TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation.

Abstract:

:Pontocerebellar hypoplasia (PCH) type 2 is a very rare autosomal recessive neurodegenerative disorder with prenatal onset that disrupts brain development. We present three patients (two siblings and one unrelated child) with PCH 2 linked to the most common mutation c.919G > T (p.Ala307Ser) in TSEN54 gene. The disease started soon after birth with feeding difficulties, extrapyramidal symptoms, psychomotor retardation, progressive microcephaly. Two of the patients were diagnosed with dyskinetic cerebral palsy (CP) at first. Despite the neurodegenerative character of PCH 2, the absence of regression and even some developmental progress in few patients, might erroneously lead to the incorrect diagnosis of dyskinetic CP. Megacisterna magna on brain ultrasound makes the diagnosis of PCH 2 highly probable and should prompt further imaging with MRI. MRI findings of PCH are pivotal for the diagnosis. Genetic testing for the most common mutation in TSEN54 gene should also be performed. Correct diagnosis of PCH 2 is essential not only for the prognosis of the patient, but also for prenatal diagnosis in future pregnancies. Knowledge of the clinical picture of PCH 2 will lead to correct and timely diagnosis. Advanced neuroimaging procedures and molecular genetic techniques provide valuable tools for prompt diagnosis of rare, but clinically important, neurogenetic imitators of CP.

journal_name

Front Pediatr

journal_title

Frontiers in pediatrics

authors

Pacheva IH,Todorov T,Ivanov I,Tartova D,Gaberova K,Todorova A,Dimitrova D

doi

10.3389/fped.2018.00001

subject

Has Abstract

pub_date

2018-01-23 00:00:00

pages

1

issn

2296-2360

journal_volume

6

pub_type

  • Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea.

    abstract::The term osteopetrosis describes a group of rare hereditary diseases of the skeleton, characterized by an increase in bone density, caused by a defect in the development or function of osteoclasts. It comprises a clinically and genetically heterogeneous conditions ranging from infantile onset life-threatening forms to...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2018.00213

    authors: di Palmo E,Gallucci M,Tronconi E,Bergamaschi R,Cazzato S,La Scola C,Ricci G,Pession A

    更新日期:2018-07-31 00:00:00

  • The Incidence and Short-term Outcomes of Acute Respiratory Illness with Cough in Children from a Socioeconomically Disadvantaged Urban Community in Australia: A Community-Based Prospective Cohort Study.

    abstract:Background:Acute respiratory illnesses with cough (ARIwC) are predominant causes of morbidity in Australian Indigenous children; however, data on disease burden in urban communities are scarce. This study aimed to determine the incidence of ARIwC, the predictors of recurrent (≥4 episodes) ARIwC, and development of chro...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2017.00228

    authors: Hall KK,Chang AB,Anderson J,Arnold D,Goyal V,Dunbar M,Otim M,O'Grady KF

    更新日期:2017-10-31 00:00:00

  • A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement.

    abstract::Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with hypotonia. We here describe a 2 years old child with HCS associated wit...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2019.00127

    authors: Taroni F,Capone V,Berrettini A,De Marco EA,Manzoni GA,Montini G

    更新日期:2019-04-09 00:00:00

  • Skeletal Effects of Early-Life Exposure to Soy Isoflavones-A Review of Evidence From Rodent Models.

    abstract::Isoflavones are dietary phytoestrogens commonly found in soy-based products. The widespread presence of isoflavones in soy infant formula and breast milk may have long-lasting effects on the development of sex hormone-sensitive organs like the skeleton. Animal early-life programming models are suitable for testing the...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2020.00563

    authors: Chin KY,Pang KL

    更新日期:2020-09-11 00:00:00

  • DNA Methylation Profile in Human Cord Blood Mononuclear Leukocytes From Term Neonates: Effects of Histological Chorioamnionitis.

    abstract::Background: Histological chorioamnionitis (HCA) is an infection/inflammation of fetal membranes and complicates 5.2-28.5% of all live births. Exposure to HCA can have long-term consequences including abnormal neurodevelopment and an increased risk for allergic disorders and asthma later in childhood. HCA may incite ep...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.00437

    authors: Fong G,Gayen Nee' Betal S,Murthy S,Favara M,Chan JSY,Addya S,Shaffer TH,Greenspan J,Bhandari V,Li D,Rahman I,Aghai ZH

    更新日期:2020-08-04 00:00:00

  • Oxygen, gastrin-releasing Peptide, and pediatric lung disease: life in the balance.

