The authors report two cases of infant encephalopathies with psychomotor retardation. The cerebrospinal fluid, the electroretinogram, the electromyogram and the motor conduction velocity are normal. The neuromuscular cutaneous conjunctival biopsies are normal. No biochemical abnormalities are found. The electroencephalogram presents continuous high voltage fast rhythms (250-400 microV) with reduced or absent evoked responses. Early infantile neuroaxonal dystrophy and lissencephaly are suggested.
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Neurology
February 2025
Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, People's Republic of China.
Background And Objectives: Mitochondrial disorders are multiorgan disorders resulting in significant morbidity and mortality. We aimed to characterize death-associated factors in an international cohort of deceased individuals with mitochondrial disorders.
Methods: This cross-sectional multicenter observational study used data provided by 26 mitochondrial disease centers from 8 countries from January 2022 to March 2023.
JMIR Public Health Surveill
January 2025
School of Public Health, National Defense Medical Center, Taipei City, Taiwan.
Background: Japanese encephalitis (JE) is a zoonotic parasitic disease caused by the Japanese encephalitis virus (JEV), and may cause fever, nausea, headache, or meningitis. It is currently unclear whether the epidemiological characteristics of the JEV have been affected by the extreme climatic conditions that have been observed in recent years.
Objective: This study aimed to examine the epidemiological characteristics, trends, and potential risk factors of JE in Taiwan from 2008 to 2020.
J Cardiothorac Surg
January 2025
Department of Paediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth, Maharashtra, Pune, 411018, India.
Background: Proton pump inhibitors (PPIs) are commonly used for managing gastroesophageal disorders but concerns about their potential association with increased stroke risk have emerged, especially among patients with pre-existing cardiovascular conditions such as acute coronary syndrome (ACS). This systematic review and meta-analysis aim to assess the risk of stroke associated with PPI use, stratified by the presence or absence of pre-existing CVD.
Methods: This review was conducted following the PRISMA guidelines and included studies up to March 2024 from PubMed, Embase, and Web of Science.
Riga-Fede disease (RFD) is a rare, benign condition marked by traumatic ulceration on the tongue's ventral side in infants. It arises from friction between the tongue and lower incisors during sucking, potentially worsening into a keratinized lesion if the cause is not addressed. This report details the case of a 1-year-6-month-old male with hydrocephalus, cleft palate, corpus callosum dysgenesis, neuropsychomotor developmental delay, and tracheostomy and gastrostomy needs.
View Article and Find Full Text PDFJ Child Neurol
February 2025
Department of Neurosurgery, University Hospital Ostrava, Ostrava, Czech Republic.
Introduction: The indication for endoscopic third ventriculostomy is often contested in children younger than 1 year. This study aims to establish the benefits of this modality in children with idiopathic congenital aqueductal stenosis.
Methods: Retrospective analysis was performed on patients <1 year old with idiopathic congenital aqueductal stenosis undergoing endoscopic third ventriculostomy between 2004 and 2020.
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