251 results match your criteria Pediatrics Reye Syndrome

NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.

Metab Brain Dis 2021 10 24;36(7):2169-2172. Epub 2021 Aug 24.

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, al. Dzieci Polskich 20, 04-730, Warsaw, Poland.

Biallelic pathogenic variants in the neuroblastoma amplified sequence (NBAS) gene were firstly (2015) identified as a cause of fever-triggered recurrent acute liver failure (RALF). Since then, some patients with NBAS deficiency presenting with neurologic features, including a motor delay, intellectual disability, muscular hypotonia and a mild brain atrophy, have been reported. Here, we describe a case of pediatric patient diagnosed with NBAS deficiency due to a homozygous c. Read More

View Article and Full-Text PDF
October 2021

Prevalence, Risk Factors, and Outcomes of Influenza-Associated Neurologic Complications in Children.

J Pediatr 2021 12 1;239:32-38.e5. Epub 2021 Jul 1.

Monroe Carell Jr Children's Hospital at Vanderbilt, Nashville, TN; Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN.

Objective: To determine the frequency of neurologic complications associated with influenza in hospitalized children.

Stud Design: We performed a cross-sectional study of children (2 months through 17 years of age) with influenza discharged from 49 children's hospitals in the Pediatric Health Information System during the influenza seasons of 2015-2020. Neurologic complications were defined as encephalopathy, encephalitis, aseptic meningitis, febrile seizure, nonfebrile seizure, brain abscess and bacterial meningitis, Reye syndrome, and cerebral infarction. Read More

View Article and Full-Text PDF
December 2021

Atypical Reye syndrome: three cases of a problem that pediatricians should consider and remember.

Acta Biomed 2021 04 30;92(S1):e2021110. Epub 2021 Apr 30.

Institute of Pediatrics, Fondazione Policlinico A. Gemelli IRCCS - Università Cattolica Sacro Cuore, Rome, Italy .

Introduction: Reye syndrome is a rare acquired metabolic disorder appearing almost always during childhood. Its aetiopathogenesis, although controversial, is partially understood. The classical disease is typically anticipated by a viral infection with 3-5 days of well-being before the onset of symptoms, while the biochemical explanation of the clinical picture is a mitochondrial metabolism disorder, which leads to a metabolic failure of different tissues, especially the liver. Read More

View Article and Full-Text PDF

Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders.

Front Genet 2020 15;11:598760. Epub 2021 Jan 15.

Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, United States.

Inborn errors of mitochondrial fatty acid oxidation (FAO) comprise the most common group of disorders identified through expanded newborn screening mandated in all 50 states in the United States, affecting 1:10,000 newborns. While some of the morbidity in FAO disorders (FAODs) can be reduced if identified through screening, a significant gap remains between the ability to diagnose these disorders and the ability to treat them. At least 25 enzymes and specific transport proteins are responsible for carrying out the steps of mitochondrial fatty acid metabolism, with at least 22 associated genetic disorders. Read More

View Article and Full-Text PDF
January 2021

50 Years Ago in TheJournalofPediatrics: Diagnosis of Coagulation Defects in Reye Syndrome.

J Pediatr 2021 02;229:117

Department of Pediatrics, Critical Care Medicine, Yale School of Medicine, New Haven, Connecticut.

View Article and Full-Text PDF
February 2021

Kawasaki disease and influenza-new lessons from old associations.

Clin Rheumatol 2021 Jul 2;40(7):2991-2999. Epub 2021 Jan 2.

Allergy Immunology Unit, Advanced Pediatrics Centre (APC), Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India.

Kawasaki disease (KD), an enigmatic medium vessel vasculitis, presents as an acute febrile illness predominantly affecting young children. KD appears to be a hyper-inflammatory response elicited by environmental or infectious agents (including respiratory viruses) in genetically predisposed individuals. Numerous reports from the current era of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic have described the occurrence of KD/KD-like illness in close temporal proximity to SARS-CoV-2 infection or exposure. Read More

View Article and Full-Text PDF

The Impact of Moderate-Dose Acetylsalicylic Acid in the Reduction of Inflammatory Cytokine and Prevention of Complication in Acute Phase of Kawasaki Disease: The Benefit of Moderate-Dose Acetylsalicylic Acid.

Children (Basel) 2020 Oct 16;7(10). Epub 2020 Oct 16.

Division of Pediatric Cardiology, Department of Pediatrics, School of Medicine, Kyungpook National University, Kyungpook National University Children's Hospital, Daegu 41404, Korea.