    abstract::Excessive oxygen (O2) can cause tissue injury, scarring, aging, and even death. Our laboratory is studying O2-sensing pulmonary neuroendocrine cells (PNECs) and the PNEC-derived product gastrin-releasing peptide (GRP). Reactive oxygen species (ROS) generated from exposure to hyperoxia, ozone, or ionizing radiation (RT...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2014.00072

    authors: Sunday ME

    更新日期:2014-07-18 00:00:00

  • Hypertension in the Pediatric Kidney Transplant Recipient.

    abstract::Hypertension after kidney transplant is a frequent occurrence in pediatric patients. It is a risk factor for graft loss and contributes to the significant burden of cardiovascular disease (CVD) in this population. The etiology of posttransplant hypertension is multifactorial including donor factors, recipient factors,...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2017.00086

    authors: Charnaya O,Moudgil A

    更新日期:2017-05-01 00:00:00

  • Chronic Thromboembolic Pulmonary Hypertension in a Child With Sickle Cell Disease.

    abstract::Chronic thromboembolic pulmonary hypertension is a potentially curable form of pre-capillary pulmonary hypertension (PH) resulting from incomplete resolution of pulmonary thromboemboli. We describe an 11-year-old boy with homozygous sickle cell disease with an indwelling catheter found to have severe PH on routine scr...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2020.00363

    authors: Spencer R,Valencia Villeda G,Takeda K,Rosenzweig EB

    更新日期:2020-07-24 00:00:00

  • Gut Microbiota of Young Children Living in Four Brazilian Cities.

    abstract::Recent studies have demonstrated that gut microbiota development is influenced by human biogeographic factors such as race, ethnicity, diet, lifestyle or culture-specific variations, and other environmental influences. However, biogeographic variation in gut microbiota assembly remains largely unexplored in Latin Amer...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.573815

    authors: Chew C,Barros KV,Weffort VRS,Maranhão HS,Laranjeira M,Knol J,Roeselers G,de Morais MB

    更新日期:2020-12-07 00:00:00

  • Case Series of COVID-19 Asymptomatic Newborns With Possible Intrapartum Transmission of SARS-CoV-2.

    abstract::Background: Despite the pandemic, data are limited regarding COVID-19 infection in pregnant women and newborns. This report aimed to bring new information about presentation that could modify precautionary measures for infants born of mothers with a remote history of COVID-19. Methods: We report two infants with possi...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2020.568979

    authors: Hascoët JM,Jellimann JM,Hartard C,Wittwer A,Jeulin H,Franck P,Morel O

    更新日期:2020-09-29 00:00:00

  • How Salty Are Your Fluids? Pediatric Maintenance IV Fluid Prescribing Practices Among Hospitalists.

    abstract::Objective: The primary goal of this study was to assess current maintenance intravenous fluid (mIVF) prescribing practices of pediatric hospitalists after the release of the American Academy of Pediatrics Clinical Practice Guideline (AAP CPG), specifically assessing the rates of various isotonic vs. hypotonic solution...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2019.00549

    authors: Hall AM,Ayus JC,Moritz ML

    更新日期:2020-01-15 00:00:00

  • Transcatheter Closing Atrial Septal Defect in a Child With Hereditary Spherocytosis.

    abstract::A 3-year-old girl was admitted to our hospital for the correction of atrial septal defect (ASD). Open heart operation with cardiopulmonary bypass is dangerous because the patient also had hereditary spherocytosis, which put her at risk for hemolytic anemia. Therefore, percutaneous transcatheter closure for ASD was cho...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2019.00506

    authors: Ji Z,Liu N,Du Z,Luo G,Bing Z,Xing Q,Pan S

    更新日期:2019-12-17 00:00:00

  • Short- and Long-Term Renal Outcome of Hemolytic-Uremic Syndrome in Childhood.

    abstract::Introduction: Hemolytic-uremic syndrome (HUS) is a common cause for intrarenal acute kidney injury in childhood. More than 90% of HUS cases are associated with an infection by Shigatoxin-producing Escherichia coli (STEC) whereas the reminder comprises a heterogeneous group (here classified as Non-STEC-HUS). Renal impa...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2018.00220

    authors: Vaterodt L,Holle J,Hüseman D,Müller D,Thumfart J

    更新日期:2018-08-07 00:00:00

  • Waived Consent in Perinatal/Neonatal Research-When Is It Appropriate?

    abstract::Informed consent is a process ensuring that subjects enrolled in research are appropriately informed of the risks and benefits. While this process is well-defined when it is possible and practical to obtain consent prior to the research intervention, it can be less clear in cases of deferred or waived consent. Definin...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2019.00493

    authors: Rich WD,Katheria AC

    更新日期:2019-11-26 00:00:00

  • Anticoagulation Management and Monitoring during Pediatric Extracorporeal Life Support: A Review of Current Issues.

