and-intelligence-quotient-changes-in-pediatric-epilepsy-a-case-control-study
#15
Shyama Choudhary, N Niranjan, Satyendra Khichar, Pramod K Berwal, Abhijeet Singh Barath
Background: Epilepsy is the most common chronic neurological disease and has neurological impairment as an important comorbidity. Objective: To find behavioral problems and intelligence quotient (IQ) changes associated with epilepsy and to know the association of variables such as frequency, type of seizures, and duration of disease with cognitive impairment. Materials and Methods: A descriptive cross sectional study, consisting of 50 cases (patients of epilepsy) and 50 controls (other patients of same socioeconomic status) was conducted at S...
October 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/29198174/intracranial-complications-of-midline-nasal-dermoid-cysts
#16
Dries Opsomer, Toon Allaeys, Ann-Sofie Alderweireldt, Edward Baert, Nathalie Roche
BACKGROUND: Nasal dermoid cysts are common tumors in children. Due to anomalies in embryologic development of the nasal complex, sometimes an intracranial extension exists. When these cysts become infected they can lead to meningitis, brain abscess and death. METHODS: We report the case of a 1.5-year-old girl admitted to the paediatric intensive care unit after infection of a nasal dermoid cyst. RESULTS: The infant had a spiking fever and epileptic seizures...
December 4, 2017: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/29184354/carbamazepine-induced-seizure-in-a-nonepileptic-child
#17
Rajesh Benny, Vyankatesh Bolegave, Sameer Sadavarte, Vinayak Khatav
No abstract text is available yet for this article.
October 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29179103/factors-associated-with-behavioral-problems-and-cognitive-impairment-in-children-with-epilepsy-of-kinshasa-democratic-republic-of-the-congo
#18
Thierry Matonda-Ma-Nzuzi, Samuel Mampunza Ma Miezi, Magloire Nkosi Mpembi, Diane Muanza Mvumbi, Michel Ntentani Aloni, Fanny Malendakana, Davin Mpaka Mbeya, Gilbert Mananga Lelo, Dominique Charlier-Mikolajczak
BACKGROUND: Behavioral problems and cognitive impairment are common in children with epilepsy (CWE). In sub-Saharan Africa, little is known about these comorbidities particularly their relationships with socioeconomic features. The goal of this study was to identify clinical and socioeconomic factors associated with behavioral problems and cognitive impairment in CWE of Kinshasa (Democratic Republic of the Congo). METHODS: This cross-sectional hospital-based study had included 104 CWE aged 6 to 17years...
November 24, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29175563/do-neurologists-around-the-world-agree-when-diagnosing-epilepsy-results-of-an-international-epinet-study
#19
Peter S Bergin, Ettore Beghi, Lynette G Sadleir, Manjari Tripathi, Mark P Richardson, Elisa Bianchi, Wendyl J D'Souza
OBJECTIVE: Previous studies have shown moderate agreement between physicians when diagnosing epilepsy, but have included small numbers. The EpiNet study group was established to undertake multicentre clinical trials in epilepsy. Before commencing trials, we wanted to determine levels of agreement between physicians from different countries and different health systems when diagnosing epilepsy, specific seizure types and etiologies. METHODS: 30 Case scenarios describing six children and 24 adults with paroxysmal events (21 epileptic seizures, nine non-epileptic attacks) were presented to physicians with an interest in epilepsy...
October 26, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29173305/epilepsy-or-a-seizure-disorder-parental-knowledge-and-misconceptions-about-terminology
#20
Margot Nagan, Mauro Caffarelli, Stephanie Donatelli, N Paul Rosman
OBJECTIVE: To assess primary caregiver understanding of the term epilepsy. STUDY DESIGN: A cross-sectional telephone survey evaluated understanding of the term epilepsy among primary caregivers of children diagnosed with epilepsy at an urban referral center during a 24-month period. Three measures of primary caregiver understanding were used: (1) identifying if their child had a seizure disorder, epilepsy, or both; (2) providing an open-ended definition of epilepsy; and (3) selecting from a multiple-choice definition of epilepsy...
December 2017: Journal of Pediatrics
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