Background: Acetylsalicylic acid (ASA) is part of the recommended treatment of Kawasaki disease (KD). Controversies remain regarding the optimal dose of ASA. We aimed to evaluate the impact of different doses of ASA on inflammation control while minimizing adverse effects in the acute phase treatment of KD. Read More

View Article and Full-Text PDF
October 2020

Recurrent Liver Failure in an 11-Year-Old Boy.

Clin Chem 2020 08;66(8):1115-1117

Laboratoire de Biochimie, Hôpital Pasteur, CHU de Nice, Nice, France.

View Article and Full-Text PDF

50 Years Ago in The Journal of Pediatrics: Aspirin and Reye Syndrome.

J Pediatr 2020 07;222:192

Rainbow Babies and Children's Hospital, Cleveland, Ohio.

View Article and Full-Text PDF

Adjuvant herbal therapy for targeting susceptibility genes to Kawasaki disease: An overview of epidemiology, pathogenesis, diagnosis and pharmacological treatment of Kawasaki disease.

Phytomedicine 2020 Apr 18;70:153208. Epub 2020 Mar 18.

State Key Laboratory of Quality Research in Chinese Medicine, Macau University of Science and Technology, Macau, China.

Background: Kawasaki disease (KD) is a self-limiting acute systemic vasculitis occur mainly in infants and young children under 5 years old. Although the use of acetylsalicylic acid (AAS) in combination with intravenous immunoglobulin (IVIG) remains the standard therapy to KD, the etiology, genetic susceptibility genes and pathogenic factors of KD are still un-elucidated.

Purpose: Current obstacles in the treatment of KD include the lack of standard clinical and genetic markers for early diagnosis, possible severe side effect of AAS (Reye's syndrome), and the refractory KD cases with resistance to IVIG therapy, therefore, this review has focused on introducing the current advances in the identification of genetic susceptibility genes, environmental factors, diagnostic markers and adjuvant pharmacological intervention for KD. Read More

View Article and Full-Text PDF

Detailed clinical course of fatal acute encephalopathy in children.

Brain Dev 2019 Sep 20;41(8):691-698. Epub 2019 Jul 20.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Objective: Although the mortality among previously healthy children with acute encephalopathy (AE) is approximately 5%, their detailed clinical course has not been clarified. The objective of the present study was to describe the detailed clinical course, in minutes, of fatal AE.

Methods: We retrospectively reviewed the medical records of five patients (from 6 months to 14 years of age) who previously had no neurological disorders and were diagnosed with brain death due to AE between 2002 and 2018 at Kobe Children's Hospital. Read More

View Article and Full-Text PDF
September 2019

First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder.

Brain Sci 2019 Jun 13;9(6). Epub 2019 Jun 13.

Department of Nursing, University of Valencia, 46010 Valencia, Spain.

Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed as a metabolic decompensation, presenting as hypoketotic hypoglycemia, Reye syndrome, or sudden infant death; in childhood, PCD presents with skeletal or cardiac myopathy. However, the clinical presentation of PCD characterized by autism spectrum disorder (ASD) with intellectual disability (ID) has seldom been reported in the literature. Read More

View Article and Full-Text PDF

Management of acute mitochondriopathy and encephalopathy syndrome in pediatric intensive care unite: a new clinical entity.

Acta Neurol Belg 2020 Oct 18;120(5):1115-1121. Epub 2019 Mar 18.

Department of Pediatrics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.

Acute mitochondriopathy and encephalopathy syndrome (AMES) is described differently by different authors in the literature. As a new clinical entity, we aimed to present the clinical signs and symptoms, diagnosis and treatment algorithm of our patients with AMES. 56 patients aged between 2 months and 18 years who were followed up in pediatric intensive care units of Konya Training and Research Hospital and Selcuk University Medical Faculty Hospital, between January 2010 and June 2017 were included. Read More

View Article and Full-Text PDF
October 2020

A Case of Reye Syndrome Caused by Influenza A Virus.

Ochsner J 2018 ;18(4):425-427

The University of Queensland School of Medicine, Ochsner Clinical School, New Orleans, LA.

Background: Reye syndrome is a rare and potentially life-threatening disease characterized by liver failure and hepatic encephalopathy. Multiple possible etiologies have been suggested, but only aspirin (acetylsalicylic acid) has been statistically proven to be a causative factor. We describe a case of Reye syndrome secondary to influenza A virus. Read More

View Article and Full-Text PDF
January 2018

Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.

Ital J Pediatr 2017 Jan 19;43(1):12. Epub 2017 Jan 19.

Department of Radiology, Hospital Clínico Universitario, Avda. Blasco Ibáñez 17, 46010, Valencia, Spain.

