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Relationship between prenatal ultrasound signs and genetic abnormalities for fetal malformations of cortical development.
Ultraschall Med
December 2024
Ob-Gyn ultrasound unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
To explore the relationship between ultrasound signs of suspected fetal malformation of cortical development (MCD) and genetic MCD.The retrospective study involved fetuses with one of the following 10 neurosonography (NSG) signs: (A) abnormal development of the Sylvian fissure; (B) delayed achievement of cortical milestones; (C) premature or aberrant appearance of sulcation; (D) irregular border of the ventricular wall or irregular shape of the ventricle; (E) abnormal shape or orientation of the sulci; (F) hemispheric asymmetry; (G) non-continuous cerebral cortex; (H) intraparenchymal echogenic nodules; (I) persistent ganglionic eminence (GE) or GE cavitation; (J) abnormal cortical lamination.95 fetuses were included in the study.
View Article and Find Full Text PDFNormal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report.
BMC Pediatr
November 2024
Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Background: Zellweger spectrum disorders (ZSDs) are a group of peroxisome biogenesis disorders (PBDs) with different variants in the PEX genes. The main biochemical marker for screening peroxisomal disorders is very long-chain fatty acids (VLCFAs). The study reveals a rare case of PBD in the Zellweger spectrum in which she had normal plasma VLCFA levels.
View Article and Find Full Text PDFHippocampal resection during hemispherotomy: is it needed?
Childs Nerv Syst
December 2024
Department of Pediatric Neurosurgery, Dana Children's Hospital, Tel Aviv Medical Center, 6 Weizman Street, 64239, Tel Aviv, Israel.
Purpose: Hemispherotomy is an effective surgery for intractable pediatric hemispheric epilepsy. Over the years, the surgical goal has shifted from a complete hemispheric resection (anatomical hemispherectomy) to a disconnective hemispherotomy (DH). Multiple techniques for DH have been described, and often, anterior temporal lobectomy (ATL, with hippocampal resection) is performed.
View Article and Find Full Text PDFGlutaric Aciduria Presenting With an Acute Encephalitic Crisis: A Case Report.
Cureus
July 2024
Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Article Synopsis
- - Glutaric aciduria type 1 (GA1) is a genetic disorder caused by a deficiency in the enzyme glutaryl-CoA dehydrogenase (GCDH), leading to the buildup of harmful organic acids that impair brain function and can result in severe neurological symptoms.
- - A case of a six-month-old boy with GA1 showed that he experienced seizures after a fever, underwent various treatments including non-invasive ventilation, and was diagnosed via brain MRI and specialized tests, but unfortunately did not survive despite timely medical intervention.
- - Effective management of GA1 focuses on dietary changes, such as a low-lysine diet and the use of carnitine, highlighting the critical importance of early detection through newborn screening to
Coexistence of Trigonocephaly and Sylvian Arachnoid Cysts: A Coincidence?
Pediatr Neurosurg
July 2024
Università Cattolica del Sacro Cuore, Milan, Italy.
Introduction: The association between trigonocephaly and Sylvian fissure arachnoid cysts (ACs) has been occasionally reported in the literature. However, the real incidence of this association and its clinical relevance remain unknown.
Methods: The authors collected and retrospectively reviewed all clinical charts and CT scans of patients surgically treated for trigonocephaly at the Pediatric Neurosurgical Department of Fondazione Policlinico Universitario "Agostino Gemelli" IRCCS from January 2014 to June 2023.
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