    abstract::Anticoagulation is an imperfect science and is even more complicated in neonates and young children. The addition of the extracorporeal life support (ECLS) foreign circuit adds an additional layer of complexity. Anticoagulation goals during ECLS are to maintain a clot-free circuit and a hemostatically balanced patient...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2016.00067

    authors: Ryerson LM,Lequier LL

    更新日期:2016-06-22 00:00:00

  • Association Between Lactates, Blood Glucose, and Systemic Oxygen Delivery in Children After Cardiopulmonary Bypass.

    abstract::Objective: Lactate is often used as a surrogate marker of inappropriate oxygen delivery. It has been shown that hyperlactatemia is associated with worse clinical outcome in children after cardiac surgery. The purpose of this study is to evaluate the association of hyperlactatemia, low systemic oxygen delivery, and hyp...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.00332

    authors: Klee P,Rimensberger PC,Karam O

    更新日期:2020-06-23 00:00:00

  • Shape-Up and Eat Right Families Pilot Program: Feasibility of a Weight Management Shared Medical Appointment Model in African-Americans With Obesity at an Urban Academic Medical Center.

    abstract:Objectives:Disparities in obesity care exist among African-American children and adults. We sought to test the feasibility of a pilot program, a 1-year family-based intervention for African-American families with obesity [shape up and eat right (SUPER)], adopting the shared medical appointment model (SMA) at an urban s...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2018.00101

    authors: Srivastava G,Palmer KD,Ireland KA,McCarthy AC,Donovan KE,Manders AJ,McDougal J,Lenders CM,Apovian CM

    更新日期:2018-04-12 00:00:00

  • Review: Quality of Life in Children with Non-cystic Fibrosis Bronchiectasis.

    abstract::Non-cystic fibrosis bronchiectasis (NCFB) has gained renewed interest, due to its increasing health-care burden. Annual mortality statistics in England and Wales showed that under 1,000 people die from bronchiectasis each year, and this number is increasing by 3% yearly. Unfortunately, there is a severe lack of well-p...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2017.00084

    authors: Nathan AM,de Bruyne JA,Eg KP,Thavagnanam S

    更新日期:2017-04-24 00:00:00

  • Oxidative Stress and Bronchial Asthma in Children-Causes or Consequences?

    abstract::Bronchial asthma is one of the most common chronic inflammatory diseases of the airways. In the pathogenesis of this disease, the interplay among the genes, intrinsic, and extrinsic factors are crucial. Various combinations of the involved factors determine and modify the final clinical phenotype/endotype of asthma. O...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2017.00162

    authors: Jesenak M,Zelieskova M,Babusikova E

    更新日期:2017-07-24 00:00:00

  • Reduced Handgrip Strength in Congenital Heart Disease With Regard to the Shunt Procedure in Infancy.

    abstract::Objective: In many patients with congenital heart disease (CHD) arterial blood flow to the arms is inhibited due to shunt surgery in infancy. This study investigates the handgrip strength of patients with CHD in regard to previous shunt procedures. Patients and Methods: Handgrip was evaluated in 424 patients with vari...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2018.00247

    authors: Müller J,Röttgers L,Neidenbach RC,Oberhoffer R,Ewert P,Hager A

    更新日期:2018-09-06 00:00:00

  • Counseling for Prenatal Congenital Heart Disease-Recommendations Based on Empirical Assessment of Counseling Success.

    abstract::Objectives: Empirical assessment of parental needs and affecting factors for counseling success after prenatal diagnosis of congenital heart disease (CHD). Methods:Counseling success after fetal diagnosis of CHD was assessed by a validated standardized questionnaire. The dependent variable "Effective Counseling" was m...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.00026

    authors: Kovacevic A,Simmelbauer A,Starystach S,Elsässer M,Müller A,Bär S,Gorenflo M

    更新日期:2020-02-26 00:00:00

  • Pharmacokinetics and Pharmacodynamics Estimation of Eculizumab in a 2-Year-Old Girl With Atypical Hemolytic Uremic Syndrome: A Case Report With 4-Year Follow-Up.

    abstract::Background: Eculizumab has dramatically changed poor outcomes of complement-mediated atypical hemolytic uremic syndrome (aHUS) as first-line treatment. Discontinuation of eculizumab remains challenging, and doctor's visits every 2 weeks for intravenous injection because of standard dosing protocols is a huge burden. T...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2019.00519

    authors: Saida K,Fukuda T,Mizuno K,Ogura M,Kamei K,Ito S

    更新日期:2019-12-17 00:00:00

  • Giant Gastric Bezoar Complicating Congenital Esophageal Atresia Repaired by Gastric Interposition-A Case Report.