Background: 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error of metabolism characterized by recurrent metabolic crises caused by fasting, intercurrent illness and excessive physical exercise. Non ketotic hypoglycemia is normally the cause of primary symptoms but without an immediate treatment the illness can evolve into a worsening metabolic state resembling the Reye's syndrome that may cause the patient's death. We report a case with some clinical and therapeutic features not previously described. Read More

View Article and Full-Text PDF
January 2017

Aspirin increases mitochondrial fatty acid oxidation.

Biochem Biophys Res Commun 2017 Jan 14;482(2):346-351. Epub 2016 Nov 14.

Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, United States. Electronic address:

The metabolic effects of salicylates are poorly understood. This study investigated the effects of aspirin on fatty acid oxidation. Aspirin increased mitochondrial long-chain fatty acid oxidation, but inhibited peroxisomal fatty acid oxidation, in two different cell lines. Read More

View Article and Full-Text PDF
January 2017

"Symptomatic" infection-associated acute encephalopathy in children with underlying neurological disorders.

Brain Dev 2017 Mar 22;39(3):243-247. Epub 2016 Oct 22.

Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan. Electronic address:

Background: Development of infection-associated acute encephalopathy (AE) is precipitated by several factors, including viral agents, age, and genetic polymorphisms. In addition, children with prior underlying neurological disorders can also present with AE.

Method: We reviewed 55 children with AE who were referred to hospitals participating in the Status Epilepticus Study Group from 1988 to 2013. Read More

View Article and Full-Text PDF

Acetylsalicylic acid as a potential pediatric health hazard: legislative aspects concerning accidental intoxications in the European Union.

J Occup Med Toxicol 2016 13;11:32. Epub 2016 Jul 13.

Institute of Occupational Medicine, Social Medicine and Environmental Medicine, Departments of Female Health and Preventive Medicine, Goethe University, Frankfurt am Main, Theodor-Stern-Kai 7, Frankfurt, 60590 Germany.

Acetylsalicylic acid is a frequently used medication worldwide. It is not used in pediatrics due its association with Reye syndrome. However, in case of pediatric intoxication, children are more fragile to salicylate poisoning because of their reduced ability of buffer the acid stress. Read More

View Article and Full-Text PDF

An 8-year-old girl with abdominal pain and mental status changes.

Pediatr Emerg Care 2015 Jun;31(6):459-62

Section of Metabolic Disease The Children's Hospital of Philadelphia and Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia, PA.

View Article and Full-Text PDF

Impact of fatty acid oxidation disorders in child neurology: from Reye syndrome to Pandora's box.

Ingrid Tein

Dev Med Child Neurol 2015 Apr;57(4):304-6

Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario, Canada.

View Article and Full-Text PDF

Update on pediatric neurocritical care.

Robert C Tasker

Paediatr Anaesth 2014 Jul 2;24(7):717-23. Epub 2014 Apr 2.

Departments of Neurology and Anesthesiology, Perioperative and Pain Medicine, Division of Critical Care Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.

Paralytic poliomyelitis, Reye syndrome, Hemophilus Influenzae type B epiglottitis, bacterial meningitis, and meningococcal septic shock are catastrophic illnesses that in the last 60 years have shaped the development of pediatric intensive care. Neurocritical care has been at the forefront of our thinking and, more latterly, as a specialty we have had the technology and means to develop this focus, educate the next generation and show that outcomes can be improved-first in adult critical care and now the task is to translate these benefits to critically ill children. In our future we will need to advance interventions in patient care with clinical trials. Read More

View Article and Full-Text PDF

Pediatric parechovirus infections.

J Clin Virol 2014 Jun 13;60(2):84-9. Epub 2014 Mar 13.

Department of Medical Microbiology, Division of Clinical Virology, The University of Groningen, University Medical Center Groningen, The Netherlands.

Human parechoviruses (HPeVs) are members of the large and growing family of Picornaviridae. Although 16 types have been described on the basis of the phylogenetic analyses of the VP1 encoding region, the majority of published reports relate to the HPeV types 1-8. In pediatrics, HPeV1, HPeV2 and HPeV4-8 mainly cause mild gastrointestinal or respiratory illness; only occasionally more serious diseases have been reported, including myocarditis, encephalitis, pneumonia, meningitis, flaccid paralysis, Reye syndrome and fatal neonatal infection. Read More

View Article and Full-Text PDF

Bismuth salicylate for diarrhea in children.

Ran D Goldman

Can Fam Physician 2013 Aug;59(8):843-4

BC Children's Hospital, Department of Pediatrics, Room K4-226, Ambulatory Care Bldg, 4480 Oak St, Vancouver, BC V6H 3V4, Canada.