    abstract::We describe a giant gastric phytobezoar in a child with repaired congenital esophageal atresia. At age two, a gastric interposition (pull-up) procedure was performed for severe and recurrent esophageal strictures. For 12 months post-gastric interposition, he experienced frequent respiratory illnesses requiring hospita...

    journal_title:Frontiers in pediatrics

    pub_type:

    doi:10.3389/fped.2017.00098

    authors: Chacko A,Masters BI,Isles A

    更新日期:2017-06-19 00:00:00

  • Investigating Pregnancy and Its Complications Using Circulating Cell-Free RNA in Women's Blood During Gestation.

    abstract::In recent years, there have been major advances in the application of non-invasive techniques to predict pregnancy-related complications, for example by measuring cell-free RNA (cfRNA) in maternal blood. In contrast to cell-free DNA (cfDNA), which is already in clinical use to diagnose fetal aneuploidy, circulating RN...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2020.605219

    authors: Moufarrej MN,Wong RJ,Shaw GM,Stevenson DK,Quake SR

    更新日期:2020-12-14 00:00:00

  • Preterm Birth during Influenza Season Is Associated with Adverse Outcome in Very Low Birth Weight Infants.

    abstract:OBJECTIVE:We investigated the relationship between influenza seasonality and outcome of very low birth weight infants (VLBWI) in a large observational cohort study of the German Neonatal Network. MATERIALS AND METHODS:Within the observational period (July 2009 until December 2014), five influenza seasons occurred (mea...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2016.00130

    authors: Härtel C,Humberg A,Viemann D,Stein A,Orlikowsky T,Rupp J,Kopp MV,Herting E,Göpel W

    更新日期:2016-11-30 00:00:00

  • Pediatric Critical Care Medicine Training in India: Past, Present, and Future.

    abstract::Pediatric critical care services in India have grown with leaps and bounds. There has been a growing need of physicians specially trained in pediatric critical care medicine (PCCM) in India. Physicians returning to India after their formal training in PCCM abroad have partly supported this growing need. Development of...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2018.00034

    authors: Bhalala U,Khilnani P

    更新日期:2018-02-26 00:00:00

  • Management of Multi Organ Dysfunction in Neonatal Encephalopathy.

    abstract::Neonatal Encephalopathy (NE) describes neonates with disturbed neurological function in the first post-natal days of life. NE is an overall term that does not specify the etiology of the encephalopathy although it often involves hypoxia-ischaemia. In NE, although neurological dysfunction is part of the injury and is m...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2020.00239

    authors: O'Dea M,Sweetman D,Bonifacio SL,El-Dib M,Austin T,Molloy EJ

    更新日期:2020-05-15 00:00:00

  • Robotic Management of Urolithiasis in the Pediatric Population.

    abstract::A variety of surgical techniques exist for the management of urolithiasis. Minimally invasive techniques have replaced open surgery in the last few decades. For complex stone management, robotic-assisted laparoscopic surgery (RALS) has emerged as a safe and feasible alternative in adults. The literature for RALS for u...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章,评审

    doi:10.3389/fped.2019.00351

    authors: Ballesteros N,Snow ZA,Moscardi PRM,Ransford GA,Gomez P,Castellan M

    更新日期:2019-08-22 00:00:00

  • Intellectual Functioning in Children with Congenital Heart Defects Treated with Surgery or by Catheter Interventions.

    abstract:BACKGROUND:Studies suggest that children with congenital heart defects (CHD) are at risk for adverse intellectual functioning. However, factors related to lower intellectual functioning in this group are largely unknown. This study describes intellectual functioning in children with CHD in relation to severity of the h...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2016.00113

    authors: Ryberg C,Sunnegårdh J,Thorson M,Broberg M

    更新日期:2016-11-17 00:00:00

  • COVID-19: Technology-Supported Remote Assessment of Pediatric Asthma at Home.

    abstract::The COVID-19 crisis has pressured hospital-based care for children with high-risk asthma as they have become deprived of regular clinical evaluations. However, COVID-19 also provided important lessons about implementing novel directions for care. Personalized eHealth technology, tailored to the individual and the heal...

    journal_title:Frontiers in pediatrics

    pub_type: 杂志文章

    doi:10.3389/fped.2020.00529

    authors: van der Kamp MR,Tabak M,de Rooij SEJA,van Lierop PPE,Thio BJ

    更新日期:2020-09-08 00:00:00