Question: Recently, I had a visit from a 5-year-old patient who had been given bismuth subsalicylate for a diarrheal illness by a local family physician during a trip to South America. Is this a practice we should encourage?

Answer: Research from developing countries has found the use of bismuth subsalicylate to be effective in shortening the duration of diarrheal illness. Despite these findings, its limited effectiveness and concerns about it potentially causing Reye syndrome, compliance, and cost are the key reasons it is not routinely recommended for children. Read More

View Article and Full-Text PDF

Cerebellar mutism caused by primary varicella infection in an immunocompetent child.

J Child Neurol 2014 Jun 26;29(6):830-2. Epub 2013 Feb 26.

Division of Child Neurology, Baskent University Faculty of Medicine, Adana, Turkey.

Varicella (chickenpox) is a common childhood infection caused by the varicella-zoster virus, which is often self-limiting and usually benign. Although uncommon, neurologic complications of varicella have been documented that include postinfectious cerebellar ataxia, meningoencephalitis, Reye syndrome, myelitis, optic neuritis, stroke, Guillain-Barré syndrome, seventh cranial nerve palsy, and Ramsay-Hunt syndrome. In this case study, the authors describe a 7-year-old girl who presented with varicella skin rash with unsteady gait and anarthria on day 2, and her condition was attributed to cerebellar mutism. Read More

View Article and Full-Text PDF

Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype.

Ital J Pediatr 2012 Oct 24;38:59. Epub 2012 Oct 24.

Department of Pediatrics, University of Torino, Regina Margherita Children's Hospital, Torino, Italy.

Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death. MCAD deficiency usually presents around three to six months of life, following catabolic stress as intercurrent infections or prolonged fasting, whilst neonatal-onset of the disease is quite rare. Read More

View Article and Full-Text PDF
October 2012

Antiplatelet therapy in children: why so different from adults'?

Curr Pharm Des 2012 ;18(21):3019-33

Department of Cardiovascular and Neurological Sciences, University of Cagliari, Italy.

Antiplatelet agents are administered in the treatment of a large number of adult diseases: coronary heart disease, ischemic stroke, peripheral arterial disease, arrhythmias with their thromboembolic complications, primary and secondary prevention. In childhood however, the situation is substantially different. The lack of large interventional trials on the use of antiplatelet drugs in children, has led to greater uncertainty, and a less extensive use of these drugs, limited to fewer indications. Read More

View Article and Full-Text PDF
December 2012

Transaminase in rotavirus gastroenteritis.

Pediatr Int 2012 Feb;54(1):86-8

Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.

Background: Children infected with rotavirus often show increased levels of transaminase, and symptoms are characterized by white stool, similar to biliary atresia. Rotavirus infections are also sporadically accompanied with convulsions, encephalopathy and Reye syndrome. The aim of the present study was therefore to investigate transaminase and interleukin (IL)-6 levels in rotavirus infection, in order to better understand their clinical significance. Read More

View Article and Full-Text PDF
February 2012

[Reye syndrome and Reye-like syndrome].

Akihiko Kimura

Nihon Rinsho 2011 Mar;69(3):455-9

Department of Pediatrics Child Health, Kurume University School of Medicine.

Reye syndrome (RS) is an acute metabolic encephalopathy and hepatopathy affecting children and adolescents. Outbreaks of RS were common in United States until the early 1980s. However, after the abolition of salicylate (aspirin) therapy for infectious diseases such as influenza or varicella in patients under 18 years of age the incidence decreased. Read More

View Article and Full-Text PDF

Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.

Tohoku J Exp Med 2010 Jul;221(3):191-5

Department of Pediatrics, Gifu University Graduate School of Medicine.

Carnitine palmitoyltransferase 2 (CPT2) deficiency is one of the most common mitochondrial beta-oxidation defects. A female patient with an infantile form of CPT2 deficiency first presented as having a Reye-like syndrome with hypoglycemic convulsions. Oral L-carnitine supplementation was administered since serum free carnitine level was very low (less than 10 micromol/L), indicating secondary carnitine deficiency. Read More

View Article and Full-Text PDF

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Mol Genet Metab 2010 Mar 1;99(3):263-8. Epub 2009 Nov 1.

Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA.

Introduction: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common inborn errors of metabolism. Affected patients have impaired ability to break down medium chain fatty acids during fasting, and typically present in the early years of life with hypoketotic hypoglycemia, Reye syndrome-like symptoms, brain damage or death. The development of newborn screening (NBS) for MCAD deficiency has greatly improved outcome, but some patients still appear at risk for severe complications. Read More

View Article and Full-Text PDF